A Novel Titin Mutation in Adult-Onset Familial Dilated Cardiomyopathy
| Autor: | Heike Resnik-Wolf, Yael Peled, Elon Pras, Brenda Gerull, Micha S. Feinberg, Michael Gramlich, Guy Yoskovitz, Arnon Afek, Dov Freimark, Hadas Lahat, Michael Arad |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Adult
Cardiomyopathy Dilated Male medicine.medical_specialty Genetic Linkage TNNT2 Cardiomyopathy Muscle Proteins Frameshift mutation LMNA Internal medicine Humans Medicine Connectin Israel Frameshift Mutation Ejection fraction biology business.industry Middle Aged medicine.disease Arabs Pedigree Haplotypes Chromosomes Human Pair 2 Heart failure biology.protein Cardiology Female Titin MYH7 Cardiology and Cardiovascular Medicine business Protein Kinases |
| Zdroj: | The American Journal of Cardiology. 109:1644-1650 |
| ISSN: | 0002-9149 |
| Popis: | Familial dilated cardiomyopathy is a major cause of advanced heart failure and heart transplantation. In most families, the disease-causing mutation is unknown, and relatives should therefore undergo periodic screening to facilitate early diagnosis and therapy. In the present study, we describe a novel titin truncation mutation causing adult-onset familial dilated cardiomyopathy in an Israeli Arab family. The family members underwent physical examination, electrocardiography, and Doppler echocardiography. Linkage to candidate loci was performed, followed by gene sequencing. We identified 13 clinically affected family members (8 men and 5 women, mean age 47 ± 12 years). Compared with their healthy first-degree relatives, the affected relatives had a larger end-diastolic left ventricular dimension (60 ± 10 vs 49 ± 4 mm, p |
| Databáze: | OpenAIRE |
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