Bundgaard H, Havndrup O, Høst U, Kelbaek H
H:S Rigshospitalet, Hjertecentret, medicinsk afdeling B 2141.
Ugeskr Laeger. 1998 Sep 14;160(38):5478-83.
Hypertrophic cardiomyopathy is a heterogeneous, progressive disease with a variable age of debut. Hypertrophic cardiomyopathy is characterized by myocardial hypertrophy with a bizarre fibre disarray. Angina pectoris, dyspnoea and syncope are the most frequent symptoms. Hypertrophic cardiomyopathy is an important cause of sudden death, especially in children and young adults. The aetiology is genetic in more than 60% of the cases, with an autosomal dominant mode of inheritance. More than 50 different mutations involving six genes have so far been associated with the development of hypertrophic cardiomyopathy. These mutations are located to genes coding for several of the proteins in the cardiac sarcomere. The protein changes seem to compromise contractility as well as sarcomere assembly, thereby secondarily causing compensatory hypertrophy. The management of hypertrophic cardiomyopathy has been markedly improved within the last few years. This emphasizes the importance of determining prognostic markers in each patient. A specific genetic diagnosis may prove to be of major importance.
肥厚型心肌病是一种异质性、进行性疾病，发病年龄各异。肥厚型心肌病的特征是心肌肥厚伴奇异的纤维排列紊乱。心绞痛、呼吸困难和晕厥是最常见的症状。肥厚型心肌病是猝死的重要原因，尤其是在儿童和年轻人中。超过60%的病例病因是遗传的，呈常染色体显性遗传模式。迄今为止，已发现涉及六个基因的50多种不同突变与肥厚型心肌病的发生有关。这些突变位于编码心肌肌节中几种蛋白质的基因上。蛋白质变化似乎损害了收缩力以及肌节组装，从而继发引起代偿性肥厚。在过去几年中，肥厚型心肌病的治疗有了显著改善。这强调了为每位患者确定预后标志物的重要性。特定的基因诊断可能证明具有至关重要的意义。
