Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathyHypertrophic cardiomyopathy (HCM) is the second most common cardiomyopathyCardiomyopathy in childrenChildren. It is characterized by myocyte hypertrophy and disarray resulting in left ventricular hypertrophy most often affecting the basal interventricular septum. HCM is often asymptomatic until adulthood but may manifest with symptoms of left ventricular outflow tract obstructionLeft ventricular outflow tract obstruction (LVOTO), heart failureHeart failure, or ventricular arrhythmiasArrhythmia. Diagnosis is based on maximal left ventricular wall thickness z score ≥ 2.5 on echocardiogram or magnetic resonance imaging (MRI). Serial echocardiogram is the mainstay of clinical follow up assessment with special attention to wall thickness, outflow tract obstruction, mitral valveMitral valve abnormalities, systolic and diastolic function. Regular ECG and Holter testing are also recommended for arrhythmiaArrhythmia surveillance. Existing management is focused on alleviating symptoms and preventing disease complications such as arrhythmiasArrhythmia and sudden cardiac deathSudden cardiac death. For those with symptoms of LVOTO, medical management is recommended, with myectomyMyectomy reserved for those with symptoms refractory to medications. For those with risk factors for sudden cardiac deathSudden cardiac death (SCD), shared decision making with patients and families should guide Implantable cardioverter defibrillatorImplantable cardioverter defibrillator (ICD) insertion. Given the inheritance risk in families, clinical screening is recommended for all first-degree relatives with consideration for geneticGenetics testing in those families in whom the index case is known to harbor a pathogenic variant.