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Titolo:
COUNSELING ISSUES IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
Autore:
YU B; FRENCH JA; JEREMY RW; FRENCH P; MCTAGGART DR; NICHOLSON MR; SEMSARIAN C; RICHMOND DR; TRENT RJ;
Indirizzi:
ROYAL PRINCE ALFRED HOSP,DEPT MOL & CLIN GENET,MISSENDEN RD SYDNEY NSW 2050 AUSTRALIA ROYAL PRINCE ALFRED HOSP,DEPT MOL & CLIN GENET SYDNEY NSW 2050 AUSTRALIA ROYAL PRINCE ALFRED HOSP,DEPT CARDIOL SYDNEY NSW 2050 AUSTRALIA CALVARY HOSP,DIV MED CANBERRA ACT AUSTRALIA LAUNCESTON GEN HOSP,DEPT MED LAUNCESTON AUSTRALIA ROYAL HOBART HOSP,DIV CARDIOL HOBART TAS AUSTRALIA
Titolo Testata:
Journal of Medical Genetics
fascicolo: 3, volume: 35, anno: 1998,
pagine: 183 - 188
SICI:
0022-2593(1998)35:3<183:CIIFHC>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHAIN GENE-MUTATIONS; SUDDEN-DEATH; PROGNOSTIC IMPLICATIONS; MYOSIN; CHILDREN;
Keywords:
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; COUNSELING; PENETRANCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
B. Yu et al., "COUNSELING ISSUES IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY", Journal of Medical Genetics, 35(3), 1998, pp. 183-188

Abstract

To illustrate the variable clinical presentations and rates of progression in familial hypertrophic cardiomyopathy (FHC), phenotypes and genotypes were compared in three FHC families with different genetic defects. In the first family, the FHC abnormality was a protein truncating mutation (Gln969X) in the cardiac myosin binding protein C gene. Thesecond family had a missense change (Asn755Lys) in the same gene. A missense mutation (Arg453Cys) in the cardiac beta myosin heavy chain gene was present in the third family. Penetrance associated with the Gln969X defect was 27% in the age range 0 to 40 years. This was considerably less than the 93% penetrance (0 to 40 years) observed in the two families with missense mutations. The variable penetrance in FHC, as well as the unpredictability of sudden cardiac death, complicates clinical diagnosis and management, including genetic counselling. Although agenetic disease with a predominantly adult onset, there are counselling issues in FHC which set it aside from other adult onset disorders.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 20:03:54