Brothers with constrictive pericarditis – A novel mutation in a rare disease

Autor:	Devendra V. Patil, Milind S. Phadke, Jivtesh S. Pahwa, Ashwin B. Dalal
Jazyk:	angličtina
Rok vydání:	2016
Předmět:	Familial constrictive pericarditis Joint deformities Autosomal recessive CACP syndrome Surgery RD1-811 Diseases of the circulatory (Cardiovascular) system RC666-701
Zdroj:	Indian Heart Journal, Vol 68, Iss S2, Pp S284-S287 (2016)
Druh dokumentu:	article
ISSN:	0019-4832
DOI:	10.1016/j.ihj.2016.03.020
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/1f9c48bf8d754f8e81d3b10db925c63f Zobrazit plný text záznamu View record in DOAJ