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Familial atrioventricular septal defect

MedGen UID:
Concept ID:
Disease or Syndrome
Related genes: CRELD1, NR2F2, GATA6, GATA4
Monarch Initiative: MONDO:0020290
OMIM® Phenotypic series: PS606215
Orphanet: ORPHA98722


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]

Professional guidelines


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
Menahem S, Grimwade J
Early Hum Dev 2003 Aug;73(1-2):71-8. doi: 10.1016/s0378-3782(03)00078-1. PMID: 12932895
Brook MM, Silverman NH, Villegas M
West J Med 1993 Sep;159(3):286-300. PMID: 8236970Free PMC Article

Recent clinical studies

Clinical prediction guides

Kumar A, Williams CA, Victorica BE
Br Heart J 1994 Jan;71(1):79-81. doi: 10.1136/hrt.71.1.79. PMID: 8297702Free PMC Article

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