Tetralogy of Fallot with pulmonary atresia in siblings

Tetralogy of Fallot with pulmonary atresia in siblings

We present two sisters with tetralogy of Fallot and pulmonary valve atresia. Both had identical anatomical findings as seen at cardiac catheterization and angiography and verified operatively, with, in particular, identical bronchial circulation and pulmonary valve structure. The parents are first c...

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Veröffentlicht in:American journal of medical genetics 1985-05, Vol.21 (1), p.119-122
Hauptverfasser: Der Kaloustian, Vazken M., Ratl, Habib, Malouf, Joe, Hatem, Joe, Slim, Michel, Tomeh, Antoine, Khouri, Joseph, Kutayli, Farid, Opitz, John M., Reynolds, James F.
Format: Artikel
Sprache:eng
Schlagworte:
autosomal recessive inheritance
Biological and medical sciences
Cardiology. Vascular system
Child
Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava
Consanguinity
Female
Genes, Recessive
Heart
Humans
Male
Medical sciences
parental consanguinity
pulmonary atresia
Pulmonary Valve - abnormalities
tetralogy of Fallot
Tetralogy of Fallot - genetics
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Zusammenfassung:We present two sisters with tetralogy of Fallot and pulmonary valve atresia. Both had identical anatomical findings as seen at cardiac catheterization and angiography and verified operatively, with, in particular, identical bronchial circulation and pulmonary valve structure. The parents are first cousins and there is no history of other affected relatives. We suggest that this is a specific, recessively inherited type of tetralogy of Fallot.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320210117