Sarcomere Protein Gene Mutations in Patients With Apical Hypertrophic Cardiomyopathy
| Autor: | Harry Rakowski, Christiane Gruner, Katherine A. Siminovitch, Melanie Care, E. Douglas Wigle, Gil Moravsky, Anna Woo |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Sarcomeres medicine.medical_specialty Pathology Adolescent Genotype Heart disease Muscle Proteins Gene mutation Biology Left ventricular hypertrophy Muscle hypertrophy Electrocardiography Internal medicine Genetics medicine Humans Genetic Testing cardiovascular diseases Genetics (clinical) Genetic association Hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic Middle Aged medicine.disease Echocardiography Mutation cardiovascular system Cardiology Female Hypertrophy Left Ventricular MYH7 Cardiology and Cardiovascular Medicine |
| Zdroj: | Circulation: Cardiovascular Genetics. 4:288-295 |
| ISSN: | 1942-3268 1942-325X |
| DOI: | 10.1161/circgenetics.110.958835 |
| Popis: | Background— Apical hypertrophic cardiomyopathy (HCM) is a unique form of HCM with left ventricular hypertrophy confined to the cardiac apex. The purpose of our study was to report genetic findings in a large series of unrelated patients with apical HCM and compare them with a nonapical HCM cohort. Methods and Results— Overall, 429 patients with HCM underwent genetic testing. The panel included 8 sarcomere protein genes and 3 other genes (GLA, PRKAG2, and LAMP2). Sixty-one patients were diagnosed with apical HCM. A positive genotype was found in 8 patients with apical HCM. The genotype-positive and genotype-negative patients had similar maximal wall thicknesses (17.5±3.5 mm versus 17.6±3.3 mm, P =0.71) and similar frequency of HCM-related events (2/8; 25% versus 13/53; 25%; P =0.98). Thirteen percent with apical HCM and 40% with nonapical HCM had a positive genotype ( P MYBPC3 and MYH7 genes. Conclusions— In apical HCM, a positive genotype was found less frequently than in nonapical HCM, and it was most often involving MYBPC3 and MYH7 genes. Only 13% of patients with apical HCM were found to be genotype positive, indicating that genome-wide association studies and gene expression profiling are needed for better understanding of the genetic background of the disease. There was no significant genotype-phenotype correlation in our cohort with apical HCM. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|