Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

被引:109
作者
Politano, L
Nigro, V
Passamano, L
Petretta, V
Comi, LI
Papparella, S
Nigro, G
Rambaldi, PF
Raia, P
Pini, A
Mora, M
Giugliano, MAM
Esposito, MG
Nigro, G
机构
[1] Univ Naples 2, Policlin 1, Sez Cardiomiol & Genet Med, Dipartimento Internist Clin & Sperimentale, I-80138 Naples, Italy
[2] Univ Naples 2, Ist Patol Gen, I-80138 Naples, Italy
[3] Univ Naples Federico II, Dipartimentale Patol Vet, Naples, Italy
[4] Univ Naples 2, Ist Cardiol, I-80138 Naples, Italy
[5] Univ Naples 2, Ist Sci Radiol Med Nucl, I-80138 Naples, Italy
[6] Osped Maggiore Bologna, Unita Operat Neuropsichiat Infantile, Bologna, Italy
[7] Ist Neurol Besta, Milan, Italy
关键词
sarcoglycanopathy; cardiac involvement; respiratory involvement;
D O I
10.1016/S0960-8966(00)00174-7
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called alpha-, beta-, gamma-, delta- and epsilon -sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete deficiency in delta -sarcoglycan is the cause of the Syrian hamster BIO.14 cardiomyopathy, we studied cardiac and respiratory involvement in 20 patients with sarcoglycanopathies by clinical, electrocardiographic, echocardiographic, scintigraphic and spirometric assessments. A normal heart function was found in 31.3% of all patients; a preclinical cardiomyopathy in 43.7%: an arrhythmogenic cardiomyopathy in 6.3% and initial signs of dilated cardiomyopathy in 18.7%. In one patient the data were examined retrospectively. No correlation was found between cardiac and skeletal muscle involvement. With reference to the type of sarcoglycanopathy, signs of hypoxic myocardial damage occurred in beta-, gamma- and delta -sarcoglycanopathies, while initial signs of a dilated cardiomyopathy in gamma- and delta -sarcoglycanopathies were found. A normal respiratory function was observed in 23.5% of all patients, a mild impairment in 35.4%, a moderate impairment in 29.4%, and a severe impairment in 11.7%. (C) 2001 Elsevier Science B.V, All rights reserved.
引用
收藏
页码:178 / 185
页数:8
相关论文
共 38 条
[1]  
AZIBI K, 1993, HUM MOL GENET, V2, P1423
[2]   LINKAGE OF TUNISIAN AUTOSOMAL RECESSIVE DUCHENNE-LIKE MUSCULAR-DYSTROPHY TO THE PERICENTROMERIC REGION OF CHROMOSOME 13Q [J].
BENOTHMANE, K ;
BENHAMIDA, M ;
PERICAKVANCE, MA ;
BENHAMIDA, C ;
BLEL, S ;
CARTER, SC ;
BOWCOCK, AM ;
PETRUKHIN, K ;
GILLIAM, TC ;
ROSES, AD ;
HENTATI, F ;
VANCE, JM .
NATURE GENETICS, 1992, 2 (04) :315-317
[3]   Genomic screening for beta-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E) [J].
Bonnemann, CG ;
PassosBueno, MR ;
McNally, EM ;
Vainzof, M ;
Moreira, ED ;
Marie, SK ;
Pavanello, RCM ;
Noguchi, S ;
Ozawa, E ;
Zatz, M ;
Kunkel, LM .
HUMAN MOLECULAR GENETICS, 1996, 5 (12) :1953-1961
[4]   BETA-SARCOGLYCAN (A3B) MUTATIONS CAUSE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH LOSS OF THE SARCOGLYCAN COMPLEX [J].
BONNEMANN, CG ;
MODI, R ;
NOGUCHI, S ;
MIZUNO, Y ;
YOSHIDA, M ;
GUSSONI, E ;
MCNALLY, EM ;
DUGGAN, DJ ;
ANGELINI, C ;
HOFFMAN, EP ;
OZAWA, E ;
KUNKEL, LM .
NATURE GENETICS, 1995, 11 (03) :266-273
[6]   Mutations in the sarcoglycan genes in patients with myopathy [J].
Duggan, DJ ;
Gorospe, JR ;
Fanin, M ;
Hoffman, EP ;
Angelini, C ;
Pegoraro, E ;
Noguchi, S ;
Ozawa, E ;
Pendlebury, W ;
Waclawik, AJ ;
Duenas, DA ;
HausmanowaPetrusewicz, I ;
Fidzianska, A ;
Bean, SC ;
Haller, JS ;
Bodensteiner, J ;
Greco, CM ;
Pestronk, A ;
Berardinelli, A ;
Gelinas, DF ;
Abram, H ;
Kunel, RW .
NEW ENGLAND JOURNAL OF MEDICINE, 1997, 336 (09) :618-624
[7]   Brief report: Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy [J].
Fadic, R ;
Sunada, Y ;
Waclawik, AJ ;
Buck, S ;
Lewandoski, PJ ;
Campbell, KP ;
Lotz, BP .
NEW ENGLAND JOURNAL OF MEDICINE, 1996, 334 (06) :362-366
[8]  
Gnecchi-Ruscone T, 1999, MUSCLE NERVE, V22, P1549, DOI 10.1002/(SICI)1097-4598(199911)22:11<1549::AID-MUS10>3.0.CO
[9]  
2-A
[10]   A ROLE FOR MAST-CELLS IN THE PROGRESSION OF DUCHENNE MUSCULAR-DYSTROPHY - CORRELATIONS IN DYSTROPHIN-DEFICIENT HUMANS, DOGS, AND MICE [J].
GOROSPE, JRM ;
THARP, MD ;
HINCKLEY, J ;
KORNEGAY, JN ;
HOFFMAN, EP .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1994, 122 (01) :44-56