患有缩窄性心包炎的兄弟——一种罕见疾病中的新突变。
Brothers with constrictive pericarditis - A novel mutation in a rare disease.
作者信息
Patil Devendra V, Phadke Milind S, Pahwa Jivtesh S, Dalal Ashwin B
机构信息
Resident, KEMH - Seth GS medical College and KEM Hospital, Parel, Mumbai, India.
Assistant Professor, KEMH - Seth GS medical College and KEM Hospital, Parel, Mumbai, India.
出版信息
Indian Heart J. 2016 Sep;68 Suppl 2(Suppl 2):S284-S287. doi: 10.1016/j.ihj.2016.03.020. Epub 2016 Apr 15.
Familial constrictive pericarditis is extremely rare. We report a case of two brothers both suffering constrictive pericarditis along with having multiple painless joint deformities. Genetic workup confirmed the clinical diagnosis of camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome CACP syndrome and also revealed a rare mutation in the causative gene.
家族性缩窄性心包炎极为罕见。我们报告一例两兄弟均患有缩窄性心包炎且伴有多处无痛性关节畸形的病例。基因检查证实了临床诊断为屈曲指-关节病-髋内翻-心包炎（CACP）综合征，并且还揭示了致病基因中的一种罕见突变。
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