Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
Indian J Pediatr. 2019 Mar;86(3):296-298. doi: 10.1007/s12098-018-2807-9. Epub 2018 Nov 28.
Cardiomyopathy is an etiologically heterogeneous condition, and non-syndromic as well as syndromic genetic causes are identified in a significant proportion of cases without a known acquired cause. The present report describes a 2-mo-old boy who presented initially with a referral diagnosis of isolated dilated cardiomyopathy, without any associated dysmorphism or malformations, and with history of similar cardiac disease and early infantile death in an elder male sibling. Next generation sequencing (NGS) based multigene panel testing of the cardiomyopathy-associated genes was done which revealed the diagnosis of Alström syndrome, based on which appropriate management and surveillance could be planned for the child and accurate genetic counseling could be provided to the parents. This report reiterates the fact that genetic testing for cardiomyopathy without an obvious acquired cause helps in identification of the underlying etiology, appropriate management, early diagnosis of syndromic forms, and monitoring and pre-symptomatic intervention for associated extracardiac complications.
心肌病是一种病因异质性疾病，在没有已知获得性病因的情况下，相当一部分病例存在非综合征型和综合征型遗传原因。本报告描述了一名 2 个月大的男婴，最初被诊断为孤立性扩张型心肌病，无任何相关的畸形或畸形，且有类似的心脏病和年长男性同胞的早期婴儿死亡史。对心肌病相关基因进行了基于下一代测序（NGS）的多基因panel 检测，根据该检测结果诊断为 Alström 综合征，据此可以为患儿制定相应的管理和监测方案，并为患儿父母提供准确的遗传咨询。本报告再次强调，对无明显获得性病因的心肌病进行基因检测有助于确定潜在病因、进行适当的管理、早期诊断综合征形式，以及监测和进行症状前干预相关的心脏外并发症。
