Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Main|Search|PHGKB
Search PHGKB:

Last Posted: Sep 16, 2022
spot light Highlights

Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features
Y Wang et al, JAMA Cardiology, September 15, 2022

In a whole-exome sequencing genetic study, 17% of individuals with high-risk SCAD had rare variants in vascular connective tissue disease genes, representing a significant enrichment compared with the Genome Aggregation Database (gnomAD), especially in COL3A1 and Loeys-Dietz syndrome genes. Rare variants in genes recently discovered by genome-wide association study, ADAMTSL4 and LRP1, identified in 6% of the cohort, were also enriched.

New Cardiovascular Risk Assessment Techniques for Primary Prevention: JACC Review Topic of the Week.
Verma Kunal P et al. Journal of the American College of Cardiology 2022 7 (4) 373-387

Risk factor-based models fail to accurately estimate risk in select populations, in particular younger individuals. A sizable number of people are also classified as being at intermediate risk, for whom the optimal preventive strategy could be more precise. Several personalized risk prediction tools, including coronary artery calcium scoring, polygenic risk scores, and metabolic risk scores may be able to improve risk assessment, pending supportive outcome data from clinical trials.

Everyone deserves a diagnosis
The Family Heart Foundation, July 18, 2022

“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 Brand

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.


Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

TOP