In this episode, we explore hypertrophic cardiomyopathy (HCM)—a common inherited cardiac disorder defined by unexplained left ventricular hypertrophy, most often involving the interventricular septum. We break down the underlying genetics of autosomal dominant sarcomere mutations and how they lead to myocyte disarray, diastolic dysfunction, and dynamic left ventricular outflow tract obstruction. Clinically, we highlight hallmark features such as exertional dyspnea, chest pain, syncope, and the classic systolic murmur that increases with Valsalva and decreases with squatting. The episode also reviews diagnostic strategies with echocardiography as the gold standard, along with EKG and cardiac MRI for further evaluation. Management focuses on beta-blockers as first-line therapy, risk stratification for implantable cardioverter-defibrillator (ICD) placement, and key medication considerations. High-yield pearls emphasize HCM as the leading cause of sudden cardiac death in young athletes, the importance of family screening, and avoiding therapies that reduce preload.

References

1. Bushardt RL, Colomb-Lippa DM, Klinger AM, Reed H. The JAAPA QRS Review for PAs: Study Plan and Guide for PANCE and PANRE. 1st ed. LWW; 2021. ISBN: 9781975143817.
2. Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC guideline for the diagnosis and treatment of hypertrophic cardiomyopathy. Circulation. 2020;142(25):e558–e631.
3. Maron BJ, Desai MY, Nishimura RA, et al. Hypertrophic cardiomyopathy: a review. New England Journal of Medicine. 2018;379(7):655–668