Occurrence of cardiac malformations in relatives of children with transposition of the great arteries

Troy A. Becker, Roberta Van Amber, James H. Moller, Mary Ella M. Pierpont

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15 Scopus citations

Abstract

Transposition of the great arteries (TGA) is the most common cyanotic cardiac malformation, representing 5-7% of all cardiac malformations. Previous estimates of the frequency of cardiac malformations in sibs of probands range from 0-1.7%. This study ascertained the frequency of congenital cardiac malformations in relatives of 271 probands with TGA, who were grouped according to the type of TGA present. These include dextro (d- TGA), levo (l-TGA), complex TGA, and asplenia with TGA. In the d-TGA cases there were 369 sibs, one of whom had a cardiac malformation (0.27%). There were 50 sibs in the 1-TGA group, with one sib having a cardiac malformation (2.00%). Cardiac malformations were found in 2 of 143 (1.40%) sibs of the complex TGA index cases, and 1 of 50 (2.00%) sibs in the asplenia with TGA group. The overall recurrence risk of cardiac malformations in sibs of TGA probands was 0.82%. Cardiac malformations in parents of probands were found in 0.29% of d-TGA, 0% of 1-TGA, 1.54% of complex TGA, and 0% of asplenia with TGA, giving an overall parental occurrence of 0.55%. This is the first study to provide information on the different types of TGA in evaluating sib occurrence. It provides necessary genetic counseling information for families of probands with TGA.

Original languageEnglish (US)
Pages (from-to)28-32
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume66
Issue number1
DOIs
StatePublished - Dec 2 1996

Keywords

  • asplenia
  • familial congenital heart malformations
  • transposition of great arteries

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