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- Title
Prevalence of cardiac channelopathies in a tertiary referral centre in Northern Ireland.
- Authors
Bennett, J. R.; McOsker, J.; Jardine, T. C. L.; Scott, P. J.; McKeown, P. P.
- Abstract
Several primary cardiac arrhythmia syndromes are known to have a genetic basis and are caused by mutations in ion channel genes. These mutations cause abnormal ionic currents which can lead to ECG abnormalities and cardiac arrhythmias. These syndromes, known as cardiac channelopathies, include long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome (BS) and catecholaminergic polymorphic ventricular tachycardia (CPVT), and are responsible for up to 40% of all cases of Sudden Adult Death Syndrome. To date 32 families have been genetically diagnosed with LQTS. In these families 250 individuals have been genetically screened; 141 (56%) carry a mutation for LQTS and 95 (38%) are non-carriers (results pending in 14 (6%)). A further 10 families have a clinical diagnosis of LQTS with no gene mutation identified (sensitivity of 70% for picking up LQTS). These families were identified following; investigation of syncope (35.4%), routine ECG (19.3%), screening following sudden death in family (16.1%), successful resuscitation of cardiac arrest (13%), investigation of palpitations (13%) and investigation following a near drowning episode (3.2%). Nine families have been referred for investigation of likely BS; 3 have mutations in SCN5A detected by genetic screening (sensitivity of 30% for picking up BS2). One family has been diagnosed with CPVT on genetic screening and CPVT is a possible diagnosis in 1 other family. No SQTS families have been identified. Cardiac channelopathies are important primary cardiac arrhythmia syndromes. Genetic testing aids in the identification of individuals carrying these gene mutations so that appropriate management can be implemented.
- Subjects
ARRHYTHMIA; HEART disease genetics; GENETIC mutation; BRUGADA syndrome; GENETIC testing; VENTRICULAR tachycardia
- Publication
Ulster Medical Journal, 2008, Vol 77, Issue 2, p135
- ISSN
0041-6193
- Publication type
Article