Congenital Short QT Syndrome
Abstract
Congenital short QT syndrome (SQTS) is characterised by extremely short QT intervals, typically with QTc less than 330 ms and a propensity for life threatening ventricular arrhythmias and atrial fibrillation. The QT interval in SQTS does not change significantly with heart rate and the T waves have a narrow base and high voltage, similar to those in hyperkalemia.References
1. Gussak I, Brugada P, Brugada J, Wright RS, Kopecky SL, Chaitman BR, Bjerregaard P. Idiopathic short QT interval: a new clinical syndrome? Cardiology. 2000; 94(2):99-102.
2. Gaita F, Giustetto C, Bianchi F, Wolpert C, Schimpf R, Riccardi R, Grossi S, Richiardi E, Borggrefe M. Short QT Syndrome: a familial cause of sudden death. Circulation. 2003 Aug 26; 108(8):965-70.
3. Antzelevitch C, Francis J. Congenital short QT syndrome. Indian Pacing Electrophysiol J. 2004 Apr 1;4(2):46-9.
4. Pérez Riera AR, Ferreira C, Dubner SJ, Schapachnik E, Soares JD, Francis J. Brief review of the recently described short QT syndrome and other cardiac channelopathies. Ann Noninvasive Electrocardiol. 2005 Jul;10(3):371-7.
5. Pérez Riera AR, Paixão-Almeida A, Barbosa-Barros R, Yanowitz FG, Baranchuk A, Dubner S, Palandri Chagas AC. Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy. Cardiol J. 2013;20(5):464-71.
6. Schimpf R, Veltmann C, Papavassiliu T, Rudic B, Göksu T, Kuschyk J, Wolpert C, Antzelevitch C, Ebner A, Borggrefe M, Brandt C. Drug-induced QT-interval shortening following antiepileptic treatment with oral rufinamide. Heart Rhythm. 2012 May;9(5):776-81.
7. Jørgensen IN, Skakkebaek A, Andersen NH, Pedersen LN, Hougaard DM, Bojesen A, Trolle C, Gravholt CH. Short QTc interval in males with klinefelter syndrome-influence of CAG repeat length, body composition, and testosterone replacement therapy. Pacing Clin Electrophysiol. 2015 Apr;38(4):472-82.
8. Iribarren C, Round AD, Peng JA, Lu M, Klatsky AL, Zaroff JG, Holve TJ, Prasad A, Stang P. Short QT in a cohort of 1.7 million persons: prevalence, correlates, and prognosis. Ann Noninvasive Electrocardiol. 2014 Sep;19(5):490-500.
9. Miyamoto A, Hayashi H, Yoshino T, Kawaguchi T, Taniguchi A, Itoh H, Sugimoto Y, Itoh M, Makiyama T, Xue JQ, Murakami Y, Horie M. Clinical and electrocardiographic characteristics of patients with short QT interval in a large hospital-based population. Heart Rhythm. 2012 Jan;9(1):66-74.
10. Dhutia H, Malhotra A, Parpia S, Gabus V, Finocchiaro G, Mellor G, Merghani A, Millar L, Narain R, Sheikh N, Behr ER, Papadakis M, Sharma S. The prevalence and significance of a short QT interval in 18 825 low-risk individuals including athletes. Br J Sports Med. 2015 Sep 23. pii: bjsports-2015-094827. doi: 10.1136/bjsports-2015-094827. [Epub ahead of print]
11. Hocini M, Pison L, Proclemer A, Larsen TB, Madrid A, Blomström-Lundqvist C; Scientific Initiative Committee, European Heart Rhythm Association. Diagnosis and management of patients with inherited arrhythmia syndromes in Europe: results of the European Heart Rhythm Association Survey. Europace. 2014 Apr;16(4):600-3.
12. Harrell DT, Ashihara T, Ishikawa T, Tominaga I, Mazzanti A, Takahashi K, Oginosawa Y, Abe H, Maemura K, Sumitomo N, Uno K, Takano M, Priori SG, Makita N. Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. Int J Cardiol. 2015 Jul 1;190:393-402.
13. Villafañe J, Fischbach P, Gebauer R. Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia. Cardiology. 2014;128(3):236-40.
14. Righi D, Silvetti MS, Drago F. Sinus bradycardia, junctional rhythm, and low-rate atrial fibrillation in Short QT syndrome during 20 years of follow-up: three faces of the same genetic problem. Cardiol Young. 2015 Aug 17:1-4. [Epub ahead of print]
15. Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M. Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype. Hum Mol Genet. 2014 Sep 15;23(18):4875-86.
16. Mazzanti A, Kanthan A, Monteforte N, Memmi M, Bloise R, Novelli V, Miceli C, O'Rourke S, Borio G, Zienciuk-Krajka A, Curcio A, Surducan AE, Colombo M, Napolitano C, Priori SG. Novel insight into the natural history of short QT syndrome. J Am Coll Cardiol. 2014 Apr 8;63(13):1300-8.
17. Frea S, Giustetto C, Capriolo M, Scrocco C, Fornengo C, Benedetto S, Bianchi F, Pidello S, Morello M, Gaita F. New echocardiographic insights in short QT syndrome: more than a channelopathy? Heart Rhythm. 2015 May 20. pii: S1547-5271(15)00626-8.
18. Tülümen E, Giustetto C, Wolpert C, Maury P, Anttonen O, Probst V, Blanc JJ, Sbragia P, Scrocco C, Rudic B, Veltmann C, Sun Y, Gaita F, Antzelevitch C, Borggrefe M, Schimpf R. PQ segment depression in patients with short QT syndrome: a novel marker for diagnosing short QT syndrome? Heart Rhythm. 2014 Jun;11(6):1024-30.
19. Sy RW, van der Werf C, Chattha IS, Chockalingam P, Adler A, Healey JS, Perrin M, Gollob MH, Skanes AC, Yee R, Gula LJ, Leong-Sit P, Viskin S, Klein GJ, Wilde AA, Krahn AD. Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. Circulation. 2011 Nov 15;124(20):2187-94.
20. Roussel J, Labarthe F, Thireau J, Ferro F, Farah C, Roy J, Horiuchi M, Tardieu M, Lefort B, François Benoist J, Lacampagne A, Richard S, Fauconnier J, Babuty D, Le Guennec JY. Carnitine deficiency induces a short QT syndrome. Heart Rhythm. 2015 Jul 17. pii: S1547-5271(15)00940-6.
21. Gollob MH, Redpath CJ, Roberts JD.The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011 Feb 15;57(7):802-12.
22. Villafañe J, Atallah J, Gollob MH, Maury P, Wolpert C, Gebauer R, Watanabe H, Horie M, Anttonen O, Kannankeril P, Faulknier B, Bleiz J, Makiyama T, Shimizu W, Hamilton RM, Young ML. Long-term follow-up of a pediatric cohort with short QT syndrome. J Am Coll Cardiol. 2013 Mar 19;61(11):1183-91.
23. Maury P, Extramiana F, Giustetto C, Cardin C, Rollin A, Duparc A, Mondoly P, Denjoy I, Delay M, Messali A, Leenhardt A, Marangoni D. Microvolt T-wave alternans in short QT syndrome. Pacing Clin Electrophysiol. 2012 Dec;35(12):1413-9.
24. Giustetto C, Schimpf R, Mazzanti A, Scrocco C, Maury P, Anttonen O, Probst V, Blanc JJ, Sbragia P, Dalmasso P, Borggrefe M, Gaita F. Long-term follow-up of patients with short QT syndrome. J Am Coll Cardiol. 2011 Aug 2;58(6):587-95.
25. Bodi I, Franke G, Pantulu ND, Wu K, Perez-Feliz S, Bode C, Zehender M, zur Hausen A, Brunner M, Odening KE. Differential effects of the β-adrenoceptor blockers carvedilol and metoprolol on SQT1- and SQT2-mutant channels. J Cardiovasc Electrophysiol. 2013 Oct;24(10):1163-71.
26. Chinushi M, Sato A, Izumi D, Furushima H. Nifekalant enlarged the transmural activation-recovery interval difference as well as the peak-to-end interval on surface ECG in a patient with short-QT syndrome. J Cardiovasc Electrophysiol. 2012 Aug;23(8):877-80.
27. Bun SS, Maury P, Giustetto C, Deharo JC. Electrical storm in short-QT syndrome successfully treated with Isoproterenol. J Cardiovasc Electrophysiol. 2012 Sep;23(9):1028-30.
2. Gaita F, Giustetto C, Bianchi F, Wolpert C, Schimpf R, Riccardi R, Grossi S, Richiardi E, Borggrefe M. Short QT Syndrome: a familial cause of sudden death. Circulation. 2003 Aug 26; 108(8):965-70.
3. Antzelevitch C, Francis J. Congenital short QT syndrome. Indian Pacing Electrophysiol J. 2004 Apr 1;4(2):46-9.
4. Pérez Riera AR, Ferreira C, Dubner SJ, Schapachnik E, Soares JD, Francis J. Brief review of the recently described short QT syndrome and other cardiac channelopathies. Ann Noninvasive Electrocardiol. 2005 Jul;10(3):371-7.
5. Pérez Riera AR, Paixão-Almeida A, Barbosa-Barros R, Yanowitz FG, Baranchuk A, Dubner S, Palandri Chagas AC. Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy. Cardiol J. 2013;20(5):464-71.
6. Schimpf R, Veltmann C, Papavassiliu T, Rudic B, Göksu T, Kuschyk J, Wolpert C, Antzelevitch C, Ebner A, Borggrefe M, Brandt C. Drug-induced QT-interval shortening following antiepileptic treatment with oral rufinamide. Heart Rhythm. 2012 May;9(5):776-81.
7. Jørgensen IN, Skakkebaek A, Andersen NH, Pedersen LN, Hougaard DM, Bojesen A, Trolle C, Gravholt CH. Short QTc interval in males with klinefelter syndrome-influence of CAG repeat length, body composition, and testosterone replacement therapy. Pacing Clin Electrophysiol. 2015 Apr;38(4):472-82.
8. Iribarren C, Round AD, Peng JA, Lu M, Klatsky AL, Zaroff JG, Holve TJ, Prasad A, Stang P. Short QT in a cohort of 1.7 million persons: prevalence, correlates, and prognosis. Ann Noninvasive Electrocardiol. 2014 Sep;19(5):490-500.
9. Miyamoto A, Hayashi H, Yoshino T, Kawaguchi T, Taniguchi A, Itoh H, Sugimoto Y, Itoh M, Makiyama T, Xue JQ, Murakami Y, Horie M. Clinical and electrocardiographic characteristics of patients with short QT interval in a large hospital-based population. Heart Rhythm. 2012 Jan;9(1):66-74.
10. Dhutia H, Malhotra A, Parpia S, Gabus V, Finocchiaro G, Mellor G, Merghani A, Millar L, Narain R, Sheikh N, Behr ER, Papadakis M, Sharma S. The prevalence and significance of a short QT interval in 18 825 low-risk individuals including athletes. Br J Sports Med. 2015 Sep 23. pii: bjsports-2015-094827. doi: 10.1136/bjsports-2015-094827. [Epub ahead of print]
11. Hocini M, Pison L, Proclemer A, Larsen TB, Madrid A, Blomström-Lundqvist C; Scientific Initiative Committee, European Heart Rhythm Association. Diagnosis and management of patients with inherited arrhythmia syndromes in Europe: results of the European Heart Rhythm Association Survey. Europace. 2014 Apr;16(4):600-3.
12. Harrell DT, Ashihara T, Ishikawa T, Tominaga I, Mazzanti A, Takahashi K, Oginosawa Y, Abe H, Maemura K, Sumitomo N, Uno K, Takano M, Priori SG, Makita N. Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. Int J Cardiol. 2015 Jul 1;190:393-402.
13. Villafañe J, Fischbach P, Gebauer R. Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia. Cardiology. 2014;128(3):236-40.
14. Righi D, Silvetti MS, Drago F. Sinus bradycardia, junctional rhythm, and low-rate atrial fibrillation in Short QT syndrome during 20 years of follow-up: three faces of the same genetic problem. Cardiol Young. 2015 Aug 17:1-4. [Epub ahead of print]
15. Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M. Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype. Hum Mol Genet. 2014 Sep 15;23(18):4875-86.
16. Mazzanti A, Kanthan A, Monteforte N, Memmi M, Bloise R, Novelli V, Miceli C, O'Rourke S, Borio G, Zienciuk-Krajka A, Curcio A, Surducan AE, Colombo M, Napolitano C, Priori SG. Novel insight into the natural history of short QT syndrome. J Am Coll Cardiol. 2014 Apr 8;63(13):1300-8.
17. Frea S, Giustetto C, Capriolo M, Scrocco C, Fornengo C, Benedetto S, Bianchi F, Pidello S, Morello M, Gaita F. New echocardiographic insights in short QT syndrome: more than a channelopathy? Heart Rhythm. 2015 May 20. pii: S1547-5271(15)00626-8.
18. Tülümen E, Giustetto C, Wolpert C, Maury P, Anttonen O, Probst V, Blanc JJ, Sbragia P, Scrocco C, Rudic B, Veltmann C, Sun Y, Gaita F, Antzelevitch C, Borggrefe M, Schimpf R. PQ segment depression in patients with short QT syndrome: a novel marker for diagnosing short QT syndrome? Heart Rhythm. 2014 Jun;11(6):1024-30.
19. Sy RW, van der Werf C, Chattha IS, Chockalingam P, Adler A, Healey JS, Perrin M, Gollob MH, Skanes AC, Yee R, Gula LJ, Leong-Sit P, Viskin S, Klein GJ, Wilde AA, Krahn AD. Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. Circulation. 2011 Nov 15;124(20):2187-94.
20. Roussel J, Labarthe F, Thireau J, Ferro F, Farah C, Roy J, Horiuchi M, Tardieu M, Lefort B, François Benoist J, Lacampagne A, Richard S, Fauconnier J, Babuty D, Le Guennec JY. Carnitine deficiency induces a short QT syndrome. Heart Rhythm. 2015 Jul 17. pii: S1547-5271(15)00940-6.
21. Gollob MH, Redpath CJ, Roberts JD.The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011 Feb 15;57(7):802-12.
22. Villafañe J, Atallah J, Gollob MH, Maury P, Wolpert C, Gebauer R, Watanabe H, Horie M, Anttonen O, Kannankeril P, Faulknier B, Bleiz J, Makiyama T, Shimizu W, Hamilton RM, Young ML. Long-term follow-up of a pediatric cohort with short QT syndrome. J Am Coll Cardiol. 2013 Mar 19;61(11):1183-91.
23. Maury P, Extramiana F, Giustetto C, Cardin C, Rollin A, Duparc A, Mondoly P, Denjoy I, Delay M, Messali A, Leenhardt A, Marangoni D. Microvolt T-wave alternans in short QT syndrome. Pacing Clin Electrophysiol. 2012 Dec;35(12):1413-9.
24. Giustetto C, Schimpf R, Mazzanti A, Scrocco C, Maury P, Anttonen O, Probst V, Blanc JJ, Sbragia P, Dalmasso P, Borggrefe M, Gaita F. Long-term follow-up of patients with short QT syndrome. J Am Coll Cardiol. 2011 Aug 2;58(6):587-95.
25. Bodi I, Franke G, Pantulu ND, Wu K, Perez-Feliz S, Bode C, Zehender M, zur Hausen A, Brunner M, Odening KE. Differential effects of the β-adrenoceptor blockers carvedilol and metoprolol on SQT1- and SQT2-mutant channels. J Cardiovasc Electrophysiol. 2013 Oct;24(10):1163-71.
26. Chinushi M, Sato A, Izumi D, Furushima H. Nifekalant enlarged the transmural activation-recovery interval difference as well as the peak-to-end interval on surface ECG in a patient with short-QT syndrome. J Cardiovasc Electrophysiol. 2012 Aug;23(8):877-80.
27. Bun SS, Maury P, Giustetto C, Deharo JC. Electrical storm in short-QT syndrome successfully treated with Isoproterenol. J Cardiovasc Electrophysiol. 2012 Sep;23(9):1028-30.
