Brothers with constrictive pericarditis - A novel mutation in a rare disease.
Ontology highlight
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
ACCESS DATA