Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene in a Chinese pedigree / 中华心血管病杂志
Chinese Journal of Cardiology
; (12): 208-211, 2006.
Article
en Zh
| WPRIM
| ID: wpr-295345
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>Hypertrophic cardiomyopathy (HCM) is a genetically and phenotypically heterogeneous disease and an Arg723Gly mutation in beta-myosin heavy chain (beta-MHC) gene was found in 3 Spanish families with malignant HCM. We detected this gene mutation in 5 Chinese pedigrees with hypertensive cardiomyopathy.</p><p><b>METHODS</b>Five Chinese pedigrees with HCM and 80 age-matched normal control subjects were chosen for the study. The exons in the functional regions of the beta-MHC gene were amplified with PCR and the products were sequenced, genotype and phenotype analyzed.</p><p><b>RESULTS</b>Arg723Gly mutation was identified in exon 20 in one pedigree. In this pedigree, 13 out of 25 family members were diagnosed as HCM, 5 died of heart failure, all HCM patients in this pedigree had Arg723Gly mutation and 3 of them had NYHA III and 2 of them were diagnosed as HCM before the age of 20.</p><p><b>CONCLUSIONS</b>Arg723Gly mutation was also one of the main disease-causing genes in Chinese familial HCM. The mutation of Arg723Gly is a malignant phenotype as shown by early progressive heart failure development and poor prognosis in this pedigree with Arg723Gly mutation.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Linaje
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Fenotipo
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China
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Epidemiología
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Cadenas Pesadas de Miosina
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Cardiomiopatía Hipertrófica Familiar
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Pueblo Asiatico
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Genética
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Genotipo
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Mutación
Límite:
Adolescent
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Adult
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Female
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Cardiology
Año:
2006
Tipo del documento:
Article