Czepluch F, Hasenfuß G, Wollnik B
Klinik für Kardiologie und Pneumologie, Universitätsmedizin Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Deutschland.
Institut für Humangenetik, Universitätsmedizin Göttingen, Göttingen, Deutschland.
Internist (Berl). 2018 Aug;59(8):790-798. doi: 10.1007/s00108-018-0452-z.
Genetic counselling and subsequent molecular genetic testing should be performed in patients when an inherited monogenic form of heart disease is suspected. For the individual patient as well as for the (possibly asymptomatic) relatives, molecular diagnostics is important for an early diagnosis, (preventive) therapy and prognosis assessment. Using the example of hypertrophic cardiomyopathy (HCM), the most common monogenic form of structural heart disease, essential aspects of modern genetic counselling are elucidated. Specific examples of one case with a classical form of hypertrophic obstructive cardiomyopathy and one case of congenital HCM with Noonan's syndrome are discussed.
当怀疑患者患有遗传性单基因心脏病时，应进行遗传咨询及后续分子遗传学检测。对于个体患者及其（可能无症状的）亲属而言，分子诊断对于早期诊断、（预防性）治疗及预后评估都很重要。以肥厚型心肌病（HCM）为例，这是结构性心脏病最常见的单基因形式，阐述了现代遗传咨询的基本要点。讨论了一例典型肥厚型梗阻性心肌病和一例伴有努南综合征的先天性HCM的具体病例。
