CHROMOSOME-ABNORMALITIES IN CONGENITAL HEART-DISEASE

Refinements in cytogenetic techniques have promoted progress in unders tanding the role that chromosome abnormalities play in the cause of co ngenital heart disease. To determine if mutations at specific loci cau se congenital heart disease, irrespective of the presence of other def ects, and to estimate the prevalence of chromosome abnormalities in se lected conotruncal cardiac defects, we reviewed retrospectively cytoge netic and clinical databases at St, Louis Children's Hospital, Patient s with known 7q11.23 deletion (Williams syndrome), Ullrich-Turner synd rome (UTS), and most autosomal trisomies were excluded from this analy sis, Two groups of patients were studied. Over a 6.5-year period, 57 p atients with chromosomal abnormalities and congenital heart disease we re identified. Of these, 37 had 22q11 deletions; 5 had abnormalities o f 8p; and 15 had several other chromosome abnormalities, The prevalenc e of chromosome abnormalities in selected conotruncal or aortic arch d efects was estimated by analysis of a subgroup of patients from a rece nt 22-month period. Chromosome abnormalities were present in 12% of pa tients with tetralogy of Fallot, 26% in tetralogy of Fallot/pulmonary atresia, 44% in interrupted aortic arch, 12% in truncus arteriosus, 5% in double outlet Fight ventricle, and 60% in absent pulmonary valve. We conclude that chromosome analysis should be considered in patients with certain cardiac defects, Specifically, fluorescent in situ hybrid ization (FISH) analysis of 22q11 is indicated in patients with conotru ncal defects or interrupted aortic arch. High resolution analysis shou ld include careful evaluation of the 8p region in patients with either conotruncal or endocardial cushion defects. (C) 1997 Wiley-Liss, Inc.