Literature DB >> 1887837

Father and two children with total anomalous pulmonary venous connection.

B D Raisher1, S B Dowton, J W Grant.   

Abstract

Total anomalous pulmonary venous connection (TAPVC) is a rare form of cyanotic congenital heart disease which, without surgical treatment, has a high mortality in the first year of life. Reports of familial recurrence of TAPVC have involved sibs, first cousins, and twins. This is the first report of TAPVC in a father and his 2 children. The implications for genetic counseling to families with this anomaly and individuals reaching adulthood after repair of TAPVC are considered.

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Year:  1991        PMID: 1887837     DOI: 10.1002/ajmg.1320400122

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


  2 in total

1.  A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12.

Authors:  S Bleyl; L Nelson; S J Odelberg; H D Ruttenberg; B Otterud; M Leppert; K Ward
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

2.  Total anomalous pulmonary venous return in siblings.

Authors:  Ho-Sung Kim; Kumi Jeong; Hwa-Jin Cho; Woo-Yeon Choi; Young Earl Choi; Jae Sook Ma; Young Kuk Cho
Journal:  J Cardiovasc Ultrasound       Date:  2014-12-26
  2 in total

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