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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
The cardiac phenotype in patients with a CHD7 mutation
Nicole Corsten-Janssen1, Wilhelmina S Kerstjens-Frederikse, Gideon J du Marchie Sarvaas
1Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Circulation. Cardiovascular Genetics
|May 17, 2013
Summary
Mutations in CHD7 cause CHARGE syndrome, leading to various heart defects in 74% of patients. Atrioventricular septal and conotruncal defects are more common in these individuals.
Area of Science:
- Genetics
- Developmental Biology
- Cardiology
Background:
- Loss-of-function mutations in CHD7 are linked to CHARGE syndrome, a condition characterized by multiple congenital anomalies including heart defects.
- While heart defects are common in CHARGE syndrome (70-92%), detailed classification and large cohort studies are limited.
- This study provides a comprehensive analysis of the cardiac phenotype in a large cohort of patients with CHD7 mutations.
Purpose of the Study:
- To describe the detailed cardiac phenotype in a large cohort of patients with CHD7 mutations.
- To investigate the role of CHD7 in cardiac development.
- To compare the spectrum of heart defects in CHD7 mutation patients with nonsyndromic congenital heart defects.
Main Methods:
- Collected data on congenital heart defects in 299 patients with pathogenic CHD7 mutations.
- Detailed cardiac defect information was available for 202 patients.
- Classified heart defects based on embryonic development and compared with 1007 nonsyndromic heart defects from the EUROCAT registry.
Main Results:
- Congenital heart defects were present in 74% (220/299) of patients with CHD7 mutations.
- Atrioventricular septal defects and conotruncal heart defects were significantly over-represented in patients with CHD7 mutations compared to nonsyndromic controls.
- Truncating CHD7 mutations were associated with a higher incidence of heart defects than missense or splice-site mutations.
Conclusions:
- CHD7 plays a critical role in cardiac development, as evidenced by the wide spectrum of heart defects observed in 74% of patients with CHD7 mutations.
- Conotruncal and atrioventricular septal defects are disproportionately common in individuals with CHD7 mutations.
- Further research into CHD7's function in heart development is warranted.
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