van Driel Beau, Asselbergs Folkert W, de Boer Rudolf A, van Rossum Albert C, van Tintelen J Peter, van der Velden Jolanda, Michels Michelle
Amsterdam UMC, afd. Fysiologie, locatie VUmc.
Contact: B. van Driel (
Ned Tijdschr Geneeskd. 2019 Feb 7;163:D2790.
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.
肥厚型心肌病(HCM)是最常见的遗传性心脏病。其患病率估计在1:500至1:200之间。HCM的定义为在不存在如高血压等异常负荷条件下的左心室肥厚(室壁厚度≥15毫米)。它由心脏肌节蛋白基因突变引起,遗传方式为常染色体显性遗传。HCM在临床表现、病情进展和预后方面具有异质性,从基因型阳性个体无症状到严重左心室肥厚、心源性猝死以及年轻时出现终末期心力衰竭。及时识别HCM患者并启动恰当治疗需要了解HCM的各种表现。我们描述了一名60岁女性HCM患者的病例以及HCM的四个临床阶段、相应并发症和治疗选择。