A case report of complex congenital heart disease co-existing with hypertrophic cardiomyopathy

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Myocardial abnormalities can be overlooked in congenital heart disease (CHD).
• Hypertrophic cardiomyopathy co-existing with CHD is rare and often considered coincidental.

Observation:

• A young adult with single-ventricle CHD and Fontan palliation experienced cardiac arrest.
• Advanced imaging (CMR) and genetic testing revealed hypertrophic cardiomyopathy due to a myosin-binding protein C variant.
• Electrophysiological studies induced ventricular arrhythmias.

Findings:

• Ventricular hypertrophy in CHD can stem from congenital anomalies or concurrent cardiomyopathies.
• Cardiac MRI and genetic testing are vital for differentiating hypertrophy causes.
• A pathogenic cardiac myosin-binding protein C variant confirmed hypertrophic cardiomyopathy.

Implications:

• Accurate diagnosis of co-existing hypertrophic cardiomyopathy in CHD is essential.
• Multidisciplinary care improves management of complex cardiac conditions.
• Genetic testing and advanced imaging enhance diagnostic capabilities in CHD.