Familial hypercholesterolemia, hypertrophic cardiomyopathy, Long QT syndrome, ARVC — what the 5 major inherited cardiac conditions are, how they are inherited, how they are diagnosed, and what genetic testing can change about your management.
Family history of premature cardiovascular disease is one of the most powerful independent risk factors in cardiology — yet it is often dismissed with "you can't change your genes." That misses the point entirely. Genetic risk doesn't determine your fate, but it should determine the aggressiveness of your prevention.
This guide covers the five most clinically significant inherited cardiac conditions, what each means for you and your first-degree relatives, and when genetic testing transitions from interesting to management-changing.
LDL receptor defects causing LDL of 190-400+ from birth — the most common serious cardiac genetic disorder, affecting 1 in 250.
The leading cause of sudden cardiac death in young athletes — autosomal dominant, 50% transmission. Echo and genetic screening of relatives.
Ion channel mutations causing prolonged QT and sudden arrhythmia risk — specific triggers (swimming, noise, sleep) by subtype.
TTN and LMNA mutations causing progressive LV dilation — LMNA carries disproportionate arrhythmia risk requiring early ICD consideration.
Desmosomal protein mutations replacing RV muscle with fibrofatty tissue — competitive sport prohibition is the most important intervention.
Who should consider genetic cardiac testing — the 6 key indications and what testing changes about management.
“Your family history is the genetic diary your relatives kept for you. When a father has a heart attack at 48 or a sibling dies suddenly at 35, that information belongs in your medical record — and it should change how aggressively we manage your risk today. Not wait for your own event.”
The family history sitting in your medical record could be the most important number in your chart.
Get Genetics Guide — $37