Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg→Cys mutation in the β-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure

Yu Lin Ko*, Jin Jer Chen, Tang K. Tang, Jun Jack Cheng, Sheng Yu Lin, Yi Chyi Liou, Peiliang Kuan, Cheng-Wen Wu, Wen Pin Lien, Choong Chin Liew

*Corresponding author for this work

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Recent genotype-phenotype correlation studies in familial hypertrophic cardiomyopathy (FHC) have revealed that some mutations in the β-myosin heavy chain (BMHC) gene may be associated with a high incidence of sudden death and a poor prognosis. Coexistence of sudden death and end-stage heart failure in several families with FHC has recently being reported; however, the genetic basis of such families has not been clearly demonstrated. A three-generation Chinese familial hypertrophie cardiomyopathy (FHC) family (family HL1 ) with two cases of end-stage heart failure and three cases of sudden death was analyzed. The average age of death in the affected members in this family was 34 years old. Genetic linkage analysis using polymorphisms in the α- and β-myosin heavy chain genes revealed that FHC in this family is significantly linked to the BMHC gene without recombinations. Single-strand conformation polymorphism analysis of exons 8, 9 and 13 to 23 in the BMHC gene showed a polymorphic band on exon 14 that is in complete linkage with the disease status in this family. DNA sequencing analysis in the affected members revealed an 453Arg-→-Cys mutation in the BMHC gene. To our knowledge this is the first reported mutation of FHC in Chinese. Our data suggest that the 453Arg→Cys mutation is associated with a malignant clinical course in FHC due not only to sudden death but also to end-stage heart failure.

Original languageEnglish
Pages (from-to)585-590
Number of pages6
JournalHuman Genetics
Volume97
Issue number5
DOIs
StatePublished - 1 Jan 1996

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