VARIATION IN SEVERITY OF CARDIAC DISEASE IN HOLT-ORAM SYNDROME

We describe a family with Holt-Oram syndrome (HOS) with variable hand and cardiac manifestations. One affected relative had complex congenit al malformations of the heart consisting of an endocardial cushion def ect and hypoplasia of the left ventricle. The literature from 1974 to 1995 is reviewed. Atrial septal defect is the most common cardiac abno rmality (60.3% of 189 cases) occurring singly or in combination with o ther malformations. Thirty-three individuals (17.5% of literature case s) have more complex congenital malformations of the heart requiring c omplicated medical management and extensive cardiac surgery. Many gene tic reference sources of HOS indicate that single or less severe cardi ac malformations are expected in this disorder. It is important to pro vide more information about the occurrence and spectrum of severity of malformations of the heart to individuals and families where HOS is p resent. (C) 1996 Wiley-Liss, Inc.