Literature DB >> 2625625

[Truncus arteriosus: an autosomal recessive disease?].

B le Marec1, S Odent, C Almange, H Journel, M Roussey, G Defawe.   

Abstract

Truncus arteriosus is an uncommon heart malformation; it is not reported that recurrence is high; nevertheless authors report three families with two or more cases; in the third there is a very high consanguinity (two uncle-niece marriages). The authors compare the situation with hypoplastic left heart and think that some cases of truncus arteriosus would have an autosomal recessive inheritance. That is an another argument for suggesting an echocardiographic survey of the pregnancies in these families.

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Year:  1989        PMID: 2625625

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  2 in total

1.  The keeshond defect in cardiac conotruncal development is oligogenic.

Authors:  Petra Werner; Michael G Raducha; Ulana Prociuk; Elaine A Ostrander; Richard S Spielman; Ewen F Kirkness; Donald F Patterson; Paula S Henthorn
Journal:  Hum Genet       Date:  2005-02-12       Impact factor: 4.132

2.  Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

  2 in total

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