PRKAG2 基因突变的两个家族中心脏和骨骼受累的病例系列
A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations.
作者信息
Sri Anita, Daubeney Piers, Prasad Sanjay, Baksi John, Kinali Maria, Voges Inga
机构信息
Imperial College London, South Kensington Campus, London SW7 2AZ, UK.
Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, London SW3 6NP, UK.
出版信息
Case Rep Pediatr. 2019 Mar 26;2019:7640140. doi: 10.1155/2019/7640140. eCollection 2019.
BACKGROUND
PRKAG2 is a rare autosomal dominant syndrome that mainly presents with hypertrophic cardiomyopathy, ventricular preexcitation, and conduction abnormalities. This case report demonstrates that the PRKAG2 mutation presents with various phenotypes already in pediatric patients.
CASE SUMMARY
We describe the clinical and investigative findings in two families with a PRKAG2 mutation from the different variants in the gene on chromosome 7q36.1, emphasising that the variability of phenotypes and that presentation in childhood is common. Furthermore, we highlight that skeletal myopathy and hypertrophic cardiomyopathy are significant debilitating characteristics of the PRKAG2 mutation.
CONCLUSION
In our report of adult and pediatric patients, early presentation in childhood with hypertrophic cardiomyopathy and skeletal muscle involvement was common, demonstrating the challenges of the clinical management of PRKAG2 mutations.
背景
PRKAG2是一种罕见的常染色体显性综合征，主要表现为肥厚型心肌病、心室预激和传导异常。本病例报告表明，PRKAG2突变在儿科患者中已呈现出多种表型。
病例摘要
我们描述了两个来自7号染色体q36.1上该基因突变不同变体的携带PRKAG2突变的家庭的临床和检查结果，强调表型的变异性以及在儿童期出现这种情况很常见。此外，我们强调骨骼肌病和肥厚型心肌病是PRKAG2突变的显著致残特征。
结论
在我们对成人和儿科患者的报告中，儿童期早期出现肥厚型心肌病和骨骼肌受累的情况很常见，这表明PRKAG2突变的临床管理具有挑战性。
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