In other species: chicken , turkey , dog , domestic cat , horse , pig , taurine cattle , sheep , rabbit , alpaca

Categories: Cardiovascular system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 614429 (trait) , 614431 (trait) , 614432 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing