Czepluch Frauke S, Hasenfuß Gerd
Klinik für Kardiologie und Pneumologie, Universitätsmedizin Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Deutschland.
Internist (Berl). 2018 Oct;59(10):1063-1073. doi: 10.1007/s00108-018-0485-3.
Rare diseases mostly have a genetic cause. Many rare cardiovascular diseases also have a genetic cause. For target-oriented cardiogenetic diagnostics, expert knowledge in human genetics as well as in clinical cardiology is needed. In recent years, the genetic cause of a number of heart diseases have been, at least in part, elucidated. Especially, certain arrhythmias and cardiomyopathy forms have a monogenetic cause. An early genetic diagnosis means that patients can be treated more effectively. Rare storage diseases also usually have a genetic cause and can manifest themselves in the heart; prominent examples are Fabry disease and amyloidosis. As patients with Fabry disease or amyloidosis suffer from a diverse and variable symptomatology, the correct diagnosis is often difficult.
罕见疾病大多由遗传因素引起。许多罕见的心血管疾病也有遗传病因。对于针对性的心脏遗传学诊断,需要人类遗传学以及临床心脏病学方面的专业知识。近年来,一些心脏病的遗传病因至少在一定程度上已得到阐明。特别是,某些心律失常和心肌病类型有单基因病因。早期基因诊断意味着患者可以得到更有效的治疗。罕见的贮积病通常也有遗传病因,且可在心脏表现出来;典型例子是法布里病和淀粉样变性。由于法布里病或淀粉样变性患者症状多样且变化不定,正确诊断往往很困难。