Hypertrophic cardiomyopathy: Clinical assessment and differential diagnosis

Abstract

Hypertrophic cardiomyopathy (HCM) has a prevalence of ~0.2 % in the general population and is the most genetic among cardiomyopathies (CMP). In fact, familial HCM accounts for 50 % of cases, with the remaining sporadic cases assumed to be de novo mutations. The disease is caused by mutations in one of more than 11 genes encoding for sarcomeric contractile myofilament proteins or components of the Z-disc. Clinically characterized by hypertrophy and diastolic dysfunction of the left ventricle (LV), it has a variety of clinical presentations that correlate with long-term outcome. In some cases, HCM can develop LV systolic dysfunction, configuring the so-called end-stage disease. Electrocardiography (ECG), echocardiography, and cardiac magnetic resonance (CMR) are the most important diagnostic tools. Prognostic stratification and pharmacological and nonpharmacological therapies are chosen on the basis of clinical–laboratory features. Genetic testing can be used to address some therapeutic and prophylactic strategies. HCM enters into the differential diagnosis with many other clinical or physiological conditions characterized by LV hypertrophy, such as hypertensive heart disease, athlete’s heart, cardiac amyloid, and other infiltrative/storage diseases, such as Fabry disease. Clinical evaluation and accurate examination of ECG, echocardiogram, CMR and other diagnostic tools are important in differential diagnosis and choosing specific therapies.