OMIA 001041 : Ventricular septal defect

Possible human homologues (MIM numbers): 614429 , 614431 , 614432

Cross-species summary: A congenital heart defect characterised by persistent patency (open-ness) of the ventricular septum, permitting flow of blood directly between ventricles, bypassing the pulmonary circulation and resulting in various degrees of cyanosis (blue discolouration of the skin) due to oxygen deficiency. Clinical signs include systolic murmur and a palpable thrill on both sides of the chest, dyspnoea and poor tolerance of exercise.

Species in which this phene is found:
chicken (Gallus gallus)
dog (Canis lupus familiaris)
domestic cat (Felis catus)
horse (Equus caballus)
pig (Sus scrofa)
cattle (Bos taurus)
sheep (Ovis aries)
rabbit (Oryctolagus cuniculus)
alpaca (Vicugna pacos)

Edit History


  • Created by Frank Nicholas on 16 Sep 2005
  • Changed by Frank Nicholas on 12 Dec 2015