Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy
Autore:
Fujino, N; Shimizu, M; Ino, H; Okeie, K; Yamaguchi, M; Yasuda, T; Kokado, H; Mabuchi, H;
Indirizzi:
Kanazawa Univ, Dept Internal Med 2, Sch Med, Kanazawa, Ishikawa 9208641, Japan Kanazawa Univ Kanazawa Ishikawa Japan 9208641 wa, Ishikawa 9208641, Japan
Titolo Testata:
CLINICAL CARDIOLOGY
fascicolo: 5, volume: 24, anno: 2001,
pagine: 397 - 402
SICI:
0160-9289(200105)24:5<397:CTTAMA>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEAVY-CHAIN GENE; LEFT-VENTRICULAR HYPERTROPHY; MISSENSE MUTATION; CLINICAL MANIFESTATIONS; PROGNOSTIC IMPLICATIONS; ALPHA-TROPOMYOSIN; PATHO-PHYSIOLOGY; DISEASE GENE; I GENE; MYOSIN;
Keywords:
familial hypertrophic cardiomyopathy; cardiac troponin T gene mutation; dilated cardiomyopathy-like features;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Shimizu, M Kanazawa Univ, Dept Internal Med 2, Sch Med, Takara Machi 13-1,Kanazawa, Ishikawa 9208641, Japan Kanazawa Univ Takara Machi 13-1 KanazawaIshikawa Japan 9208641
Citazione:
N. Fujino et al., "Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy", CLIN CARD, 24(5), 2001, pp. 397-402

Abstract

Background: Mutations in the cardiac troponin T gene causing familial hypertrophic cardiomyopathy (HCM) are associated with a very poor prognosis butonly mild hypertrophy. To date, the serial morphologic changes in patientswith HCM linked to cardiac troponin T gene mutations have not been reported. Hypothesis: The aim of this study was to determine the long-term course ofpatients with familial HCM caused by the cardiac troponin T gene mutation,Arg92Trp. Methods: In all, 140 probands with familial HCM were screened for mutations in the cardiac troponin T gene. Results: The Arg92Trp missense mutation was present in 10 individuals fromtwo unrelated pedigrees. They exhibited different cardiac morphologies: three had dilated cardiomyopathy- like features, five had asymmetric septal hypertrophy with normal left ventricular systolic function, one had electrocardiographic abnormalities without hypertrophy, and one had the disease-causing mutation but did not fulfill the clinical criteria for the disease. The mean maximum wall thickness was 14.1 +/- 6.0 mm. The three patients with dilated cardiomyopathy-like features had progressive left ventricular dilation. Three individuals underwent right ventricular endomyocardial biopsy. There was a modest degree of myocardial hypertrophy (myocyte diameter: 18.9 /- 5.2 mum), and minimal myocardial disarray and mild fibrosis were noted. Conclusion: The Ag92Trp substitution in the cardiac troponin T gene shows a high degree of penetrance, moderate hypertrophy, and early progression todilated cardiomyopathy in Japanese patients. Early identification of individuals with this mutation may provide the opportunity to evaluate the efficacy of early therapeutic interventions.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 18:22:28