作者
Sudheer R Gorla, Kishore R Raja, Ashish Garg, Deborah S Barbouth, Paolo G Rusconi
发表日期
2018/12
期刊
Journal of Pediatric Genetics
卷号
7
期号
04
页码范围
180-184
出版商
Georg Thieme Verlag KG
简介
Hypertrophic cardiomyopathy (HCM) is the second most prevalent form of cardiomyopathy in children. The etiology of the HCM is heterogeneous, so is the age of onset of symptoms. The HCM associated with metabolic disorders and genetic syndromes presents early in childhood. There are very few case reports of early-onset infantile HCM secondary to the PRKAG2 gene. Here, we report a case of HCM in a neonate diagnosed prenatally and eventually diagnosed with a missense mutation in the PRKAG2 gene.
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