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Brothers with constrictive pericarditis - A novel mutation in a rare disease.


ABSTRACT: 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.

SUBMITTER: Patil DV 

PROVIDER: S-EPMC5067734 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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Brothers with constrictive pericarditis - A novel mutation in a rare disease.

Patil Devendra V DV   Phadke Milind S MS   Pahwa Jivtesh S JS   Dalal Ashwin B AB  

Indian heart journal 20160415


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. ...[more]

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