- 作者：Tomá ; s Ripoll Vera ; Lorenzo Monserrat Iglesias ; Manuel Hermida Prieto ; Martin Ortiz ; Isabel Rodriguez Garcia ; Nancy Govea Callizo ; Carlos Gó ; mez Navarro ; Jordi Rosell Andreo ; José ; Mar
- 关键词：Cardiomyopathy ; Hypertrophy ; Non-compaction ; Genetics ; Sudden death
- 刊名：International Journal of Cardiology
- 出版年：2010
- 出版时间：19 November 2010
- 年：2010
- 卷：145
- 期：2
- 页码：405-407
- 全文大小：205 K
ss=""h4"">BackgroundThe 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.ss=""h4"">Aims
To describe the phenotype associated with the R820W mutation identified in a human family.
ss=""h4"">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.
ss=""h4"">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 homozgous 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.
ss=""h4"">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.