当前位置： SCI文献检索 > INTERNATIONAL JOURNAL OF CARDIOLOGY期刊下所有文献 > The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.

The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.

Abstract：

BACKGROUND:The R820W mutation in the MYBPC3 gene has been associated with the development of hypertrophic cardiomyopathy (HCM) in rag-doll cats, but had not been described in humans. AIMS:To describe the phenotype associated with the R820W mutation identified in a human family. METHODS:The R820W was identified by direct sequencing of the MYBPC3 gene in a 47 year old woman with HCM and left ventricular non-compaction (LVNC). Clinical and genetic studies of the R820W mutation were performed in her family. RESULTS:The index patient was homozygous for the mutation and had no additional mutations in the main sarcomeric genes (MYH7, TNNT2, TNNI3, and TPM1). She had HCM with LVNC and normal systolic function. One brother had died suddenly at age 43 years. Another brother diagnosed of LVNC with severe systolic dysfunction and a cardiac arrest was also homozygous for the mutation. One heterozygous 31 year old sister, and three heterozygous sons of the index (ages 14, 20 and 23 years old) were clinically unaffected. The father of the index was apparently healthy and her mother had atrial fibrillation and an electrocardiographic diagnosis of left ventricular hypertrophy at age 86 years. CONCLUSION:The R820W mutation in the MYBPC3 gene, previously associated with HCM in rag-doll cats, causes both HCM and LVNC in homozygous human carriers, with mild or null clinical expression in heterozygous carriers.

journal_name

Int J Cardiol

journal_title

International journal of cardiology

authors

Ripoll Vera T,Monserrat Iglesias L,Hermida Prieto M,Ortiz M,Rodriguez Garcia I,Govea Callizo N,Gómez Navarro C,Rosell Andreo J,Gámez Martínez JM,Pons Lladó G,Cremer Luengos D,Torres Marqués J

doi

10.1016/j.ijcard.2010.04.032

subject

Has Abstract

pub_date

2010-11-19 00:00:00

pages

405-407

issue

2

eissn

0167-5273

issn

1874-1754

pii

S0167-5273(10)00248-2

journal_volume

145

pub_type

信件

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