REVIEW PAPER
Cardiac channelopathies – A too frequently trivialized problem?
 
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Chair and department of Family Medicine, Medical University, Lublin, Poland
CORRESPONDING AUTHOR
Marcin Urbańczuk   

Chair and department of Family Medicine, Medical University, Staszica 11, 20-081 Lublin, Poland
 
J Pre Clin Clin Res. 2015;9(1):69–73
KEYWORDS
ABSTRACT
Channelopathies are a genetically conditioned group of disorders related with defects in ion channels, responsible for the occurrence of dangerous abnormal heart rhythm in a structurally normal heart. These diseases are a frequent cause of arrhythmias and sudden cardiac death, especially among the young population. The following congenital channelopathies are discussed in the presented study: long QT syndrome (LQTS), Brugada syndrome, short QT syndrome (SQTS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). The symptoms most often occur during physical effort or great stress, but may also occur while resting. The diagnosis is based on medical and family history taking, ECG recording, and sometimes on genetic tests. These diseases are relatively prevalent and are characterized by high mortality. Unfortunately, the treatment remains practically exclusively symptomatic. Pharmacotherapy and implantable cardioverter-defibrilator (ICD) are used to prevent sudden cardiac death. In some centres worldwide, surgical left cardiac sympathetic denervation (LCSD) is performed in patients with contraindications for other forms of therapy.
 
REFERENCES (24)
1.
González-Melchor L, Villarreal-Molina T, Iturralde-Torres P, Medeiros-Domingo A. Sudden cardiac death in individuals with normal hearts: an update. Arch Cardiol Mex. 2014; 84: 218–223.
 
2.
Wiśniewski S, Kordel K, Olasiński J, Olasińska-Wiśniewska A, Wiśniewska-Śliwińska H, Marcinkowski J. Nagły zgon sercowy w materiale sekcyjnym Katedry i Zakładu Medycyny Sądowej Uniwersytetu Medycznego im. K. Marcinkowskiego w Poznaniu w latach 2001 2005. Orzecznictwo Lekarskie 2010; 7(2): 94–98 (in Polish).
 
3.
Kaab S, Schulze-Bahr E. Susceptibility genes and modifiers for cardiac arrhythmias. Cardiovasc Res. 2005; 67: 397–413.
 
4.
Kapplinger JD, Tester DJ, Alders M, et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010; 7: 33–46.
 
5.
Schmitt N, et al. Cardiac Potassium Channel Subtypes: New Roles in Repolarization and Arrhythmia. Physiological Reviews 2014; 94: 609–653.
 
6.
Babarova M, et al. Dual Effect of Ethanol on Inward Rectifier Potassium Current IK1 in Rat Ventricular Myocytes. J Physiol Pharmacol. 2014; 65: 497–509.
 
7.
Kauferstein S, Kiehne N, Neumann T, et al. Cardiac gene defects can cause sudden cardiac death in young people. Dtsch Arztebl Int. 2009; 106(4): 41–47.
 
8.
Antzelevitch C. Drug induced spatial dispersion of repolarization. Cardiol J. 2008; 15 (2): 100–121.
 
9.
Szczeklik A, Tendera M. Kardiologia Tom I. Kraków: Medycyna Praktyczna 2009: 447–450 (in Polish).
 
10.
Splawski I, Timothy KW, Sharpe LM. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119: 19–31.
 
11.
Markiewicz-Łoskot G, Moric-Janiszewska E, Mazurek U. The risk of cardiac events and genotype-based management of LQTS patients. Ann Noninvasive Electrocardiol. 2009; 14: 86–92.
 
12.
Schwartz PJ, Moss AJ, Vincent GM, Crampton RS. Diagnostic criteria for the long QT syndrome. An update. Circulation 1993; 88: 782–784.
 
13.
Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes. Heart Rhythm. 2013; 10(12): 1932–1963.
 
14.
Bos JM, Bos KM, Johnson JN, Moir C, Ackerman MJ.Left cardiac sympathetic denervation in long QT syndrome: analysis of therapeutic nonresponders. Circulation: Arrhythmia and Electrophysiology. 2013; 6: 705–711.
 
15.
Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 1992; 20: 1391–1396.
 
16.
Donohue D, Tehrani F, Jamehdor R, Lam C, Movahed MR. The prevalence of Brugada ECG in adult patients in a large university hospital in the western United States. Am Heart Hosp J. 2008; 6: 48–50.
 
17.
Miyasaka Y, Tsuji H, Yamada K, Tokunaga S, Saito D, Imuro Y, et al. Prevalence and mortality of the Brugada-type electrocardiogram in one city in Japan. J Am Coll Cardiol. 2001; 38: 771–774.
 
18.
Berne P1, Brugada J. Brugada Syndrome 2012. Circulation Journal 2012; 76(7): 1563–1571.
 
19.
Nowowiejska-Wiewióra A, Hudzik B, Adamowicz-Czoch E. Zespół Brugadów – tym razem do dwóch razy sztuka. Folia Cardiologica Excerpta 2010; 5(5): 310–314 (in Polish).
 
20.
Gaita F, Giustetto C, et al. Short QT Syndrome: a familial cause of sudden death. Circulation. 2003; 108(8): 965–970.
 
21.
Bellocq C, van Ginneken AC, et al. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation. 2004; 109(20): 2394–2397.
 
22.
Giustetto C, Schimpf R, et al. Long-term follow-up of patients with short QT syndrome. Journal of the American College of Cardiology. 2011; 58(6): 587–595.
 
23.
Tester DJ, Ackerman MJ. Postmortem long QT syndrome genetic screening for sudden unexplained death in the young. J Am Coll Cardiol. 2007; 49: 240–243.
 
24.
Vyas H, Hejlik J, Ackermann MJ. Epinephrine QT stress testing in the evaluation of congenital LQTS: diagnostic accuracy of paradoxical QT response. Circulation 2006; 113: 1385–1392.
 
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