Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
RESTRICTIVE CARDIOMYOPATHY, ATRIOVENTRICULAR-BLOCK AND MILD TO SUBCLINICAL MYOPATHY IN PATIENTS WITH DESMIN-IMMUNOREACTIVE MATERIAL DEPOSITS
Autore:
ARBUSTINI E; MORBINI P; GRASSO M; FASANI R; VERGA L; BELLINI O; DALBELLO B; CAMPANA C; PICCOLO G; FEBO O; OPASICH C; GAVAZZI A; FERRANS VJ;
Indirizzi:
LAB PATOL CELLULARE & MOL,IST ANAT PATOL,DIPARTIMENTO PATOL UMANA & EREDITARIA,SEZ ANAT PATOL I-27100 PAVIA ITALY POLICLIN SAN MATTEO,DEPT PATHOL ANAT I-27100 PAVIA ITALY POLICLIN SAN MATTEO,DEPT CARDIOL,IRCCS I-27100 PAVIA ITALY FDN IST NEUROL CASIMIRO MONDINO PAVIA ITALY FDN SALVATORE MAUGERI,DEPT CARDIOL,CLIN LAVORO & RIABILITAZ,CTR MED MONTESCANO PAVIA ITALY NHLBI,PATHOL SECT,NIH BETHESDA MD 20892
Titolo Testata:
Journal of the American College of Cardiology
fascicolo: 3, volume: 31, anno: 1998,
pagine: 645 - 653
SICI:
0735-1097(1998)31:3<645:RCAAMT>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
UNUSUAL FAMILIAL CARDIOMYOPATHY; HEREDITARY DISTAL MYOPATHY; INTERMEDIATE FILAMENTS; SKELETAL-MUSCLE; IMMUNOLOGICAL CHARACTERIZATION; ACCUMULATION; STORAGE; PROTEINS; CELLS; PHOSPHORYLATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
43
Recensione:
Indirizzi per estratti:
Citazione:
E. Arbustini et al., "RESTRICTIVE CARDIOMYOPATHY, ATRIOVENTRICULAR-BLOCK AND MILD TO SUBCLINICAL MYOPATHY IN PATIENTS WITH DESMIN-IMMUNOREACTIVE MATERIAL DEPOSITS", Journal of the American College of Cardiology, 31(3), 1998, pp. 645-653

Abstract

Objectives. We present clinical data and heart and skeletal muscle biopsy findings from a series of patients with ultrastructural accumulations of granulofilamentous material identified as desmin. Background. Desmin cardiomyopathy is a poorly understood disease characterized by abnormal desmin deposits in cardiac and skeletal muscle. Methods. Clinical evaluation, endomyocardial and skeletal muscle biopsy, light and electron microscopy and immunohistochemistry were used to establish the presence of desmin cardiomyopathy. Results. Six hundred thirty-one patients with primary cardiomyopathy underwent endomyocardial biopsy (EMB). Ultrastructural accumulations of granulofilamentous material werefound in 5 of 12 biopsy samples from patients with idiopathic restrictive cardiomyopathy and demonstrated specific immunoreactivity with anti-desmin antibodies by immunoelectron microscopy. Immunohistochemicalfindings on light microscopy were nonspecific because of a diffuse intracellular distribution of desmin. All five patients had atrioventricular (AV) block and mild or subclinical myopathy. Granulofilamentous material was present in skeletal muscle biopsy samples in all five patients, and unlike the heart biopsy samples, light microscopic immunohistochemical analysis demonstrated characteristic subsarcolemmal desmin deposits. Two patients were first degree relatives (mother and son); another son with first-degree AV block but without myopathy or cardiomyopathy demonstrated similar light and ultrastructural findings in skeletal muscle. Electrophoretic studies demonstrated two isoforms of desmin-one of normal and another of lower molecular weight-in cardiac and skeletal muscle of the familial cases. Conclusions. Desmin cardiomyopathy must be considered in the differential diagnosis of restrictive cardiomyopathy, especially in patients with AV block and myopathy. Diagnosis depends on ultrastructural examination of EMB samples or light microscopic immunohistochemical studies of skeletal muscle biopsy samples. Familial desminopathy may manifest as subclinical disease and may be associated with abnormal isoforms of desmin. (C) 1998 by the American College of Cardiology.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 20:16:42