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Heterotaxia syndrome and autosomal dominant inheritance

1995; Wiley; Volume: 56; Issue: 1 Linguagem: Inglês

10.1002/ajmg.1320560105

1096-8628

Sandrine Alonso, Mary Ella Pierpont, Wolfgang Radtke, José Martinez, Su‐chiung Chen, James W. Grant, Ingo Dähnert, Sylvie Taviaux, Marie‐Catherine Romey, Jacques Demaille, Patrice Bouvagnet,

Connective tissue disorders research

Abstract Previous familial cases of recurrent hetero‐taxia have suggested an autosomal recessive or exceptionally X‐linked or dominant inheritance. Here, we report six families including 18 affected members, consistent with autosomal dominant inheritance. Among these, four families have more than one case of heterotaxia. The other two families have one member with heterotaxia and at least one other affected member with an “isolated” heart malformation, which could be considered as a mild form of heterotaxia. In five families, the disorder is transmitted through two or three generations. In one family, the patients are of the same generation but are linked to each other by obligate carriers. We suggest a rule to classify these families with heart malformations, according to the etiologic factor involved (rule of precocity). This rule might be useful to other disruptions of morphogenetic processes. © 1995 Wiley‐Liss, Inc.