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Titolo:
Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy -Prevalence, inheritance and characteristics
Autore:
Gavazzi, A; Repetto, A; Scelsi, L; Inserra, C; Laudisa, ML; Campana, C; Specchia, C; Dal Bello, B; Diegoli, M; Tavazzi, L; Arbustini, E;
Indirizzi:
San Matteo Hosp, IRCCS, Pavia, Italy San Matteo Hosp Pavia ItalySan Matteo Hosp, IRCCS, Pavia, Italy Univ Genoa, Dept Publ Hlth, Genoa, Italy Univ Genoa Genoa ItalyUniv Genoa, Dept Publ Hlth, Genoa, Italy
Titolo Testata:
EUROPEAN HEART JOURNAL
fascicolo: 1, volume: 22, anno: 2001,
pagine: 73 - 81
SICI:
0195-668X(200101)22:1<73:EDOFND>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
MYOSIN HEAVY-CHAIN; MUSCULAR-DYSTROPHY; HYPERTROPHIC CARDIOMYOPATHY; CARDIAC TRANSPLANTATION; MITOCHONDRIAL-DNA; HEART-FAILURE; MUTATIONS; CONDUCTION; FREQUENCY; DISEASE;
Keywords:
non-X-linked; evidence-based familial; dilated cardiomyopathy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Arbustini, E Policlin San Matteo, IRCCS, Via Forlanini 16, I-27100 Pavia, Italy Policlin San Matteo Via Forlanini 16 Pavia Italy I-27100 aly
Citazione:
A. Gavazzi et al., "Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy -Prevalence, inheritance and characteristics", EUR HEART J, 22(1), 2001, pp. 73-81

Abstract

Aims To assess the prevalence of familial non-X-linked dilated cardiomyopathy, to diagnose early asymptomatic cases evaluate inheritance and characterize clinical phenotypes. Methods and Results We screened 472 relatives of 104 consecutive patients diagnosed with dilated cardiomyopathy; males with X-linked dilated cardiomyopathy were excluded based on systematic immunohistochemical and molecular analysis. Relatives underwent clinical examination, electrocardiography, echocardiography and serum creatine-phosphokinase determination. Twenty-six index patients (25%) had familial disease: four youths (less than or equal to 20 years) had rapidly progressive outcome and underwent emergency transplantation. In a sib-pair, the onset was with atrioventricular block. Inheritance was autosomal dominant in 15, undetermined in seven (four sib-pairs); mitochondrial DNA pathological mutations were found in four. The screening identified 23 newly diagnosed relatives in the familial group. Transplantation (P=0.04) and atrial fibrillation (P=0.04) were more frequent, and left bundle branch block (P=0.04) less frequent in index patients with familial than in those with non-familial disease. Several nonaffected relatives had instrumental abnormalities potentially useful as pre-clinical markers: their prevalence was similar in both groups. Conclusions The prevalence of familial, non X-linked dilated cardiomyopathy was 25%. The immediate benefits of screening family members of index patients was early diagnosis in unaware symptomless affected relatives. (Eur Heart J 2001; 22: 73-81, doi:10.1053/euhj.2000.2171) (C) 2001 The European Society of Cardiology.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 20:55:40