New Genetic Variant in the <i>MYH7</i> Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family-Reference-Cited by-同舟云学术

New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family

Published:2023-12 Issue:6 Volume:16 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Polyakova Elizaveta¹²,van Gils Janine M.²^ORCID,Stöger J. Lauran³,Kiès Philippine¹⁴,Egorova Anastasia D.¹⁴^ORCID,Koopmann Tamara T.⁵,van Dijk Tessa⁵^ORCID,DeRuiter Marco C.¹²^ORCID,Barge-Schaapveld Daniela Q.C.M.⁵,Jongbloed Monique R.M.¹²⁴

Affiliation:

1. Center for Congenital Heart Disease Amsterdam-Leiden (E.P., P.K., A.D.E., M.C.D., M.R.M.J.), Leiden University Medical Center, the Netherlands.

2. Department of Anatomy and Embryology (E.P., J.M.v.G., M.C.D., M.R.M.J.), Leiden University Medical Center, the Netherlands.

3. Department of Radiology (J.L.S.), Leiden University Medical Center, the Netherlands.

4. Department of Cardiology (P.K., A.D.E., M.R.M.J.), Leiden University Medical Center, the Netherlands.

5. Department of clinical Genetics (T.T.K., T.v.D., D.Q.C.M.B.-S.), Leiden University Medical Center, the Netherlands.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference6 articles.

1. A Fetus with Hypertrophic Cardiomyopathy, Restrictive, and Single-Ventricle Physiology, and a β-Myosin Heavy Chain Mutation

2. Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies

3. The Influence of Respiration on Blood Flow in the Fontan Circulation: Insights for Imaging-Based Clinical Evaluation of the Total Cavopulmonary Connection

4. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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