Literature DB >> 4003436

Tetralogy of Fallot with pulmonary atresia in siblings.

V M Der Kaloustian, H Ratl, J Malouf, J Hatem, M Slim, A Tomeh, J Khouri, F Kutayli.   

Abstract

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.

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Year:  1985        PMID: 4003436     DOI: 10.1002/ajmg.1320210117

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

Review 1.  Tetralogy of Fallot in three siblings: a familial study and review of the literature.

Authors:  G Pacileo; N N Musewe; R Calabrò
Journal:  Eur J Pediatr       Date:  1992-10       Impact factor: 3.183

2.  Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

Authors:  Robert C Bauer; Ayanna O Laney; Rosemarie Smith; Jennifer Gerfen; Jennifer J D Morrissette; Stacy Woyciechowski; Jennifer Garbarini; Kathleen M Loomes; Ian D Krantz; Zsolt Urban; Bruce D Gelb; Elizabeth Goldmuntz; Nancy B Spinner
Journal:  Hum Mutat       Date:  2010-05       Impact factor: 4.878

  2 in total

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