Ventricular Septal Defect 1

Alternative Names

  • VSD1

Associated Genes

GATA-Binding Protein 4
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WHO-ICD-10 version:2010

Diseases of the circulatory system

Other forms of heart disease

OMIM Number

614429

Mode of Inheritance

Autosomal dominant

Gene Map Locus

8p23.1

Description

Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614429.1LebanonUnknown Ventricular septal defectNM_001308093.3:c.1132A>GHeterozygousAutosomal, DominantFardoun et al. 2019
614429.2LebanonUnknown Ventricular septal defectNM_001308093.3:c.1132A>G, NM_012259.3:c.685G>AHeterozygousAutosomal, DominantFardoun et al. 2019
614429.3LebanonUnknown Ventricular septal defectNM_012259.3:c.486_564delHeterozygousAutosomal, DominantFardoun et al. 2019
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