Potocki L, Abuelo D N, Oyer C E
Department of Pathology, Women and Infants' Hospital, Brown University, Providence, Rhode Island, USA.
Am J Med Genet. 1995 Nov 20;59(3):295-9. doi: 10.1002/ajmg.1320590306.
Autopsy records from the Women and Infants' Hospital from January 1974 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 disorders of type II collagen are regarded as causative. These 4 were categorized in the spondyloepiphyseal dysplasia (SED) spectrum of disorders; specifically two patients with hypochondrogenesis and two with spondyloepiphyseal dysplasia congenita were identified. Defects in cardiac septation were noted in the 2 patients with hypochondrogenesis. No cardiovascular abnormalities were present in the remaining cases, which included thanatophoric dysplasia, osteogenesis imperfecta, and asphyxiating thoracic dystrophy. Although cardiovascular malformations have been described in other types of osteochondrodysplasias, e.g., short rib polydactyly syndrome type II and chondroectodermal (Ellis-van Creveld) dysplasia, congenital heart disease has not been described in hypochondrogenesis. Type II collagen, which has been found to be abnormal in some patients with hypochondrogenesis, is considered to have a limited tissue distribution, and has not been detected as yet in human myocardium. The findings presented here suggest that type II collagen may function in human cardiogenesis.
回顾了妇女和婴儿医院1974年1月至1994年1月的尸检记录，以确定存在骨骼发育异常时的心脏畸形情况。在24例致死性胎儿或新生儿骨软骨发育不良病例中，有4例被诊断为II型胶原紊乱被认为是病因。这4例被归类于脊柱骨骺发育不良（SED）谱系疾病；具体来说，确定了2例低软骨生成患者和2例先天性脊柱骨骺发育不良患者。在2例低软骨生成患者中发现了心脏间隔缺损。其余病例包括致死性侏儒症、成骨不全症和窒息性胸廓发育不良，均未出现心血管异常。虽然在其他类型的骨软骨发育不良中曾描述过心血管畸形，例如II型短肋多指综合征和软骨外胚层发育不良（埃利斯-范克里维尔德综合征），但在低软骨生成中尚未描述过先天性心脏病。II型胶原在一些低软骨生成患者中已被发现异常，其组织分布有限，尚未在人类心肌中检测到。此处呈现的研究结果表明，II型胶原可能在人类心脏发生过程中发挥作用。
