title: 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.
authors.affiliation: Resident, KEMH - Seth GS medical College and KEM Hospital, Parel, Mumbai, India. Electronic address: devendrapatil161185@gmail.com.
authors.forename: Devendra V
authors.initials: DV
authors.lastname: Patil
authors.affiliation: Assistant Professor, KEMH - Seth GS medical College and KEM Hospital, Parel, Mumbai, India.
authors.forename: Milind S
authors.initials: MS
authors.lastname: Phadke
authors.affiliation: Resident, KEMH - Seth GS medical College and KEM Hospital, Parel, Mumbai, India.
authors.forename: Jivtesh S
authors.initials: JS
authors.lastname: Pahwa
authors.affiliation: Professor and Head, CDFD - Centre for DNA Fingerprinting and Diagnostics, Nampally, Hyderabad, India.
authors.forename: Ashwin B
authors.initials: AB
authors.lastname: Dalal
mesh_terms: D000293:Adolescent; D001177:Arthropathy, Neurogenic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006328:Cardiac Catheterization; D002648:Child; D060905:Coxa Vara / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004452:Echocardiography; D005820:Genetic Testing; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010494:Pericarditis, Constrictive / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D011509:Proteoglycans / Q000235:genetics* / Q000378:metabolism; D035583:Rare Diseases; D035781:Siblings; D013585:Synovitis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D000099158:Proteoglycan 4
chemical_list: D004247:DNA; D011509:Proteoglycans; C419197:PRG4 protein, human; D000099158:Proteoglycan 4
keywords: Autosomal recessive; CACP syndrome; Familial constrictive pericarditis; Joint deformities