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: Autosomal recessive; CACP syndrome; Familial constrictive pericarditis; Joint deformities.

Fig. 1

Photograph demonstrating (A) bilateral camptodactyly in upper limbs of both the brothers; (B) flexion deformity in toes. Radiographs demonstrating (C) bilateral fifth finger camptodactyly; (D) bilateral hip joint showing short femur neck, flattened acetabulae, and nonerosive arthropathy without periarticular osteopenia and (E) chest radiograph showing right pleural effusion. Pressure tracing showing (F) ventricular interdependence in simultaneous right and left ventricular tracing and (G) prominent x and y descent in jugular venous pressure tracing. Microphotograph of knee synovial biopsy under high magnification (H) demonstrating noninflammatory arthritis and synovial hyperplasia.

Fig. 2

Pedigree chart built using partial electropherograms that demonstrate the DNA sequence of the exon 6 of the PRG4 (proteoglycan4) gene. It demonstrates the presence of heterozygous dinucleotides AG deletion mutation (underlined in red with black arrows below in upper panel) in both parents. The presence of dinucleotides AG in the sister has also been similarly highlighted. The absence of dinucleotides AG at the 884_885 position is clearly demonstrated (blue arrows in lower panel). This suggests homozygous nucleotides AG deletion mutation in both the brothers.