A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

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 in...

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Veröffentlicht in:JACC. Case reports 2023-05, Vol.14, p.101837, Article 101837
Hauptverfasser: McKinney, Lauren M., Clark, Mariah C., Ellis, Alexander R., Schrier Vergano, Samantha A.
Format: Artikel
Sprache:eng
Schlagworte:
cardiogenetics
Case Report
congenital heart defects
genetic counseling
polyvalvular dysplasia
TAK1-binding protein 2
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Zusammenfassung: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.) [Display omitted]
ISSN:2666-0849
2666-0849
DOI:10.1016/j.jaccas.2023.101837