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).
CDC, June 29, 2022
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.