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.

Keywords

• Familial constrictive pericarditis
• Joint deformities
• Autosomal recessive
• CACP syndrome