Appropriate use of genetics in a young patient with atrioventricular block and family history of sudden cardiac death
| Autor: | Henrik Jensen, Henning Bundgaard, Jens Cosedis Nielsen, Johnni Rudbeck-Resdal |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
medicine.medical_treatment Cardiomyopathy Cardiac resynchronization therapy LMNA Case Report 030204 cardiovascular system & hematology Aborted sudden cardiac death Sudden cardiac death 03 medical and health sciences 0302 clinical medicine Genetic Internal medicine Medicine 030212 general & internal medicine Family history Muscular dystrophy Lamin A/C business.industry ICD medicine.disease Cardiac surgery cardiovascular system Cardiology Cardiology and Cardiovascular Medicine business Atrioventricular block |
| Zdroj: | HeartRhythm Case Reports Rudbeck-Resdal, J, Nielsen, J C, Bundgaard, H & Jensen, H K 2019, ' Appropriate use of genetics in a young patient with atrioventricular block and family history of sudden cardiac death ', HeartRhythm Case Reports, vol. 5, no. 3, pp. 169-172 . https://doi.org/10.1016/j.hrcr.2018.12.004 |
| ISSN: | 2214-0271 |
| DOI: | 10.1016/j.hrcr.2018.12.004 |
| Popis: | Atrioventricular (AV) block is a common condition that occurs at all ages, but most often in the elderly.1 Among younger patients, AV block is most often seen as a complication of cardiac surgery or as congenital AV block. In some (but rare) cases, AV block is due to genetic causes. Variants in the lamin A/C gene are associated with AV block, cardiomyopathy, ventricular arrhythmias, muscular dystrophy, and sudden cardiac death.2, 3 Lamin A and lamin C are major structural proteins of the cell nucleus membrane.4 The cellular mechanism causing AV block in patients with lamin A/C gene variants is not fully understood.5 Previous studies have shown that implanting an implantable cardioverter-defibrillator (ICD) in patients with lamin A/C variants complicated by AV block is effective in treating malignant ventricular arrhythmia (MVA), and thereby potentially preventing sudden cardiac death.6, 7 We report how appropriate use of molecular genetic testing in a 35-year-old man with advanced AV block and family history of sudden cardiac death resulted in an upgrade of the patient’s dual-chamber pacemaker to a biventricular ICD (cardiac resynchronization therapy defibrillator [CRT-D]), which most likely saved the patient’s life. |
| Databáze: | OpenAIRE |
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