atrioventricular septal defect 3

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atrioventricular septal defect 32016-11-24T20:49:52+00:00

atrioventricular septal defect 3

GENETICS

An autosomal dominant heart malformation (OMIM:600309) characterised by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form entails underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form—ostium primum atrial septal defect—is characterised by separate atrioventricular valvar orifices despite a common junction

Molecular pathology Defects of GJA1, which encodes a gap junction protein (connexin) thought to play a key role in the synchronised contraction of the heart and in embryonic development, cause atrioventricular septal defect 3.

References http://www.uniprot.org/uniprot/P17302

http://www.omim.org/entry/600309

 

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