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The purpose of our study was to determine the incidence and type of malformations associated with tetralogy of Fallot (TF). Among 133 patients followed up for 12 years, 30 who had either complete TF (n = 26) or pulmonary atresia and interventricular septal defect (n = 4) presented with another, extracardiac malformation. These malformations were part of a malformative syndrome in 21/30 patients, including 4 trisomies 21, 6 embryofoetopathies unquestionably (antiepileptics n = 2, alcohol n = 1) or possibly (hormonal treatment n = 1) of environmental origin, 6 branchial arch pathologies and 5 miscellaneous syndromes. The extracardiac malformation was isolated in the remaining 9 patients, including 5 cases of skeletal anomaly and one case each of omphalocele and microcephaly. Altogether, in these 30 patients skeletal and neurosensory anomalies were largely predominant. Skeletal anomalies involved the vertebral column in 8 cases (cervical 3, thoracic 4, lumbar 1) and the limbs in 5 cases (2 of which were phocomelias). The 4 patients with pulmonary atresia and interventricular septal defect also presented with an early embryopathy: Shprinzen's velocardiofacial syndrome (n = 2), DiGeorge syndrome (n = 1) and situs inversus (n = 1). We compared TF with other congenital heart diseases in our population and found that the incidence of associated malformations was about average. The various associations are discussed. In genetic syndromes, trisomy 21 predominates and TF is less frequent than atrioventricular canal. In syndromes of environmental origin, the role of antiepileptic drugs (chiefly phenytoin and trimethadione) is well-known, alcohol is less often responsible and the TF-phocomelia association is suggestive of progesterone. In branchial arch syndromes, TF is the usual cardiopathy.(ABSTRACT TRUNCATED AT 250 WORDS)
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