Ellims Andris H
Aust Fam Physician. 2017;46(8):553-557.
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease, which generally manifests during adolescence. Adolescents may be diagnosed incidentally, following the investigation of symptoms, or during family screening. Early recognition may prevent sudden cardiac death. First-degree relatives of an adolescent with HCM should be screened for the condition.
The objectives of this article are to review the genetic basis for HCM and discuss clinical presentations of HCM in adolescents, so that general practitioners: develop confidence in requesting investigations in adolescents with suspected or proven HCM consider early referral to a paediatric cardiology department for any adolescent with left ventricular hypertrophy understand family screening guidelines for HCM.
HCM is a complex cardiac disease with marked heterogeneity. Management strategies should be individually tailored, including avoidance of competitive sports, but encouragement of lower intensity physical activities. Adolescents with HCM should be regularly reviewed in a paediatric cardiology department; however, general practitioners should understand the diagnostic and treatment principles for this condition.
肥厚型心肌病(HCM)是最常见的遗传性心脏病,通常在青春期发病。青少年可能在偶然情况下、症状检查后或家族筛查期间被诊断出。早期识别可预防心源性猝死。患有HCM的青少年的一级亲属应接受该疾病的筛查。
本文的目的是回顾HCM的遗传基础,并讨论青少年HCM的临床表现,以便全科医生:对怀疑或确诊为HCM的青少年进行检查时增强信心;对于任何有左心室肥厚的青少年,考虑尽早转诊至儿科心脏病科;了解HCM的家族筛查指南。
HCM是一种具有显著异质性的复杂心脏病。管理策略应因人而异,包括避免竞技性运动,但鼓励进行强度较低的体育活动。患有HCM的青少年应定期在儿科心脏病科接受复查;然而,全科医生应了解该疾病的诊断和治疗原则。