Genetics/Genomics News

Rare and common genetic variants contribute substantially to susceptibility to hypertrophic cardiomyopathy in the general population and can help improve risk prediction beyond clinical factors, researchers reported.

Lipoprotein(a) may have a causal role in incident atrial fibrillation risk, independent of its effect on atherosclerotic CVD, according to an analysis of U.K. Biobank data.

WASHINGTON — In the phase 1 APOLLO study, a short interfering RNA therapy lowered lipoprotein(a) by a maximum of more than 90% in certain doses, researchers reported at the American College of Cardiology Scientific Session.

Homozygous familial hypercholesterolemia, although rare, is frequently undertreated, especially in non-high-income countries, and is sometimes diagnosed after atherosclerosis or aortic stenosis is already present, researchers reported.

As the COVID-19 pandemic continued to dominate the news, more was learned about its CV implications over the past year. However, the year also featured a number of important developments in other realms of cardiology.

Genetic testing confirmed clinically relevant variants in 20% of patients suspected of having cardiomyopathy or an arrhythmia disorder, with 70% of positive diagnoses having clinical management implications, according to new research.

While rare, certain genetic and multifactorial causes of severe hypertriglyceridemia may warrant special considerations for diagnosis and treatment within their respective patient populations, a speaker reported.

Among people who ordered a genetic test for dyslipidemia, younger people were more likely to have a positive result than older people, according to a presentation at the National Lipid Association Scientific Sessions.

New findings published in the European Journal of Preventive Cardiology highlighted the importance of favorable CV health among middle-aged individuals to prevent type 2 diabetes regardless of genetic disposition.

Genetic testing can be useful for some patients with dyslipidemia, but many factors must be considered when selecting a test, according to a National Lipid Association scientific statement.