Subclinical Hypertrophic Cardiomyopathy in Elite Athletes: Knowledge Gaps Persist

JACC Case Rep. 2022 Jan 19;4(2):94-98. doi: 10.1016/j.jaccas.2021.11.004.

Abstract

Subclinical hypertrophic cardiomyopathy (HCM) is a phenotypic entity that has emerged from the increased use of cardiovascular magnetic resonance imaging in the evaluation and family screening of patients with HCM. We describe the case of a competitive athlete with a sarcomere gene mutation and family history of HCM who was found to exhibit the subclinical HCM phenotype on cardiovascular magnetic resonance imaging in the absence of left ventricular hypertrophy. We discuss the clinical uncertainties in her management. (Level of Difficulty: Advanced.).

Keywords: ACTC1, actin alpha cardiac muscle 1; CMR, cardiac magnetic resonance; EF, ejection fraction; HCM, hypertrophic cardiomyopathy; LGE, late gadolinium enhancement; LV, left ventricle; LVH, left ventricular hypertrophy; RV, right ventricle; cardiac magnetic resonance; cardiomyopathy; genetics.

Publication types

  • Case Reports