Familial atrioventricular septal defect

MedGen UID:: 1813070
•Concept ID:: CN029142
•: Disease or Syndrome

Synonym:	AVC DEFECT

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	CRELD1, NR2F2, GATA6, GATA4

Monarch Initiative:	MONDO:0020290
OMIM® Phenotypic series:	PS606215
Orphanet:	ORPHA98722

Definition

A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Familial atrioventricular septal defect

Professional guidelines

PubMed

Impact of prenatal diagnosis and anatomical subtype on outcome in double outlet right ventricle.

Lagopoulos ME, Manlhiot C, McCrindle BW, Jaeggi ET, Friedberg MK, Nield LE
Am Heart J 2010 Oct;160(4):692-700. doi: 10.1016/j.ahj.2010.07.009. PMID: 20934564

Pregnancy termination following prenatal diagnosis of serious heart disease in the fetus.

Menahem S, Grimwade J
Early Hum Dev 2003 Aug;73(1-2):71-8. doi: 10.1016/s0378-3782(03)00078-1. PMID: 12932895

Cardiac ultrasonography in structural abnormalities and arrhythmias. Recognition and treatment.

Brook MM, Silverman NH, Villegas M
West J Med 1993 Sep;159(3):286-300. PMID: 8236970 Free PMC Article

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