A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

Lauren M. McKinney, DO; Mariah C. Clark, MS; Alexander R. Ellis, MD, MSc; Samantha A. Schrier Vergano, MD

JACC: Case Reports (May 2023)

A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

Lauren M. McKinney, DO,
Mariah C. Clark, MS,
Alexander R. Ellis, MD, MSc,
Samantha A. Schrier Vergano, MD

Affiliations

Lauren M. McKinney, DO: Eastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA
Mariah C. Clark, MS: Children’s Hospital of the King’s Daughters, Division of Medical Genetics, Norfolk, Virginia, USA
Alexander R. Ellis, MD, MSc: Eastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA; Children’s Hospital of the King’s Daughters, Division of Cardiology, Norfolk, Virginia, USA; Address for correspondence: Dr Alexander R. Ellis, Children’s Hospital of the King’s Daughters, 601 Children’s Lane, Norfolk, Virginia 23507, USA.
Samantha A. Schrier Vergano, MD: Eastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA; Children’s Hospital of the King’s Daughters, Division of Medical Genetics, Norfolk, Virginia, USA

Journal volume & issue: Vol. 14
p. 101837

Abstract

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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.)

Published in JACC: Case Reports

ISSN: 2666-0849 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://www.journals.elsevier.com/jacc-case-reports

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Abstract

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