[Dilated cardiomyopathy caused by p.E446K mutation in SCN5A gene]
| Autor: | Saber S, Shestak Ag, Zakliaz'minskaia Ev, Chapurnykh Av, Voronina Ts, Van EIu, S.L. Dzemeshkevich |
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| Rok vydání: | 2014 |
| Předmět: |
Cardiomyopathy
Dilated medicine.medical_specialty Pacemaker Artificial medicine.medical_treatment Population Left ventricular hypertrophy Severity of Illness Index Heart Septal Defects Atrial NAV1.5 Voltage-Gated Sodium Channel Internal medicine Atrial Fibrillation medicine Humans cardiovascular diseases Atrium (heart) Cardiac Surgical Procedures education Atrioventricular Block Heart transplantation education.field_of_study business.industry Cardiac Pacing Artificial Dilated cardiomyopathy Atrial fibrillation Myocardial Disorder medicine.disease Pedigree medicine.anatomical_structure Treatment Outcome Heart failure Mutation cardiovascular system Cardiology Hypertrophy Left Ventricular Cardiology and Cardiovascular Medicine business |
| Zdroj: | Kardiologiia. 54(3) |
| ISSN: | 0022-9040 |
| Popis: | Dilated cardiomyopathy (DCM) is myocardial disorder characterized by progressive heart chambers enlargement and impairment of myocardial contractility. This disorder is the most common cause of advanced heart failure requiring the heart transplantation. The prevalence of the disease is 36.5 per 100 000 in population. About 20-30% of cases are familial. Disease is genetically heterogenous, there more than 100 genes when mutated can give rise a DCM. In 2004, the role of SCN5A gene mutations was shown in origin of DCM with cardiac conduction defects and arrhythmias. In this work we present a clinical case of dilated cardiomyopathy with cardiac arrhythmias and p.E446K mutation in SCN5A gene. We have observed DCM with mild left ventricular hypertrophy, progressive AV block, atrial fibrillation and congenital heart defect (atrium septal defect) in two generations. The congenital heart defect did not co-segregate with SCN5A mutation and DCM. |
| Databáze: | OpenAIRE |
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