FAMILIAL RECURRENCE OF TRACHEOESOPHAGEAL FISTULA AND ASSOCIATED MALFORMATIONS

Tracheoesophageal fistula (TEF) may occur as an isolated malformation or together with other malformations. To determine the recurrence risk of TEF or associated malformations in children and sibs, and to deter mine the frequency of associated malformations in index patients, we r eviewed the Mayo Clinic records of 204 patients with TEF. Also, questi onnaires were sent to patients or relatives. Questions were designed t o determine whether the patient and relatives had TEF and/or related o rgan system (including VACTERL) malformations. The VACTERL association is a disorder characterized by 3 or more of the following: vertebral, anal, cardiac, renal, or radial anomalies, and TEF. One hundred twent y-eight families returned a completed questionnaire, and 140 index pat ients were ascertained based on complete medical records, questionnair e, and/or autopsy. Forty-one (29.3%) of 140 index patients had TEF wit h one other VACTERL malformation, and twenty-four (17.1%) of 140 index patients had TEF with at least two other VACTERL malformations. Of th e 347 sibs of index patients, 5 (1.4%) had one VACTERL malformation ea ch, including 1 sib with esophageal atresia (EA) without TEF. Of the 4 1 children of index patients, 1 (2.4%) had TEF plus two other VACTERL malformations; another had one non-TEF VACTERL malformation. From our study, the largest reported population of TEF patients to date, we con clude that: 1) nearly half (46%) of patients with tracheoesophageal fi stula will exhibit other VACTERL malformations; 2) the recurrence risk for individuals with TEF to have affected children is 23%; and 3) the re is an increased risk to relatives of TEF patients to exhibit other VACTERL malformations. (C) 1996 Wiley-Liss, Inc.