A case report in hypertrophic cardiomyopathy in a recreational athlete: multimodality risk assessment, genetic insights, and shared decision-making

TL;DR

A 38-year-old athlete with heart disease was evaluated using multiple tests and genetic analysis to manage risk while allowing continued recreational activity.

Contribution

The study demonstrates how multimodal imaging, genetic insights, and risk calculators can guide personalized care for athletes with hypertrophic cardiomyopathy.

Findings

The patient had asymmetric non-obstructive HCM with late gadolinium enhancement on MRI.

Genetic testing identified a likely pathogenic variant in MYBPC3.

Risk stratification showed a 5.73% 5-year sudden cardiac death risk, leading to implantable device placement.

Abstract

Sports participation in patients with inherited cardiac conditions remains a major challenge, particularly when balancing arrhythmic risk against quality of life.

A case of a 38-year-old recreational athlete diagnosed with hypertrophic cardiomyopathy (HCM) is described. A comprehensive assessment was performed, including electrocardiogram, echocardiography, exercise stress testing, Holter monitoring, and cardiac magnetic resonance, which revealed asymmetric non-obstructive HCM with extensive late gadolinium enhancement. Genetic testing identified two missense variants in MYBPC3, one of which was reclassified as likely pathogenic. Risk stratification using European Society of Cardiology (ESC) and American Heart Association/American College of Cardiology (AHA/ACC) calculators demonstrated a 5.73% 5-year risk of sudden cardiac death (SCD). A subcutaneous implantable cardioverter-defibrillator was implanted after a shared decision-making process, allowing the patient to continue recreational sport while avoiding competitive athletics.

This case highlights the value of multimodal imaging, genetic testing, and guideline-based SCD risk stratification in guiding individualized management of athletes with HCM.

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