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Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. Its prevalence is estimated between 1:500 and 1:200. HCM is defined by left ventricular hypertrophy (wall thickness ≥ 15 mm) in absence of abnormal loading conditions such as hypertension. It is caused by mutations in cardiac sarcomere protein genes and inheritance is autosomal dominant. HCM is heterogeneous in terms of its clinical presentation, progression and prognosis, ranging from absence of symptoms in genotype-positive individuals to severe left ventricular hypertrophy, sudden cardiac death and end-stage heart failure at young age. Timely identification of HCM patients and initiation of proper treatment requires knowledge of the various manifestations of HCM. We describe the case of a 60-year-old female HCM patient and the four clinical stages of HCM with corresponding complications and treatment options.

Type

Journal article

Journal

Ned Tijdschr Geneeskd

Publication Date

07/02/2019

Volume

163

Keywords

Cardiomyopathy, Hypertrophic, Death, Sudden, Cardiac, Female, Genotype, Heart Failure, Humans, Middle Aged, Mutation