Sudden death in a young patient with atrial fibrillation
| Autor: | Víctor Gómez-Carrillo, María Ángeles Espinosa, F. Fernandez-Aviles, María Tamargo, R. Yotti, Miriam Juárez |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities lcsh:Diseases of the circulatory (Cardiovascular) system Long QT syndrome Catecholaminergic polymorphic ventricular tachycardia Sudden death sudden cardiac death Sudden cardiac death channelopathy Internal medicine medicine cardiovascular diseases General Environmental Science Brugada syndrome KCNQ1 business.industry Atrial fibrillation Short QT syndrome medicine.disease lcsh:RC666-701 Cardiology cardiovascular system General Earth and Planetary Sciences mutation business Familial atrial fibrillation atrial fibrillation |
| Zdroj: | Cardiogenetics, Vol 7, Iss 1 (2017) Cardiogenetics Volume 7 Issue 1 |
| ISSN: | 2035-8148 2035-8253 |
| Popis: | Sudden cardiac death (SCD) in young patients without structural heart disease is frequently due to inherited channelopathies such as long QT syndrome (LQTS), Brugada syndrome or Catecholaminergic polymorphic ventricular tachycardia. Accordingly, the addition of genetic testing to clinical data may be useful to identify the cause of the sudden death in this population. Mutations in the KCNQ1 encoded Kv7.1 channel are related to type 1 LQTS, familial atrial fibrillation (AF), short QT syndrome, and SCD. We present a clinical case where the presence of AF after resuscitation in a young man with cardiac arrest was the key clinical data to suspect an inherited disorder and genetic testing was the main determinant for identifying the cause of the cardiac arrest. The KCNQ1 p.Arg231His mutation explained the combined phenotype of AF and susceptibility to ventricular arrhythmias. The case highlights the importance of continued research in genetics and molecular mechanisms of channelopathies. |
| Databáze: | OpenAIRE |
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