title: Isolated cardiac sarcoidosis associated with the expression of a splice variant coding for a truncated BTNL2 protein.
abstract: A 33-year-old woman presented with clinical signs of heart failure and previously diagnosed complete atrioventricular block. DNA sequencing revealed a homozygous point mutation in exon 5 of the btnl2 gene coding for a truncated protein which lacks the membrane-anchoring motif. This single nucleotide polymorphism is known to be a risk factor for sarcoidosis. Indeed, endomyocardial biopsy demonstrated multiple nonnecrotizing granulomas composed of epitheloid cells and moderate numbers of multinucleated giant cells. Because no other organs were affected, isolated cardiac sarcoidosis was diagnosed and treated with corticosteroids. Thus, detection of the disease-associated btln2 allele may help to identify patients with sarcoidosis as the underlying cause of heart failure.
authors: Department of Internal Medicine-Cardiology, Philipps University of Marburg, Marburg, Germany. meyert@med.uni-marburg.de
authors: Thomas
authors: T
authors: Meyer
authors: Jörg
authors: J
authors: Lauschke
authors: Volker
authors: V
authors: Ruppert
authors: Anette
authors: A
authors: Richter
authors: Sabine
authors: S
authors: Pankuweit
authors: Bernhard
authors: B
authors: Maisch
mesh_terms: D000328:Adult; D000071797:Butyrophilins; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology; D015716:Electrocardiography, Ambulatory; D005260:Female; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D009206:Myocardium / Q000473:pathology; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000235:genetics; D012507:Sarcoidosis / Q000235:genetics* / Q000473:pathology; D016171:Torsades de Pointes / Q000175:diagnosis / Q000209:etiology
chemical_list: C408263:BTNL2 protein, human; D000071797:Butyrophilins; D008562:Membrane Glycoproteins; D020033:Protein Isoforms