A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

家族性多瓣膜发育不良的一种遗传病因已确定

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Abstract

This case presents a family with multiple individuals diagnosed with congenital heart disease (CHD) secondary to a novel TAK1-binding protein 2 pathogenic variant. This case advocates the use of cardiovascular genetic testing in individuals with CHD as part of a comprehensive approach to managing infants with CHD. (Level of Difficulty: Advanced.).

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