CARDIAC MALFORMATION IN 2 INFANTS WITH HYPOCHONDROGENESIS

Autopsy records fr om the Women and Infants' Hospital from January 197 4 through January 1994 were reviewed to identify cardiac malformations in the presence of skeletal dysplasia, Of 24 cases of lethal fetal or neonatal osteochondrodysplasias, 4 were given diagnoses in which diso rders of type II collagen are regarded as causative, These 4 were cate gorized in the spondyloepiphyseal dysplasia (SED) spectrum of disorder s; specifically two patients with hypochondrogenesis and two with spon dyloepiphyseal dysplasia congenita were identified, Defects in cardiac septation were noted in the 2 patients with hypochondrogenesis, No ca rdiovascular abnormalities were present in the remaining cases, which included thanatophoric dysplasia, osteogenesis imperfecta, and asphyxi ating thoracic dystrophy. Although cardiovascular malformations have b een described in other types of osteochondrodysplasias, e.g., short ri b polydactyly syndrome type II and chondroectodermal (Ellis-van Crevel d) dysplasia, congenital heart disease has not been described in hypoc hondrogenesis. Type II collagen, which has been found to be abnormal i n some patients with hypochondrogenesis, is considered to have a limit ed tissue distribution, and has not been detected as yet in human myoc ardium, The findings presented here suggest that type II collagen may function in human cardiogenesis. (C) 1995 Wiley-Liss, Inc.