Introduction

Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left and/or right ventricular hypertrophy and dysfunction. HCM shows wide pheno-typical heterogeneity with regard to age of onset, degree and distribution of hypertrophy, and type and severity of clinical manifestations. The familial form of HCM (familial hypertrophic cardiomyopathy, or FHC) is genetically heterogeneous. The typical form is caused by mutations in 12 different genes encoding proteins of the contractile apparatus. The variability of the phenotype depends not only on the major gene mutation, but on the complexity of the genetic status and modifier genes. Molecular genetic studies have given insights into the pathogenesis of FHC and have elucidated ''poison peptide'' and ''haploinsufficieny'' as molecular mechanisms. A common underlying mechanism could be energy depletion with a key role in hypertrophy development.

produced by multiple mechanisms. LV outflow tract obstruction depends on both the LV contractility state and loading condition. Mitral insufficiency from distortion of the mitral valve apparatus can be severe and can contribute to symptoms of heart failure. Diastolic dysfunction is a hallmark finding in HCM and can lead to diastolic heart failure. Myocardial ischemia results from a mis-balance of oxygen demand/supply in the hypertrophied myocardium even in the absence of coronary artery disease. Sustained ventricular tachycardias and ventricular fibrillation can lead to syncope and sudden cardiac death (SCD); embolic complications of atrial fibrillation may increase morbidity.

The clinical course of FHC does not follow a unique pattern. The age of onset varies widely between 15 and 60 years, depending on the genetic background. SCD is often the first manifestation in young individuals and competitive athletes. Patients can exhibit no or only mild symptoms over the long term, or the disease can progress to systolic dysfunction and heart failure.

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