Short QT Syndrome Patients

Clinical cases of Short QT Syndrome

Idiopathic Short QT Interval: A New Clinical Syndrome

Gussak I, Brugada P, Brugada J, Wright RS, Kopecky SL, Chaitman BR, Bjerregaard P.. Cardiology 2000;94:99-102

The first report of a family with a very short QT interval consisting of a 51-year-old white female and her two children, a 17-year-old daughter and a 21-year-old son, discovered when the daughter presented with atrial fibrillation and a QT interval of 250 msec at a heart rate of 75 bpm. (Later it was discovered that the maternal grandfather also had very short QT interval and atrial fibrillation)

Added to the story of a 37-year-old Spanish female with sudden cardiac death and an ECG with a QT interval of 266 msec at a heart rate of 52 bpm led to the suggestion of a link between the very short QT interval and the proclivity to atrial and ventricular tachy-arrhythmias from a very short refractory period in both the atria and ventricles.

The authors made the suggestion “If additional supporting clinical data becomes available, we believe that – in parallel with ‘Long QT Syndrome’ – the combination of short QT interval and electrical instability could appropriately be named the ‘Short QT Interval Syndrome’.”

Total # of 4 cases

Short QT: A New Electrocardiographic Pattern Related to Familial Sudden Death Gaita F, Giustetto C, Bianchi F, Riccardi R, Grossi S, Richiardi E.. JACC 2003;4(Supplement A): 818-3 (Abstract)

Presentation at the ACC meeting in Chicago, March 2003 of three living members of an Italian family with SCD for four generations. The subjects presented with a history of palpitations, syncope or aborted SCD and ECG’s with very short QT intervals (mean value of 240 ms and mean corrected QT of 290 ms). Organic heart disease was ruled out and during EP-study easily inducible VF with very short periods in both atria and ventricles.

Flecainide was shown to increase the refractory periods and make VF no longer inducible.

This was the first presentation of a family with both a high incidence of SCD and a high incidence of Short QT in the ECG, and also the first documentation of cardiac arrest in a child (at the age of 8 months) with a short QT-interval.

Short QT Syndrome. A Familial Cause of Sudden Death Gaita F, Giustetto C, Bianchi F, Wolpert C, Schrimpf R, Riccardi R, Grossi S, Richiardi E, Borggrefe M.. Circulation 2003;108:965-970

In this paper an Italian family described at the ACC meeting is combined with the description of a German family with very similar story. Among the 16 member Italian family there were 6 sudden cardiac death with one having documented short QT. Two additional members of the family had short QT. Two of the 3 patients with short QT also had left axis deviation suggesting left anterior hemiblock. Among the 23 member German family there were 3 sudden cardiac death with one having documented short QT. Three additional members of that family had short QT.

Six out of the 7 patients with short QT were submitted to serial ECG testing, echocardiography, cardiac MRI, exercise testing, Holter monitoring and signal-averaged ECG recording. Four underwent in addition an electrophysiological evaluation including programmed ventricular stimulation.

None of the patients showed any evidence of structural heart disease. Baseline ECG showed in all patients a QT interval </= 280 ms and the EP-study showed very short refractory period both in the atria and the ventricles with induction of VF by PES in 3 of the 4 patients (in 2 patients even by catheter manipulation during placement of the catheters prior to the procedure). Three patients received an ICD. This paper had clearly demonstrated the malignant nature of idiopathic, very short QT interval.

7 cases (total # 11)

Sudden Death Associated With Short-QT Syndrome Linked to Mutations In HERG.

Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM, Brugada J, Pollevick GD, Wolpert C, Burachnikov E, Matsuo K, Wu YS, Guerchicoff A, Bianchi F, Giustetto C, Schrimpf R, Brugada P, Antzelevich C. Circulation 2004,109:30-35

(See under genetics)

2 cases (total # 13)

Bellocq C, van Ginneken ACG, Bezzina CR, Alders M, Escande D, Mannens MMAM, Baro I, Wilde AAM. Mutation in the KCNQ1 Gene Leading to the Short QT-Interval Syndrome. Circulation 2004;109:2394-2397.

(See under genetics) 1 case (total # 14)

Atrial Fibrillation in the Setting of Familial Short QT Interval Bjerregaard P, Gussak I. Heart Rhythm 2004;1(1S):522

Grandfather to the very first patient with Short QT Syndrome was added to the three original family members.

1 case (total # 15)

A Novel Form of Short QT Syndrome (SQT3) Is Caused by a Mutation in the KCNJ2 Gene**.** Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, Raffaele di Bartella M, Gudapakkam S, Bosi G, Stramba-Badiale M, Jalife J. (IRCCS Fondazione Maugeri, Pavia, ItalyCirc Res. 2005;96:800-807

(See under genetics) 2 cases (total # 17)

Brief Review of the Recently Described Short QT Syndrome and Other Cardiac Channelopathies Riera ARP, Ferreira C, Dubner SJ, Schapachnik E, Soares JD, Francis J. (ABC Foundation, Santo André, Saõ Paulo, Brazil. A.N.E. 2005;10(3):371-377

A review of cardiac channelopathies including a description of a 27-year-old male with paroxysmal atrial fibrillation, right bundle branch block and QT and QTc intervals of 302 ms and 315 ms, respectively, at a heart rate of 67 beats/min

1 case (total # 18)

Short QT syndrome: Should we push the frontier forward? Maury P, Hollington L, Duparc A, Brugada R. (University Hospital Rangueil, Toulouse, France) Heart Rhythm 2005;2:1135-1137

Description of a 15-year old boy resuscitated from VF. QT intervals varied between 245 and 320 ms with QTc’s at HR < 85 bpm between 315 and 375 ms. Repeat ECG’s in his two brothers displayed QT intervals </= 300 ms in one sibling and of 320 ms in the other in whom ventricular arrhythmia was induced. QT intervals of the mother were variable, but always at the lower limit value (300-320 ms, QTc 365 ms), whereas the father had a normal ECG.

A plea was made not to limit the definition of short QT syndrome only to patients with the very short QT intervals in order to prevent under-diagnosis of some cases of this syndrome 3 cases (total # 21)

Short QT interval syndrome: a case report. Kirilmaz A, Ulusoy RE, Kardesoglu E, Ozmen N, Demiralp E. (Gulhane Military Medical Academy Haydarpasa Training Hospital, Istanbul, Turkey J Electrocardiol 2005;38:371-374

The first patient with SQTS in Turkey. A 20-year-old male presented with atrial fibrillation at an average HR of 54 bpm. and a QT interval of 308-340 msec. The patient was unable to point a specific time indicating the beginning of atrial fibrillation. On standard Bruce protocol stress test he achieved a maximal HR of 90 bpm in stage 4. EP study showed normal HV of 42 msec. VF was inducible by triplets from the RV where the effective refractory period was 130 msec at 400 msec drive cycle length. The patient remained in atrial fibrillation following defibrillation.

This case is very similar to the one presented by Hong et al (Ref. # 40) of a patient with atrial fibrillation detected in utero , slow HR and short QT. 1 case (total # 22)

De novo KCNQ1 mutation responsible for atrial fibrillation and Short QT Syndrome in utero Hong K, Piper DR, Diaz-Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R. (Masonic Medical Research Laboratory, Utica, NY . Cardiovasc Res 2005;68:433-440

The first description of a newborn with atrial fibrillation in the setting of SQTS diagnosed in utero and linked to a De Novo KCNQ1 mutation.The HR was 60 bpm and an EP study showed normal HV interval suggesting AV nodal block. DC cardioversion was unsuccessful.Genetic testing showed a missense mutation, G to A substitution at nucleotide 421 (g421a). This mutation results in substitution of valine by methionine at position 141 (V141M) adjacent to a previously described S140G mutation for familial AF.The mutation causes I_Ks channels to remain constitutively open leading to shortening of the action potential and tendency to atrial fibrillation._The unsuccessful attempt of cardioversion and slow HR suggest both sinus nodal and AV nodal disease.

1 case (total # 23)

Short QT syndrome: clinical findings and diagnostic-therapeutic implications. Giustetto C, Di Monte F, Wolpert C, Borggrefe M, Schimpf R, Sbragia P, Leone G, Maury P, Anttonen O, Haissaguerre M, Gaita F. Eur Heart Journal 2006;27:2440-2447

Multicenter European study of 29 patients with SQTS including 3 children with aborted SCD. Four families consisting of a total of 12 patients and 4 sporadic cases is presented for the first time 16 cases (total # 39)

Short QT Syndrome: A case report and review of literature. Lu LX, Zhou W, Zhang X, Cao Q, Yu K, Zhu C. Resuscitation 2007;71(1):115-121

3 cases (total # 42)

Short QT Syndrome – a case report. Sawicki S, Stadnicki W, Kuśnierz J, Kochmański M. Zespół skróconego odstępu QT (Kardiol Pol 2008;66(3):307312

2 cases (total # 44)

Fatal QT Interval

Fichet J, Genee O, Pierre B.. Am J Emergency Med 2008;26:739.e5-739.e6

1 case (total # 45)

Upper limits of QT/QTc intervals in the Short QT Syndrome. Review of the World-Wide Short QT Syndrome Population and 3 new USA families

Bjerregaard P, Collier JL, Gussak I. Heart Rhythm 2008;5(5S):AB43-4

8 cases (total # 53)

Short QT Syndrome in a Pediatric Patient

Villafane J, Young ML, Maury P, Wolpert C, Anttonen, Hamilton R, Kannereril PJ, Fischbach PS.. Pediatr Cardiol 2009

1 case (total # 54)

Clinical characteristics and treatment of a Chinese family with congenial short QT Syndrome Liu G, Guo JH, Zhang P, LI XB, Sun YX.. Zhinghua Xin Xue Guan Bing Za Zhi 2009;37(3):248-252

4 cases (total # 58)

High prevalence of early repolarization in short QT syndome.

Watanabe H, Makiyama T, Koyama T, Kannankeril PJ, Seto S, Okamura K, Oda H, Itoh H, Okada M, Tanabe N, Yagihara N, Kamakura S, Horie M, Heart Rhythm 2010;7:647-652

12 cases (total # 70)

Rapid genetic testing facilitating the diagnosis of short QT syndrome. Redpath CJ, Green MS, Birnie DH, Gollob MH. Can J Cardiol 2009;25(4):e133-e135

1 case (total # 71)

Long-term Follow-up of Patients with Short QT Syndrome**.**

Giustetto C, Schimpf R, Mazzanti A. Scrocco C, Maury P, Anttonen O, Probst V, Blanc J-J,Bragia P, Dalmasso P, Borggrefe M, Gaita F J Am Coll Cardiol 2011;58:587-595

A total of 53 patients from the European Short QT Registry followed up for 64 +/- 27 months.

Twenty patients had not been reported earlier.

20 cases (total # 91)

Novel Mechanism of KCNJ2-Related Short QT Syndrome

Ruan Y, Cerrone M, Novelli V, Liu N, Blaufox AD, Sicca F, Moro F, Pessia M, Napolitano C, Priori SG.. AHA Scientific Sessions 2011, Abstract 13462

3 cases (total # 94)

Nifekalant Enlarged the Transmural Activation-Recovery Interval Difference as Well as the Peaf-to End Interval on Surface ECG in a Patient with Short-QT Syndrome**.** Chinushi M, Sato A, Izumi D, Furushima H. J Cardiovasc Electrophysiol 2012;23:877-880

2 cases (total # 96)

A novel gain of function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents. Hattori T, Makiyama T, Akao M, Ehara E, Ohno S, Iguchi M, Nishio Y, Sasaki K, Itoh H, Yokode M, Kita T, Horie M, Kimura TCardiovasc Res 2012;93(4):666-673

An 8-year-old girl with a markedly short QT interval (QT/QTc = 172/194 ms) who suffered from paroxysmal AF was studied. Mutational analysis identified a novel heterozygous KCNJ2 mutation, M301K. Functional assays displayed no Kir2.1 currents when M301K channels were expressed alone. However, co-expression of wild-type (WT) with M301K resulted in larger outward currents than the WT at more than –30 mV. These results suggest a gain-of-function type modulation due to decreased inward rectification.

In addition to paroxysmal AF the girl had been suffering from multiple disorders, such as severe mental retardation, abnormal proliferation of oesophageal blood vessels, epilepsy, and Kawasaki disease. Her family did not undergo genetic evaluation but ECGs from her father, elder brother and a younger sister showed a normal QT in all of them.

1 case (total # 97)

Electrical Storm in Short-QT Syndrome Successfully Treated with Isoproterenol Bun S-S, Maury P, Giustetto C, Deharo J-C.. J cardiovasc Electrophysiol 2012;23(9):1028-1030

28-year old male admitted after episode of aborted cardiac death during sleep, with documented VF. ECG 6 years earlier had shown QT interval of 320 ms at 60 bpm (QTcB 320 msec). On admission the QT interval was 340 msec at 75 bpm (QTcB 383 msec). His mother also presented with SQTS by ECG (QT interval not provided). No mutations were found in KCNH2 or KCNQ1 genes.

2 cases (total # 99)

Long-Term Follow-Up of a Pediatric Cohort With Short QT Syndrome**.**

Villafañe J, Atallah J, Gollob MH, Maury P, Wolpert C, Gebauer R, Watanabe H, Horie M, Anttonen O, Kannankeril P, Faulkner B, Bleiz J, Makiyama T, Shimizu W, Hamilton RM, Young M-L JACC 2013;61:1183-1191

(FIRST 100 CASES OF SQTS) 5 cases (total # 104)

Short QT syndrome and idiopathic ventricular tachycardia in a 28-year-old young man: a potential disease-specific link?

Sadeghian S, Bozorgi A, Safkhani Z. EUROPACE 2014;16(!!):1645

1 case (total # 105)

Short QT Syndrome presenting as syncope: How short is too short?

Portugal G, Oliviera MM, Cunha PS, Ferreira F, Lousinha A, Fiarresga A, Nogueira da Silva, Ferreira RC._REV PORT CARDIOL,._2014;33(10):649

1 case (total # 106)

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism – epilepsy phenotype

Ambrosini E, Sicca F, Brignone MS et al. . _Human Molecular Genetic,_2014, 23(18), 4875-4886

2 cases (total # 108)

KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia Deo M, Ruan Y, Pandit SV, Shah K, Berenfeld O, Blaufox A, Cerrone M, Noujaim SF, Denegri M, Jalife J, Priori SG. PNAS 2013;110(11):4291-4296

A new mutation (E299V) in KCNJ2 was found in an 11-y-old boy with recurrent atrial fibrillation and mild LV dysfunction. The patients ECG showed extremely abbreviated QT interval of 200 ms at 60 bpm with merging of the QRS and peaked T waves. Holter recording showed paroxysmal AF with an average HR of 98 bpm and confirmed the presence of a short QT interval that failed to adapt to HR.

1 case (total # 109)

Sudden Cardiac Death and Short QT Syndrome Maria Licia Ribeiro Cury Pavao, Viviane Christina Ono, Elerson Arfelli, Marcus Vinicius Simoes. Jose Antonio Marin Neto, Andre Schmidt. _Arq Bras Cardiol :5(3):_2014

Short QT syndrome in a boy diagnosed on screening for heart disease

Suzuki Hiroshi, Satoshi Hoshina, Junichi Ozawa et. al. Pediatr Int 2014;56(5):774-776

Novel Insight Into the Natural History of Short QT Syndrome

Andrea Mazzanti, Ajita Kanthan, Nicola Monteforte et al. JACC 2014;63(13):1300-1308

Short QT and atrial fibrillation: A KCNQ1 mutation-specific disease. Late follow-up in three unrelated children Gergia Sarquella-Brugada, Oscar Campuzano, Anna Iglesias, Josefine Grueso, David J. Bradley, Gunter Kerst, Daniel Shmorhun, Josep Brugada, Ramon Brugada. HeartRhythm Case Rep 2015;1(4):193-197

Short QT Syndrome in a 14-year-old patient: The first pediatric case from Turkey Yakup Ergul, Isa Ozyilmaz, Sertac Hanadan Onan, Alper Guzeltas. Anatol J Cardiol 2015;15(7):590-591

Genotype-dependent differences in age manifestation and arrhythmia complications in short QT syndrome Harrell DT, Ashira Takashi, Ishikawa Taisuke, et al. Int, J, Cardiol. 2015;190:393-402

Short QT and atrial fibrillation: A KCNQ1 mutation-specific disease. Late follow-up in three unrelated children Sarquella-Brugada G. Campuzano O. Iglesias A. et al.Heart Rhythm Case Report 2015(1);193-197

The Lack of effect of Sotalol in short QT syndrome patients carrying the T6181 mutation in the KCNH2 gene Giustetto C, Scrocco C, Giachino D. et al. Heart Rhythm 2015;1:373-378

Sinus bradycardia, junctional rhythm, and low-rate atrial ffibrillation in Short QT syndrome during 20 years of follow-up:three faces of the same genetic problem Righi D, Silvetti MS, Drago F.Cardiology in the Young 2016;26:589-592

Structural Interplay of Kv7.1 and KCNE1 is essential for normal repolarization and is compromised in short QE syndrome 2 (Kv7.1-A287T) Rothenberg I, Piccini I, Wrobel E et al. Heart Rhythm 2016;2:521-529

The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome Dan Hu, Yiang Li, Lianchenh Zhang et al. JACC Clinical Physiology 2017;3:727-43

Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome Thorsen K, Dam VS, Kjaer-Sorensen K. et al. Nature Communications 2017;8:1696

Long-Term Follow-up of Patients with Short QT Syndrome: Clinical Profile and outcome. Ibrahim El-Battrawy, Johanne Besler, Volker Liebe, Rainer Schimpf, Erol Tulumen, Boris Rudic, Siegfred Lang, Christian Wolpert, Xiaobo Zhou, Ibrahim Akin, Martin Borggrefe. J Am Heart Assoc 2018 Dec 4; 7(23)

Sudden cardiac arrest during marathon training in a young adult with short T syndrome Daisuke Wakatsuki, Yoshitaka Isa, Hiroshi Mase, Nasaaki Kurata, Etsushi Kyuno, Hisa Shimojima, Taka Asano, Takeyuki Sambe, Hiroshi Suzuki. Int J Cardiol Heart Vasc. 2018 Mar; 18: 101-103

Multiple clinical profiles of families with the short QT syndromeAkdis D, Saguner AM, Medeiros-Domingo A. Europace 2018;20:113-121

Delayed diagnosis of short QT syndrome concealed by pacemaker implant due to sich sinus syndrome Ibrahim Basanci Anatol J Cardiol. 2020;23(2):111-113