275 hot topic(s) found with the query "Heart disease"
A call for increased inclusivity and global representation in pharmacogenetic testing.
April Kennedy et al. NPJ Genom Med 2024 2 (1) 13
(Posted: Feb 23, 2024 3PM)
From the abstract: "Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and predisposition to adverse reactions. In this study we compared variation in six pharmacogenes detected by whole genome sequencing (WGS) to a targeted commercial panel in a cohort of 308 individuals with family history of pediatric heart disease. In 1% of the cohort, WGS identified rare variants that altered the interpretation of metabolizer status and would thus prevent potential errors in gene-based dosing. "
Heart Disease Risk Higher with Genetic Variant Plus Even Slightly Elevated Cholesterol
Inside Precision Medicine, February 2, 2023
(Posted: Feb 03, 2024 8AM)
From the article: " Even people with moderately elevated low-density lipoprotein cholesterol (LDL-C) have higher risk of heart disease if they also had a variant for familial hypercholesterolemia (FH), according to new research. The long-term study included over 20,000 patients and reinforces the value of genetic testing for this condition."
Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol
Y Zhang et al, JAMA Cardio, January 31, 2023
(Posted: Feb 01, 2024 9AM)
From the abstract: "How do familial hypercholesterolemia (FH) genetic variants modify coronary heart disease (CHD) risk among adults with moderate (LDL-C 130-189 mg/dL) and severe (LDL-C=190 mg/dL) hypercholesterolemia? In this pooled cohort study of 21?426 participants followed up with for a median of 18 years, FH variants were associated with a 2-fold higher CHD risk, even among individuals with moderately elevated LDL-C. The increased CHD risk appeared to be largely explained by the substantially higher lifetime cumulative LDL-C exposure in those with an FH variant vs those without. The findings suggest that genetic testing for FH may help refine risk stratification beyond LDL-C alone; clinical research is needed to assess the value of adding genetic testing to traditional phenotypic FH screening. "
First trial of 'base editing' in humans lowers cholesterol - but raises safety concerns.
Miryam Naddaf et al. Nature 2023 11
(Posted: Nov 14, 2023 9AM)
From the paper: "The first trial in humans of the precise gene-editing technique known as base editing has shown promising results for keeping cholesterol levels in check in patients with familial hypercholesterolemia. The approach injects into people a treatment called VERVE-101, which permanently deactivates a gene in the liver called PCSK9. That gene controls the level of low-density lipoprotein (LDL), or ‘bad’ cholesterol — a key contributor to heart disease. But the findings have also drawn criticism. Two serious adverse events in the trial, including a death, have raised safety concerns. "
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
ES Singer et al, NPJ Genomic Medicine, October 11, 2023
(Posted: Oct 11, 2023 4PM)
From the abstract: "We performed burden testing of rare splice-disrupting variants in people with inherited heart disease and sudden unexplained death compared to 125,748 population controls. ClinGen definitively disease-associated inherited heart disease genes were amplified using RNA extracted from fresh blood, derived cardiomyocytes, and myectomy tissue. Variants were functionally assessed and classified for pathogenicity. We found 88 in silico-predicted splice-disrupting variants in 128 out of 1242 (10.3%) unrelated participants. "
A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease.
Kristjan Norland et al. Eur J Hum Genet 2023 9
(Posted: Sep 27, 2023 8AM)
From the abstract: "Polygenic scores (PGS) for coronary heart disease (CHD) are constructed using GWAS summary statistics for CHD. However, pleiotropy is pervasive in biology and disease-associated variants often share etiologic pathways with multiple traits. Therefore, incorporating GWAS summary statistics of additional traits could improve the performance of PGS for CHD. "
Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients.
Nandana D Rao et al. Eur J Hum Genet 2023 9
(Posted: Sep 27, 2023 8AM)
From the abstract: "Overall, 2761 people received uninformative results and 1352 (49%) completed survey items. Respondents averaged 41 years old, 62% were female, and 56% were Non-Hispanic Asian. Results from the FACToR instrument showed mean (SD) scores of 0.92 (1.34), 7.63 (3.95), 1.65 (2.23), and 0.77 (1.50) for negative emotions, positive emotions, uncertainty, and privacy concerns, respectively, suggesting minimal psychosocial harms from genetic screening. Overall, 12.2% and 9.6% of survey respondents believed that their risk of cancer or heart disease, respectively, had changed after receiving their uninformative genetic screening results. Further, 8.5% of respondents planned to make healthcare changes and 9.1% other behavior changes. "
Are You Up to Date on Your Preventive Care?
CDC, July 2023
(Posted: Aug 01, 2023 9AM)
Family health history is a record of the diseases and health conditions in your family. You and your family members share genes. You may also have behaviors in common, like what you do for physical activity and what you like to eat. You may live in the same area and come into contact with similar harmful things in the environment. Family history includes all of these factors, any of which can affect your health. If you have a family history of a chronic disease, like cancer, heart disease, diabetes, or osteoporosis, you’re more likely to get that disease yourself.
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Thomas Hays et al. Circ Genom Precis Med 2023 7 e004050
(Posted: Jul 10, 2023 8AM)
We conducted a prospective evaluation of rGS to improve the care of infants with complex CHD in our cardiac neonatal intensive care unit. In a cohort of 48 infants with complex CHD, rGS diagnosed 14 genetic disorders in 13 (27%) individuals and led to changes in clinical management in 8 (62%) cases with diagnostic results. These included 2 cases in whom genetic diagnoses helped avert intensive, futile interventions before cardiac neonatal intensive care unit discharge, and 3 cases in whom eye disease was diagnosed and treated in early childhood.
CKD Risk Factors
CDC, June 2023
(Posted: Jul 01, 2023 4PM)
Diabetes and high blood pressure are the more common causes of CKD in most adults. Other risk factors include heart disease, obesity, a family history of CKD, inherited kidney disorders, past damage to the kidneys, and older age.
Family history can help identify health risks, but many Latino people know little about theirs
L Medrano, American Heart News, June 2023
(Posted: Jun 30, 2023 10AM)
At the doctor's office, questions about a person's family health history often can help health care professionals determine the risk of developing chronic conditions, including heart disease, high blood pressure and diabetes. But among many Latino people, especially immigrants, talking about and recording family health history is rare. The reasons are not well understood, but studies suggest that cultural influences – family dynamics, stigma, fear and secrecy – can create barriers.
Suddenly, It Looks Like We’re in a Golden Age for Medicine We may be on the cusp of an era of astonishing innovation — the limits of which aren’t even clear yet.
DW Wells, New York Times. June 23, 2023
(Posted: Jun 24, 2023 10AM)
And although the very first person to receive Crispr gene therapy in the United States received it just four years ago, for sickle-cell disease, it has since been rolled out for testing on congenital blindness, heart disease, diabetes, cancer and H.I.V. So far only two applications for such treatments have been submitted to the F.D.A., but all told, some 400 million people worldwide are afflicted by one or more diseases arising from single-gene mutations that would be theoretically simple for Crispr to fix.
To Prevent Heart Attacks, Doctors Try a New Genetic Test
G Kolata, NY Times, May 30, 2023
(Posted: Jun 02, 2023 9AM)
A new genetic test, known as a polygenic risk score looks at a collection of thousands of genetic variants. Each variant contributes little on its own to heart disease risk, but the variants together might point to those who are likely to have heart attacks. Cardiologists hope to use such tests which are not typically covered by health insurance, to identify people most likely to have heart attacks long before they have them.
Summary for Patients: Population Genomic Screening for Three Common Hereditary Conditions.
et al. Ann Intern Med 2023 5 (5) I19
(Posted: Jun 02, 2023 9AM)
Patients who have certain genetic test results are at higher risk for diseases that may be preventable. There is ongoing debate about whether physicians should screen for 3 hereditary conditions: Lynch syndrome (at greater risk for colon cancer), hereditary breast and ovarian cancer, and familial hypercholesterolemia (at greater risk for early heart disease and stroke). This modeling study found that screening for these 3 hereditary conditions is likely cost-effective in U.S. adults younger than 40 years if the testing cost is relatively inexpensive and people have access to preventive care.
Coronary Artery Calcium Score and Polygenic Risk Score for the Prediction of Coronary Heart Disease Events
SS Khan et al, JAMA Network Open, May 23, 2023
(Posted: May 23, 2023 2PM)
Does discrimination change when either a coronary artery calcium score or a polygenic risk score is added to a coronary heart disease (CHD) prediction model based on traditional risk factors? In 2 population-based studies involving 3208 adults aged 45 years through 79 years (Multi-Ethnic Study of Atherosclerosis [MESA], median age 61 years and the Rotterdam Study [RS], median age, 67 years) and of European ancestry, a coronary artery calcium score significantly improved discrimination when added to a traditional risk factor–based score (MESA, 0.09; Rotterdam Study, 0.06), but the polygenic risk score did not. Similar findings were observed when stratified by median age.
Link Between Long Telomeres and Long Life Is a Tall Tale, Study Finds
G Kolata, NY Times, May 4, 2023
(Posted: May 10, 2023 6AM)
The longer a person’s telomeres, researchers found, the greater the risk of cancer and other disorders, challenging a popular hypothesis about the chromosomal roots of vitality. While short telomeres do lead to health problems, long telomeres lead to health problems of their own. Far from extending life, long telomeres appear to cause cancer and a blood disorder known as CHIP, a condition that increases the risk of blood cancers and heart disease.
Cardiovascular Disease Risk Assessment Using Traditional Risk Factors and Polygenic Risk Scores in the Million Veteran Program.
Jason L Vassy et al. JAMA Cardiol 2023 5
(Posted: May 04, 2023 6AM)
Do polygenic risk scores (PRSs) for coronary heart disease and acute ischemic stroke predict incident atherosclerotic cardiovascular disease (ASCVD) events?
In an ancestrally diverse, primary prevention sample of almost 80?000 veterans observed for up to 7 years, PRSs were significantly associated with incident myocardial infarction, acute ischemic stroke, and cardiovascular death. Discrimination was modest overall but greater among women and younger participants.
A Predictive Model of Ischemic Heart Disease in Middle-Aged and Older Women Using Data Mining Technique
J Lim, J Per Med, April 2023
(Posted: Apr 16, 2023 6AM)
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
S Singh et al, IJNS, April 2023
(Posted: Apr 09, 2023 8AM)
During 2010–2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively.
Genetic Testing in Patients With Congenital Heart Disease: You Do No Harm When Using the Right Tools!
Julie De Backer et al. Circulation. Genomic and precision medicine 2023 3 e004104
(Posted: Mar 31, 2023 6AM)
Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Jacqueline S Dron et al. JAMA cardiology 2023 2
(Posted: Feb 02, 2023 6AM)
What is the prevalence of protein-truncating variants (PTVs) in the apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes and their association with low-density lipoprotein (LDL) cholesterol levels and coronary heart disease (CHD)? In this genetic association study including 19?073 US participants and 190?464 UK participants, a PTV was identified in 0.4% of individuals. Estimated untreated LDL cholesterol concentrations were 32% to 37% lower in PTV carriers vs noncarriers, and PTVs were associated with a 49% reduction in CHD risk.
Could Africa be the future for genomics research?
Z Lombard et al, Nature, January 31, 2023
(Posted: Jan 31, 2023 8AM)
Although various enterprises have supported cutting-edge human genomics in Africa, the Human Heredity and Health in Africa (H3Africa) initiative2, which supported this work, has probably contributed the most in terms of infrastructure and training. The US$176-million programme began in 2010, funded by the US National Institutes of Health (NIH) and the UK biomedical charity Wellcome (in partnership with the African Society of Human Genetics). Projects have ranged from population-based genomic studies of common disorders, such as heart disease, to investigations of infectious diseases, such as COVID-19.
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.
Sarah U Morton et al. JAMA network open 2023 1 (1) e2253191
(Posted: Jan 28, 2023 11AM)
Are damaging de novo variants in genes not previously associated with neurodevelopmental risk (dDNV-NR) associated with worse neurologic findings in individuals with congenital heart disease (CHD)? In this cross-sectional study of 221 patients with CHD, dDNV-NRs as a group were not associated with neurologic outcomes. In post hoc analyses, dDNVs and rare putative loss-of-function (pLOF) variants, especially in chromatin-modifying genes, were associated with worse neurodevelopmental and brain magnetic resonance imaging (MRI) metrics.
Genomics and phenomics of body mass index reveals a complex disease network.
Huang Jie et al. Nature communications 2022 12 (1) 7973
(Posted: Jan 02, 2023 0PM)
Using a BMI genetic risk score including 2446 variants, 316 diagnoses are associated in the Million Veteran Program, with 96.5% showing increased risk. A co-morbidity network analysis reveals seven disease communities containing multiple interconnected diseases associated with BMI as well as extensive connections across communities. Mendelian randomization analysis confirms phenotypes across many organ systems, including conditions of the circulatory (heart failure, ischemic heart disease, atrial fibrillation), genitourinary (chronic renal failure), respiratory (respiratory failure, asthma), musculoskeletal and dermatologic systems.
Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease.
Spendlove Sarah J et al. HGG advances 2022 5 (3) 100112
(Posted: Nov 07, 2022 8AM)
Here we used CHD-phenotype matched genome-wide association study (GWAS) summary statistics from the UK Biobank (UKBB) as our base study and whole-genome sequencing data from the CHD cohort (n1 = 711 trios, n2 = 362 European trios) of the Gabriella Miller Kids First dataset as our target study to develop PRSs for CHD. PRSs estimated using a GWAS for heart valve problems and heart murmur explain 2.5% of the variance in case-control status of CHD.
Familial Hypercholesterolemia Screening in Children and Adolescents in the United States: Where Are We Heading?
M Clyne et al, CDC Blog Post, October 14, 2022
(Posted: Oct 14, 2022 10AM)
Familial Hypercholesterolemia (FH) is a genetic condition that results in elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth, resulting in increased risk of heart disease and myocardial infarction. A 2021 blog from our office highlighted the prevalence of FH, diagnostic strategies, treatment management of those with FH, and the public health importance of identifying people with FH. The blog highlights the benefit of earlier age of diagnosis since recommendations for prevention of atherosclerotic cardiovascular disease (ASCVD) includes treatment to lower LDL-C at a younger age.
Personal Stories
Family Heart Foundation, September 2022
(Posted: Sep 24, 2022 7AM)
The Journey to Accepting My FH Diagnosis- “We lost her unexpectedly. From the outside, she had no indication something was wrong.” Charlotte was only 17 when her mother passed away from a heart attack. “She was so petite, and she lived a very stress-free life. She was radiant and active and you would have never known she had heart disease.”
FH Awareness Day is on September 24th
Family Heart Foundation, September 2022
(Posted: Sep 23, 2022 7AM)
Millions of people around the world do not know that they and their families are at severe risk for early heart disease, heart attacks, and even death. Seven out of ten people born today with familial hypercholesterolemia are undiagnosed. Yet, with early diagnosis and treatment, individuals diagnosed with FH can reduce their risk for heart disease by 70%. Together we can raise awareness, find every individual with FH, and prevent early heart disease.
The controversial embryo tests that promise a better baby Some companies offer tests that rank embryos based on their risk of developing complex diseases such as schizophrenia or heart disease. Are they accurate — or ethical?
M Koslov, Nature, September 21, 2022
(Posted: Sep 22, 2022 6AM)
Pre-implantation genetic testing (PGT) for rare genetic disorders and chromosomal abnormalities has become common practice in the US$14-billion IVF industry. But testing for polygenic conditions (often referred to as PGT-P) is much newer, with only a small handful of companies selling it in a few countries, including the United States and Brazil, where it is largely unregulated.
Incremental Value of Polygenic Risk Scores in Primary Prevention of Coronary Heart Disease A Review
JW Gronedick et al, JAMA Internal Medicine, August 22, 2022
(Posted: Aug 22, 2022 4PM)
In this review, polygenic risk scores were significantly associated with CHD risk in all studies. The degree of improvement in C statistic and the net reclassification indexes when PRS was added to traditional risk scores ranged from negligible to modest. Based on established metrics to assess risk prediction scores, the addition of PRS to traditional risk scores does not appear to provide meaningful improvements in clinical decision-making in primary prevention populations.
Heart disease after COVID: what the data say
SM Sidik, Nature, August 2, 2022
(Posted: Aug 03, 2022 6AM)
Some studies suggest that the risk of cardiovascular problems, such as a heart attack or stroke, remains high even many months after a SARS-CoV-2 infection clears up. Researchers are starting to pin down the frequency of these issues and what is causing the damage.
Everyone deserves a diagnosis
The Family Heart Foundation, July 18, 2022
(Posted: Jul 20, 2022 0PM)
“Runs in the family” is not a diagnosis- Over the past 10 years, we have heard from thousands of people who have heart disease or had a stroke caused by an inherited cholesterol disorder. Unfortunately, they did not learn of their genetic condition until it was too late. The damage was done. They were told that heart disease or high cholesterol “runs in the family” but were never given the name of the genetic cause that leads to so much heartache across generations. We believe families deserve a diagnosis so they can get the care they deserve. That is why we have launched this campaign. We hope you will join us to help reach people who have never heard of FH or elevated Lipoprotein(a).
Lipoprotein (a)
CDC, June 29, 2022
(Posted: Jun 28, 2022 4PM)
High levels of lipoprotein (a) increase your likelihood of having a heart attack, a stroke, and aortic stenosis, especially if you have familial hypercholesterolemia or signs of coronary heart disease. High Lp(a) levels, defined as greater than 50 mg/dL (125 nmol/L),3 are common. Median Lp(a) levels vary by race and sex.4 High Lp(a) is seen in people of all races and ethnicities but appears to be more common in Black people.4 Many people with high Lp(a) have no symptoms. However, your doctor may suspect that you have high Lp(a) if you have one or more risk factors such as family history, familial hypercholesterolemia, peripheral artery disease and others.
Integrated multiomic characterization of congenital heart disease.
Hill Matthew C et al. Nature 2022 6
(Posted: Jun 23, 2022 10AM)
Coronary Heart Disease, Family History and Public Health: From Familial Hypercholesterolemia to Elevated Lipoprotein A
CDC Public Health Genomics Webinar, October 24, 2022
(Posted: May 25, 2022 11AM)
Familial hypercholesterolemia (FH), a genetic disorder of cholesterol metabolism affecting millions of people, has emerged as public health genomics priority for preventing premature morbidity and mortality from heart disease. In addition, elevated lipoprotein (a) (Lp(a)) increases the risk of coronary heart disease, occur in 1 in 5 people, have a strong genetic basis, and accentuate the cardiovascular risk from FH and other risk factors. This seminar will explore advances in FH and Lp(a) and the emerging clinical and public health approaches to reducing the burden of cardiovascular disease using genetics and family history.
Congenital Heart Disease Gene: a Curated Database for Congenital Heart Disease Genes
A Yang et al, CIrc Gen Prec Medicine, May 6, 20222
(Posted: May 07, 2022 7PM)
Using AI to predict future cardiac arrest
K O'Leary, Nature Medicine, April 14, 2022
(Posted: Apr 18, 2022 9AM)
Sudden cardiac death from arrhythmia (SCDA) is a leading cause of mortality worldwide, especially among people with heart disease. Although implantable devices can effectively prevent SCDA, assessment tools for identifying those at risk are hugely inadequate. A new study developed a machine-learning model for predicting SCDA risk (at all times up to 10 years) in people with ischemic heart disease. The model uses neural networks that learn from scarring patterns on magnetic resonance images and from clinical covariates. It was developed and tested on an internal cohort (N = 156) and an external multi-center cohort (N = 113), and was shown to outperform current risk-prediction models.
When You Have Both: Managing FH and High Lp(a)
Family Heart Foundation, March 29, 2022
(Posted: Apr 01, 2022 7AM)
Knowing you have two genetic conditions that can lead to early heart disease is not an easy thing to live with. I have days where I feel invincible, and I have days where I feel like a ticking time bomb. But one way to ease my anxieties is knowing I’m taking every step possible to take my health in my own hands. Luckily, I live in a time where multiple LDL lowering medications are available. In 1966, when my grandfather had his fatal heart attack at 30 years old, there weren’t even statins. I know taking my medicine and regularly seeing my lipid specialist gives me an advantage previous generations didn’t have.
Does Moderate Drinking Protect Your Heart? A Genetic Study Offers a New Answer.
G Kolata, NY Times, March 29, 2022
(Posted: Mar 30, 2022 6AM)
By studying the relationship between gene variants and alcohol consumption, scientists found no real cardiac benefit to drinking, even modestly. Researchers have found genetic variants that predispose a person to heavier or lighter drinking. Because the variants are distributed randomly in a population, they can serve in a study as the equivalent of randomly assigning people to abstain or to drink at varying levels. Researchers can ask if those with variants that are linked to greater alcohol consumption have more heart disease and high blood pressure than those with variants linked to lower consumption.
Chronic Kidney Disease Basics
CDC, March 2022
(Posted: Mar 15, 2022 7AM)
Kidney diseases are a leading cause of death in the United States. About 37 million US adults are estimated to have CKD, and most are undiagnosed. 40% of people with severely reduced kidney function (not on dialysis) are not aware of having CKD. Talk to your doctor about getting tested if you have any of these risk factors: Diabetes, High blood pressure, Heart disease, Family history of CKD, Obesity.
Before the heart attack
EE Blaak et al, Nature Medicine, February 17, 2022
(Posted: Feb 19, 2022 7AM)
Integrated analysis of microbiome and metabolome profiles in unique cohorts reveals early and late markers of the transition towards ischemic heart disease. Ischemic heart disease (IHD), also known as coronary artery disease, can culminate in heart attack and is a major cause of morbidity and mortality worldwide. To improve clinical outcomes, more insight is required into the complex etiology of IHD. Two large-scale studies integrate extensive gut microbiome and serum metabolome profiles in the progression toward IHD, taking into account key confounders such as metabolic status and medication — and thereby providing insight into the etiology of IHD.
Microbiome and metabolome features of the cardiometabolic disease spectrum
S Fromentin et al, Nature Medicine, February 17, 2022
(Posted: Feb 18, 2022 8AM)
We recruited 1,241 middle-aged Europeans, including healthy individuals, individuals with dysmetabolic morbidities (obesity and type 2 diabetes) but lacking overt IHD diagnosis and individuals with ischemic heart disease at three distinct clinical stages—acute coronary syndrome, chronic IHD and IHD with heart failure—and characterized their phenome, gut metagenome and serum and urine metabolome. We found that about 75% of microbiome and metabolome features that distinguish individuals with IHD from healthy individuals.
Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review.
Maron Barry J et al. Journal of the American College of Cardiology 2022 79(4) 372-389
(Posted: Feb 01, 2022 8AM)
Hypertrophic cardiomyopathy (HCM) is a relatively common often inherited global heart disease, with complex phenotypic and genetic expression and natural history, affecting both genders and many races and cultures. Prevalence is 1:200-1:500, largely based on the disease phenotype with imaging, inferring that 750,000 Americans may be affected by HCM. However, cross-sectional data show that only a fraction are clinically diagnosed, suggesting under-recognition, with most clinicians exposed to small segments of the broad disease spectrum. Highly effective HCM management strategies have emerged, altering clinical course and substantially lowering mortality and morbidity rates.
The Unequal Burden of the Covid-19 Pandemic: Racial/Ethnic Disparities in US Cause-Specific Mortality
AN Luck et al, MEDRXIV, September 17, 2021
(Posted: Sep 18, 2021 11AM)
Using 2019 and 2020 provisional death counts from the National Center for Health Statistics and population estimates from the US Census Bureau, we estimate age-standardized death rates by race/ethnicity and attribute changes in mortality to various causes of death. We also examine how patterns of change across racial/ethnic groups vary by age and sex. Covid-19 death rates in 2020 were highest in the Hispanic community whereas Black individuals had the largest increase in all-cause mortality between 2019 and 2020. Increases in mortality from heart disease, diabetes, and external causes of death accounted for the adverse trend in all-cause mortality within the Black population.
What is pharmacogenomics?
CB de Villiers, PHG Foundation, August 2021
(Posted: Aug 26, 2021 7AM)
Pharmacogenomics, a branch of precision medicine, is the study of genomic characteristics that affect how individuals respond to drugs. It could be useful for improving treatment for a wide variety of conditions such as depression, schizophrenia, heart disease, diabetes, cancer, and infectious diseases.
Blood DNA Methylation and Incident Coronary Heart Disease
Evidence From the Strong Heart Study
AN Acien et al JAMA Cardiology, August 4, 2021
(Posted: Aug 04, 2021 11AM)
In this multi-cohort study, a high-dimensional multi-adjusted model assessing blood DNAm in 2321 American Indian adults selected 505 differentially methylated positions (DMPs) associated with incident CHD in the Strong Heart Study. These DMPs were evaluated in the Women’s Health Initiative, the Framingham Heart Study, and the Atherosclerosis Risk in Communities Study, and several DMPs common across cohorts tagged genes with established associations with cardiovascular disease.
CRISPR injected into the blood treats a genetic disease for first time
J Kaiser, Science, June 26, 2021
(Posted: Jun 26, 2021 1PM)
The gene editor CRISPR excels at fixing disease mutations in lab-grown cells. But using CRISPR to treat most people with genetic disorders requires clearing an enormous hurdle: getting the molecular scissors into the body and having it slice DNA in the tissues where it’s needed. Now, in a medical first, researchers have injected a CRISPR drug into the blood of people born with a disease that causes fatal nerve and heart disease and shown that in three of them it nearly shut off production of toxic protein by their livers.
An ensemble of neural networks provides expert-level prenatal detection of complex congenital heart disease
R Arnaout et al, Nature Medicine, May 14, 2021
(Posted: May 15, 2021 8AM)
Deep learning for detecting congenital heart disease in the fetus
SA Morris et al, Nature Medicine, May 14, 2021
(Posted: May 15, 2021 8AM)
Despite substantial advances in obstetric ultrasound imaging over the past several decades, a large proportion of CHD still goes unrecognized in the prenatal period. New advances in machine learning could facilitate and reduce disparities in the prenatal diagnosis of congenital health disease, the most common and lethal birth defect.
A New Era of Genetic Testing in Congenital Heart Disease: A Review.
Morrish Ansley M et al. Trends in cardiovascular medicine 2021
(Posted: May 11, 2021 9AM)
We highlight important challenges and considerations when providing genetics consults and testing in pediatric CHD and illustrate the role of a dedicated CHD genetics clinic. Key lessons include that a) a genetic diagnosis can have clinical utility that justifies testing early in life, b) adequate genetic counselling is crucial to ensure families are supported, understand the range of possible results, and are prepared for new or unexpected health information, and c) further integration of the clinical genetics and cardiology workflows will be required to effectively manage the burgeoning information arising from genetic testing
A Global Call to Action – Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia
The FH Foundation, April 21, 2021
(Posted: Apr 28, 2021 8AM)
Healthcare systems around the world have failed to rescue individuals born with Familial Hypercholesterolemia (FH), even though we have had life-saving therapies for the last 34 years. Without the societal commitment to screen, diagnose, and manage FH, the opportunity to prevent heart disease and stroke for an entire generation has been lost.
Understanding Pregnancy Loss, Infertility, Birth Defects and the MTHFR gene: What Everyone Should Know
J Gunter, the Vajenda, March 27, 2021
(Posted: Mar 29, 2021 6AM)
Many people have erroneously linked MTHFR polymorphisms with a myriad of medical conditions. In the world of reproductive medicine, it is blamed for a host of things, such as infertility, miscarriages, stillbirths, failure of in vitro fertilization (IVF), preecplampsia (a serious medical condition during pregnancy), and having a child with autism, Down syndrome, birth defects that impact the heart (congenital heart disease), and neural tube defects.
Announcing partnership with Alliance for Million Hearts Campaign
The FH Foundation January, 2021
(Posted: Feb 13, 2021 11AM)
The campaign is a new public-private coalition with the nation’s leading organizations and thought leaders to confront the nation’s leading cause of death – cardiovascular disease. The national campaign will focus on helping more people understand their risk for heart disease and stroke, believe in their power to take steps that lower their risks.
American Heart Month 2021- Feeling the pressure? We can help.
CDC, February 2021
(Posted: Feb 02, 2021 11AM)
February is American Heart Month, a time when all people can focus on their cardiovascular health.
The CDC Division for Heart Disease and Stroke Prevention is shining a light on hypertension (high blood pressure), a leading risk factor for heart disease and stroke.
Association of Sickle Cell Trait With Incidence of Coronary Heart Disease Among African American Individuals
HI Hyacinth et al, JAMA Network Open. January 5, 2021
(Posted: Jan 06, 2021 8AM)
In this cohort study of 23?197 African American individuals in 5 cardiovascular epidemiologic studies, sickle cell trait was not associated with increased risk of myocardial infarction or coronary heart disease among African American individuals
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease
SU Morton et al, JAMA Cardiology, October 21, 2020
(Posted: Oct 22, 2020 9AM)
In this case-control study, loss-of-function variants in cancer risk genes were increased approximately 1.3-fold in 4443 patients with CHD compared with 9808 control participants. This burden was highest in cancer risk genes previously associated with CHD (7.2-fold) or that regulate gene expression (1.9-fold); patients with CHD and extracardiac anomalies and/or neurodevelopmental delay had the highest rates of damaging variants in cancer risk genes.
Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death.
Singer Emma S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep
(Posted: Sep 27, 2020 2PM)
Copy-number variant (CNV) analysis is increasingly performed in genetic diagnostics. We leveraged recent gene curation efforts and technical standards for interpretation and reporting of CNVs to characterize clinically relevant CNVs in patients with inherited heart disease and sudden cardiac death.
The Future of Genetics and Heart Disease
FH Foundation annual inaugural Robert Hegele seminar, September 24, 2020
(Posted: Sep 16, 2020 8AM)
This session includes classification and screening for FH and severe hypercholesterolemia, how human genetic studies have led to important therapeutic advances; the role of patients as a driving force behind Dr. Hegele’s research
Genetic Disease Risk Impacted by Entire Genome, Study Reveals
J Kent, Health Analytics, August 27, 2020
(Posted: Aug 28, 2020 8AM)
In people with a single-gene variant that contributes to high genetic disease risk – specifically for heart disease, breast cancer, or colorectal cancer – the rest of the genome can alter that risk. Some individuals are genetically predisposed to disease, but these disease predictions aren’t always accurate.
Clinical outcomes of a genomic screening program for actionable genetic conditions
AH Buchanan et al, Genetics in Medicine, June 30, 2020
(Posted: Jul 01, 2020 8AM)
A study of electronic health records shows that among individuals with variants in tier1 genes (BRCA, Lynch syndrome, familial hypercholesterolemia, 87% did not have a prior genetic diagnosis. Genomic screening programs can identify individuals at increased risk of cancer and heart disease and facilitate risk management and early cancer detection.
Genomic analyses implicate noncoding de novo variants in congenital heart disease
F Richter et al, Nature Genetics, June 29, 2020
(Posted: Jul 01, 2020 8AM)
A ‘Cure for Heart Disease’? A Single Shot Succeeds in Monkeys
G Kolata, NY Times, June 27, 2020
(Posted: Jun 29, 2020 8AM)
In the first gene-editing experiment of its kind, scientists have disabled two genes in monkeys that raise the risk for heart disease (PCSK9 and LDL). Humans carry the genes as well, and the experiment has raised hopes that a leading killer may one day be tamed.
Could tracking RNA in body fluids reveal disease?
E Dolgin, Nature Outlook, June 17, 2020
(Posted: Jun 22, 2020 9AM)
Tests that detect extracellular RNA to spot cancer, heart disease and other conditions are in development. However, heterogeneity of the RNA repertoire can make it difficult to discern clinically useful biomarkers amid the background molecular noise.
Are You at Higher Risk for Severe Illness?
CDC, March 2020
(Posted: Mar 20, 2020 0PM)
People who are at higher risk from severe illness
Some people may be at higher risk of getting very sick from this illness. This includes:
•Older adults
•People who have serious underlying medical conditions like:
?Heart disease
?Diabetes
?Lung disease
Heart Disease Family Health History, and Familial Hypercholesterolemia
CDC, March 2020
(Posted: Mar 05, 2020 8AM)
Having a family health history of heart disease makes you more likely to develop heart disease yourself. In some cases, having family members with heart disease at a young age (age 50 or younger) can be a sign of familial hypercholesterolemia, a genetic disease that causes high cholesterol. Take time to collect your family health history of heart disease.
Down syndrome.
Antonarakis Stylianos E et al. Nature reviews. Disease primers 2020 Feb (1) 9
(Posted: Feb 27, 2020 7AM)
Since the first description of trisomy 21, we have learned much about intellectual disability and genetic risk factors for congenital heart disease. Clinical trials to ameliorate intellectual disability in DS signal a new era in which therapeutic interventions based on knowledge of the molecular pathophysiology of DS can now be explored.
Making Informed CHOICES: The Launch of a "Big Data" Pragmatic Trial to Improve Cholesterol Management and Prevent Heart Disease in Ontario.
Ferreira-Legere Laura E et al. Healthcare quarterly (Toronto, Ont.) 2020 Jan 22(4) 6-9
(Posted: Feb 26, 2020 8AM)
The study is a pragmatic, registry-based, cluster randomized controlled trial that aims to improve cholesterol management through appropriate statin use in adults and to ultimately reduce cardiovascular events in high-risk communities. It uses an innovative, multicomponent intervention approach that includes audit and feedback reports and educational materials.
Genetic considerations for adults with congenital heart disease.
Ito Seiji et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Feb
(Posted: Feb 19, 2020 9AM)
The population of adults with CHD is growing rapidly with advances in medical care. Genetic causes of CHD can be classified into: (a) chromosomal aneuploidy, (b) large chromosomal deletion or duplication, (c) single gene mutation, and (d) copy number variation. 20-30% of CHD cases have an established etiology. The role of genetics in the field is increasing.
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
MS Reuter et al, Genetics in Medicine, February 10, 2020
(Posted: Feb 10, 2020 9AM)
We analyzed genome sequencing data of 111 families with cardiac lesions for rare, disease-associated variation. In 14 families (12.6%), we identified causative variants: seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six were inherited from parents with no or subclinical heart phenotypes.
Genetics of Congenital Heart Disease.
Williams Kylia et al. Biomolecules 2019 Dec (12)
(Posted: Feb 07, 2020 8AM)
The genetic workup for structural congenital heart disease.
Jerves Teodoro et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 Dec
(Posted: Feb 07, 2020 8AM)
Genetic Contribution to Congenital Heart Disease (CHD).
Shabana N A et al. Pediatric cardiology 2020 Jan (1) 12-23
(Posted: Feb 07, 2020 8AM)
The elucidation of genetic components remains difficult because it is a genetically heterogeneous disease. Currently, the major identified genetic causes include chromosomal abnormalities, large subchromosomal deletions/duplications, and point mutations. However, much more remains to be unraveled.
Does Heart Disease Run in Families? Here's Everything You Need to Know
TG Hope, Better Homes and Garden, January 2020
(Posted: Jan 28, 2020 7AM)
Knowing the who, what, when, and whys of your relatives’ heart disease histories helps you best protect your own. The heart health of your first-degree relatives—parents, siblings, children—impacts your own risk the most, especially if they developed heart disease prematurely.
Reducing the Global Public Health Burden of Familial Hypercholesterolemia: More Work Ahead
MJ Khoury et al, CDC Blog, January 21 2020
(Posted: Jan 21, 2020 1PM)
Historically, FH has served as a paradigm for the role of cholesterol in heart disease. FH now also serve as a paradigm for bringing together the strengths of both public health and precision medicine approaches to health. The recommendations of this international group highlight the importance of integrating FH care in health systems with a lifelong approach to care
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak Cigdem et al. Genome medicine 2020 Jan (1) 9
(Posted: Jan 17, 2020 8AM)
'Polygenic' analyses may sharpen disease risk predictions.
Kaiser Jocelyn et al. Science (New York, N.Y.) 2019 12 (6472) 1431
(Posted: Dec 21, 2019 4PM)
Recent studies show a woman could receive a more individualized, accurate cancer risk estimate by factoring in other gene variants. A preprint posted last month finds that a person's “polygenic” background influences not only the disease risk conferred by a BRCA1 defect, but also risks from single gene mutations linked to colorectal cancer and heart disease.
Biological age in UK Biobank: biomarker composition and prediction of mortality, coronary heart disease and hospital admissions
MS Chan et al, MedrxIV, December 15, 2019
(Posted: Dec 15, 2019 4PM)
This study identified that markers of impaired function in a range of organs account for a substantial proportion of the apparent effect of age on disease and hospital admissions. It supports a broader, multi-system approach to research and prevention of diseases of ageing
Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis.
M Vujkovic et al, BIoRXIV preprints, November 2019
(Posted: Nov 30, 2019 10AM)
We investigated the genetic etiology of T2D-related vascular outcomes in the MVP and observed statistical SNP-T2D interactions at 13 variants, including 3 for coronary heart disease, 1 for PAD, 2 for stroke, 4 for retinopathy, 2 for CKD, and 1 for neuropathy.
FH Treatments and Preventing Heart Disease
Youtube video, November 26, 2019
(Posted: Nov 28, 2019 9AM)
Katherine Wilemon from the FH Foundation speaks to Dr. Michael Gibson about the opportunities for the diagnosis and treatment of familial hypercholesterolemia. Watch this episode of ClinicalTrialResults from AHA 2019.
Predicting Benefit From Evolocumab Therapy in Patients With Atherosclerotic Disease Using a Genetic Risk Score: Results From the FOURIER Trial
NA Marston et al, Circulation, November 11, 2019
(Posted: Nov 14, 2019 8AM)
This is a study of >14,000 patients with atherosclerotic heart disease from the FOURIER trial. Patients with high polygenic risk, regardless of clinical risk, had a high event rate and derived the greatest relative and absolute benefit from evolocumab, which mitigated this risk.
Family History and Heart Disease
NIDDK podcast, November 11, 2019
(Posted: Nov 12, 2019 8AM)
Heart disease is the number one cause of death for men and women. And if you have a family history of heart disease that may put you at a greater risk. Your risk increases if a close relative was diagnosed with heart disease, especially if it was before the age of 55 in your father or brother, or before the age of 65 if it was your mother or a sister.
UVM Health Network to offer DNA testing as part of primary care
K Jickling, Support VTDigger, November 7,y 2019
(Posted: Nov 09, 2019 8AM)
The tests are part of a pilot project that will allow primary care doctors and geneticists to identify and treat preventable diseases earlier. Using blood drawn as part of the appointment, the tests will analyze 147 genes for mutations that are linked to certain diseases, such as cancer or heart disease.
Looking back and thinking forwards - 15 years of cardiology and cardiovascular research.
Kalman Jonathan M et al. Nature reviews. Cardiology 2019 Sep
(Posted: Oct 21, 2019 10AM)
Several practice-changing breakthroughs are described, such as those that target risk factors such as inflammation and elevated LDL-cholesterol levels. Furthermore, these key opinion leaders predict that machine learning technology and data derived from wearable devices will pave the way towards the coveted goal of personalized medicine.
Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease
E Fotieu et al, Circulation Genomics and Precision Medicine, October 2019
(Posted: Oct 19, 2019 7AM)
We compared copy number variants present in 4634 nonsyndromic CHD cases derived from publicly available data resources and the literature, and >27?000 healthy individuals. We analyzed deletions and duplications independently and identified copy number variant regions exclusive to cases. These data were integrated with whole-exome sequencing data.
Color Makes Polygenic Scores Available to Participants Through New Study
A Zhou, Color, October 2019
(Posted: Oct 19, 2019 7AM)
Researchers have increasingly recognized that most individuals with common diseases such as CAD do not have a rare monogenic mutation. Rather, their inherited risk may be due to the cumulative effect of many variants scattered across the genome. Each of these alone has a small contribution to heart disease risk — but in aggregate they can have a large effect.
Doctors Limit What to Tell Patients About Their DNA Test. Should They?
M Evans et al, Wall Street Journal. October 4, 2019
(Posted: Oct 06, 2019 2PM)
The Mayo Clinic is scanning 20,000 genes for thousands of patients to study genes’ role in disease. It will hand over results for just 59. Mayo will look for certain disease-causing gene variants for heart disease or breast cancer, and offer results to patients who have them. But it doesn’t look at variants for early-onset Alzheimer’s or Lou Gehrig’s disease.
Heart Disease and Stroke Map Widget
CDC, 2019
(Posted: Oct 01, 2019 8AM)
Deadly condition more common than once thought-Familial hypercholesterolemia raises risk of heart disease, death
K Corso, ABC News, September 30, 2019
(Posted: Oct 01, 2019 8AM)
Familial hypercholesterolemia is a genetic problem where the gene for clearing out LDL cholesterol is actually mutated, it's broken, so what happens is LDL cholesterol, the bad cholesterol, builds up in the bloodstream and then causes plaque or atherosclerosis to form. Diet and exercise aren't enough to address FH.
Clinical utility of exome sequencing in infantile heart failure
A Ritter et al, Genetics in Medicine, September 16, 2019
(Posted: Sep 17, 2019 7AM)
Dilated cardiomyopathy was the predominant cardiac diagnosis, seen in 60% of patients. A molecular diagnosis was identified in 66.7% of patients (10/15). Of those diagnoses, 70% would not have been detected using multigene next-generation sequencing panels.
Genetics of rheumatic fever and rheumatic heart disease
B Muhamed et al, Nature Rev Cardiology, September 16, 2019
(Posted: Sep 17, 2019 7AM)
A combination of risk factors can contribute to increased susceptibility to group A streptococcal infection, rheumatic fever and, ultimately, RHD. The risk of rheumatic fever in an individual with a family history of RHD is nearly fivefold higher than that in an individual with no family history of RHD.
Heart Failure in the Era of Precision Medicine: A Scientific Statement From the American Heart Association.
Cresci Sharon et al. Circulation. Genomic and precision medicine 2019 Sep HCG0000000000000058
(Posted: Sep 13, 2019 10AM)
The goals of this scientific statement are to provide a comprehensive overview of the current state of these omics as they relate to the development and progression of heart failure and to consider the current and potential future applications of these data for precision medicine with respect to prevention, diagnosis, and therapy.
A protocol integrating remote patient monitoring patient reported outcomes and cardiovascular biomarkers
C Shufelt et al, NPJ Digital Medicine, September 3, 2019
(Posted: Sep 03, 2019 10AM)
Using biosensor, biomarkers, and patient-reported outcomes in participants with stable ischemic heart disease, the PRE-MACE study is designed to measure cross-sectional correlations and establish the ability of remote monitoring to predict major adverse cardiovascular event.
Association of Genetic Variants Related to Combined Exposure to Lower Low-Density Lipoproteins and Lower Systolic Blood Pressure With Lifetime Risk of Cardiovascular Disease
B Ference et al JAMA, September 2, 2019
(Posted: Sep 02, 2019 6AM)
Mendelian randomization & genetic risk scores in action: Using UK biobank data, this study found that genetic variants associated with lower LDL-C and systolic blood pressure are associated with lower lifetime risk of cardiovascular disease.
Association of Multifaceted Mobile Technology–Enabled Primary Care Intervention With Cardiovascular Disease Risk Management in Rural Indonesia
A Patel et al, JAMA Cardiology, August 2019
(Posted: Aug 29, 2019 8AM)
Use of polygenic risk scores and other molecular markers to enhance cardiovascular risk prediction: prospective cohort study and modelling analysis
L Sun et al, BioRXIV, August 2019
(Posted: Aug 24, 2019 4PM)
Adding information on both PRS and selected biochemistry markers moderately enhanced CVD predictive accuracy and could improve primary prevention of CVD. However, our modelling suggested that targeted assessment of molecular markers among individuals at intermediate-risk would be more efficient than blanket approaches.
Prevalence and clinical importance of titin truncating variants in adults without known congestive heart failure
JP Pirruccello et al, MedRXIV, August 2019
(Posted: Aug 23, 2019 8AM)
Cross-sectional studies of various forms of dilated cardiomyopathy have noted a truncating mutation in the gene encoding titin ('TTNtv') in 7-30% of patients, but the clinical importance of identifying a TTNtv in an asymptomatic adult is largely unknown.
Risk of Ischemic Stroke and Peripheral Arterial Disease in Heterozygous Familial Hypercholesterolemia: A Meta-Analysis.
Akioyamen Leo E et al. Angiology 2019 Sep 70(8) 726-736
(Posted: Aug 21, 2019 8AM)
Heterozygous familial hypercholesterolemia (HeFH) is a common genetic disorder predisposing affected individuals to lifelong low-density lipoprotein cholesterol (LDL-C) elevation and coronary heart disease. However, whether HeFH increases the risk of peripheral arterial disease (PAD) and ischemic stroke is undetermined.
Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders
Cerrone Marina et al. Circulation 2019 08 (7) 595-610
(Posted: Aug 17, 2019 9AM)
Inheritable cardiac disorders are often associated with increased risk of sudden death in the young. In recent years, through genotype-phenotype studies and methodological advances in genetics, it has become evident that most inheritable cardiac disorders are not monogenic but, rather, have a complex genetic basis.
Is Genetic Testing for Heart Disease Right for Me?
Moscarello Tia et al. JAMA cardiology 2019 Jul
(Posted: Aug 02, 2019 8AM)
Heart disease is a leading cause of death worldwide and often runs in families. Certain heart conditions are caused by a single harmful DNA mutation while others are caused by the combined effect of many smaller-impact DNA variations. Tests for genetic conditions can be ordered by cardiologists and genetic counselors, and can help patients and their families.
Association of APOL1 Risk Alleles with Cardiovascular Disease in African Americans in the Million Veteran Program.
Bick Alexander G et al. Circulation 2019 Jul
(Posted: Jul 30, 2019 8AM)
13% of African-Americans carry two copies of the APOL1 risk alleles, which are associated with increased risk of chronic kidney disease. The study We sought to test the association of APOL1 G1/G2 alleles with coronary artery disease (CAD), peripheral artery disease (PAD), and stroke among African American individuals in the Million Veteran Program (MVP).
