Prajapati Kesar, Pathak Jaya, Sailor Vikranti, Adrejiya Parth
Medicine, Baroda Medical College, Vadodara, Gujarat, India
Medicine, Baroda Medical College, Vadodara, Gujarat, India.
BMJ Case Rep. 2021 Mar 24;14(3):e239663. doi: 10.1136/bcr-2020-239663.
Ellis-van Creveld (EVC) syndrome is a relatively rare chondroectodermal dysplasia considered mainly as a generalised disorder of the maturation of endochondral ossification. Congenital heart disease occurs in approximately half of the patients with EVC syndrome, 60% of which is a common atrium. Common atrium is a rare variety of interatrial communication characterised by absence or virtual absence of the atrial septum. Patients with this syndrome rarely survive to an old age. We report a case of EVC who presented for the first time at 60 years of age, as survival to an advanced age is exceptional in case of EVC.
埃利斯-范克里维尔德(EVC)综合征是一种相对罕见的软骨外胚层发育不良,主要被认为是软骨内成骨成熟的全身性疾病。约半数EVC综合征患者会发生先天性心脏病,其中60%为共同心房。共同心房是一种罕见的心房间交通类型,其特征是房间隔缺失或几乎缺失。该综合征患者很少能活到老年。我们报告一例60岁首次就诊的EVC综合征病例,因为EVC综合征患者活到高龄的情况极为罕见。