Short QT syndrome historical perspective
Jump to navigation
Jump to search
To go back to the main page, click here.
|
Short QT syndrome Microchapters |
|
Diagnosis |
|---|
|
Case Studies |
|
Short QT syndrome historical perspective On the Web |
|
American Roentgen Ray Society Images of Short QT syndrome historical perspective |
|
Risk calculators and risk factors for Short QT syndrome historical perspective |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Sumanth Khadke, MD[2]}
Overview
The first evidence of Sudden cardiac death relating to decreased QT interval surfaced in year 1993[1]. The Short QT syndrome (SQTS) was first described by Dr. Prebe Bjerregaard MD, DMSc in 1999[2][3]. It was first identified in 1999 in a 17-year old patient who underwent laparoscopic cholecystectomy in Maryville,Illinois[2].In 2004, Among the first families to report SQTS, among them the German family and the Italian family had substitution mutation in the KCNH2 gene which substituted arginine for lysine at codon 588 in KCNH2 protein which coded for S5-P loop region of cardiac IKr channel HERG[4]. In 2004, Quinidine was found to be effective in treating SQTS syndrome and was used as first-line treatment in SQTS while Flecainide provides partial relief[5].In 2004, the first patient with Ventricular fibrillation with SQTS was treated with ICD placement[6]. In 2005, first evidence of fetal bradycardia due to SQTS was reported[7]. In 2007 and 2008 studies linked SQTS to SIDS[8].In 2011, the clinical guideline on diagnosing SQTS was established [9][10]. A "Schwartz score" was proposed to be instrumental in diagnosis SQTS [11].
Description of the First Patient with Short QT Syndrome
- Shalon Hill, a 17-year-old white female, underwent laparoscopic cholecystectomy at Anderson Hospital, Maryville, Illinois in 1999 which was complicated by atrial fibrillation with a rapid ventricular response (RVR) at 150-200 beats/min along with acute pulmonary edema[2][12]. The atrial fibrillation with RVR was treated with DC cardioversion and she was discharged to home in normal sinus rhythm on digoxin. The atrial fibrillation recurred 6 weeks later and she was found at that time to have a short QT interval of 225 mseconds unrelated to hypercalcemia, was treated with prophylactic therapy with propafenone[13]. She then remained asymptomatic for 6 months and the propafenone was discontinued. However, the atrial fibrillation recurred 2 months after the propafenone was discontinued, and it was therefore resumed. She remained asymptomatic on propafenone, but an AICD was implanted given reports from around the world of sudden cardiac death.
Description of the First Family with Short QT Syndrome
- EKGs of the first patient's family members were analyzed. The QT intervals of her 21 year old brother and her 84 year old maternal grandfather were 240 msecs each, and the QT interval of her 51 year old mother was 230 msec. The EKG of here father was normal[2][14].
- Her brother was asymptomatic, and on August 13, 2003 was found to have inducible ventricular fibrillation on programmed electrical stimulation. This was treated with implantation of an implantable cardioverter defibrillator. Subsequently, he complained of occasional palpitations and paroxysmal atrial fibrillation with a rapid ventricular response was noted on the interrogation of the ICD.
- Her mother is a 51-year-old healthy white female with a history of 3 episodes of sustained palpitations and paroxysmal atrial fibrillation. She has remained asymptomatic on propafenone since April 2003. Programmed electrical stimulation on September 29, 2003, induced both atrial and ventricular fibrillation and an AICD was implanted.
- Her maternal grandfather was an 84-year-old white male who had chronic atrial fibrillation, coronary artery disease and hypertension who died following an embolic stroke.The then cardiologists waited for a few years for another family to show such symptoms to investigate if this was a unique syndrome. The second case showed up after 3 years in 2003.
A high incidence of SCD described first in families with Short QT syndrome
- In the year 2003, the suspicion of a life-threatening cardiac syndrome grew when Dr. Fiorenzo Gaita presented a paper at the American College of Cardiology (ACC) originally written by Ospedale Mauriziano Umberto I from Torino, Italy. The research paper described 16 members from 5 generations with 6 sudden cardiac death victims including one and the other 2 additional family members with Short QT syndrome in an Italian family[15]. Dr. Gaita et. al publish a paper in Circulation journal describing 2 unrelated families having symptomatic Short QT syndrome. Family 1 with 2 adults and 1 child presented with a past medical history of syncope with palpitations. One case had resuscitated sudden death. The family history documented a series of sudden cardiac death pertinent to the past 4 generations. All of them revealed to have a Short QT interval never exceeding 280 msec (QTc- 290msec). An Electrophysiological study was performed with Flecainide administration to prolong the Effective refractory period and to rule out Brugada syndrome. Patient 1, a 35-year-old white man showed frequent isolated monomorphic ventricular extrasystoles with Left Axis Deviation morphology and Right Bundle Branch Block.QT interval was recorded in between 240-280 msec and QTc <280msec[16]. Patient 2, sister of patient 1, 31-year-old woman, also had Left axis deviation and QT interval between 220 to 250msec (QTc <290msec). Her Holter revealed isolated and monomorphic ventricular extra-systoles with the Right bundle branch block and left-axis deviation with variable coupling[16]. Patient 3 was the child of patient 2 who had a cardiac arrest at the age of 8 months after a loud noise-induced adrenergic stress. He was successfully resuscitated with DC shock but had severe cerebral hypoxia. The child QT interval ranged between 240-260msec, QTc <290msec. Structural heart disease was ruled out in all these 3 patients prior to Electrophysiological studies. An Automated Defibrillator (ICD) was implanted in both patients 1 and 2 [16]. The second family reported with syncope and palpitations with strong family history sudden cardiac death present in 3 generations. Three of the family members had a short QT interval from 270 msec (QTc- 300msec). The patients underwent electrophysiological studies using Flecainide and Holter studies as in the case of family 1. Patient 4, a 67-year-old woman with palpitations had ventricular and supra-ventricular extrasystoles and one episode of paroxysmal atrial fibrillation. ECG showed a QT interval of 270msec (QTc-295msec). Patient 5 was a 15-year-old nephew of patient 4 with syncopal episodes. He had a QT of 260msec (QTc-300msec). Patient 6 was a 40-year-old daughter of patient 4 was asymptomatic with a QT interval of 240 msec(QTc-268msec) on ECG.
Discovery
- In 1999, Short QT syndrome was first discovered by a United States-based doctor Dr.Preben Bjerregaard, MD, DMSc[17].
- In 2004, the Masonic medical research laboratory, Utica, New York was the first lab to report a genetic mutation linked to SQTS in the year 2004 [18].
- In 2004, Among the first families to report SQTS, The german family and the Italian family had substitution mutation in the KCNH2 gene which substituted arginine for lysine at codon 588 in KCNH2 protein which coded for S5-P loop region cardiac IKr channel HERG[19].
- In 2004, the first experimental model on SQTS which proved it is the cause of the life-threatening arrhythmia was conducted at the Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan[20].
- In 2005, the first report of SQTS presenting in a subset of patients as bradycardia in utero was documented[7].
- In 2007 and 2008, the first studies appeared which linked SQTS to Sudden Infant death syndrome [8][21].
- In 2011, first clinical guideline on diagnosing SQTS came into existence [9][10]. A "Schwartz score" was proposed to be instrumental in diagnosis SQTS [11].
Landmark Events in the Development of Treatment Strategies
- In 2004, Quinidine was found to be effective in treating SQTS syndrome and was deemed the first-line treatment in SQTS while Flecainide provides partial relief[5].
- In 2004, the First patient with Ventricular fibrillation with SQTS was treated with ICD placement[6].
Impact on Cultural History
Famous Cases
The following are a few famous cases of [disease name]:
References
- ↑ Algra A, Tijssen JG, Roelandt JR, Pool J, Lubsen J (1993). "QT interval variables from 24 hour electrocardiography and the two year risk of sudden death". Br Heart J. 70 (1): 43–8. doi:10.1136/hrt.70.1.43. PMC 1025227. PMID 8037997.
- ↑ 2.0 2.1 2.2 2.3 Gussak I, Brugada P, Brugada J, Wright RS, Kopecky SL, Chaitman BR, Bjerregaard P (2000). "Idiopathic short QT interval: a new clinical syndrome?". Cardiology. 94 (2): 99–102. doi:47299 Check
|doi=value (help). PMID 11173780. Retrieved 2012-09-03. - ↑ http://www.shortqtsyndrome.org/short_qt_history.htm
- ↑ http://www.shortqtsyndrome.org/short_qt_history.htm
- ↑ 5.0 5.1 Gaita F, Giustetto C, Bianchi F, Schimpf R, Haissaguerre M, Calò L; et al. (2004). "Short QT syndrome: pharmacological treatment". J Am Coll Cardiol. 43 (8): 1494–9. doi:10.1016/j.jacc.2004.02.034. PMID 15093889.
- ↑ 6.0 6.1 Schimpf R, Bauersfeld U, Gaita F, Wolpert C (2005). "Short QT syndrome: successful prevention of sudden cardiac death in an adolescent by implantable cardioverter-defibrillator treatment for primary prophylaxis". Heart Rhythm. 2 (4): 416–7. doi:10.1016/j.hrthm.2004.11.026. PMID 15851347.
- ↑ 7.0 7.1 Hong K, Piper DR, Diaz-Valdecantos A, Brugada J, Oliva A, Burashnikov E; et al. (2005). "De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero". Cardiovasc Res. 68 (3): 433–40. doi:10.1016/j.cardiores.2005.06.023. PMID 16109388.
- ↑ 8.0 8.1 Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C; et al. (2007). "Prevalence of long-QT syndrome gene variants in sudden infant death syndrome". Circulation. 115 (3): 361–7. doi:10.1161/CIRCULATIONAHA.106.658021. PMID 17210839.
- ↑ 9.0 9.1 Bjerregaard P (2011). "Proposed diagnostic criteria for short QT syndrome are badly founded". J Am Coll Cardiol. 58 (5): 549–50, author reply 550-1. doi:10.1016/j.jacc.2011.03.037. PMID 21777756.
- ↑ 10.0 10.1 Gollob MH, Redpath CJ, Roberts JD (2011). "The short QT syndrome: proposed diagnostic criteria". J Am Coll Cardiol. 57 (7): 802–12. doi:10.1016/j.jacc.2010.09.048. PMID 21310316.
- ↑ 11.0 11.1 Veltmann C, Borggrefe M (2011). "Arrhythmias: a 'Schwartz score' for short QT syndrome". Nat Rev Cardiol. 8 (5): 251–2. doi:10.1038/nrcardio.2011.51. PMID 21448139.
- ↑ http://www.shortqtsyndrome.org/short_qt_history.htm
- ↑ Bjerregaard P, Gussak I (2005). "Short QT syndrome". Ann Noninvasive Electrocardiol. 10 (4): 436–40. doi:10.1111/j.1542-474X.2005.00064.x. PMC 6932734 Check
|pmc=value (help). PMID 16255754. - ↑ http://www.shortqtsyndrome.org/short_qt_history.htm
- ↑ http://www.shortqtsyndrome.org/short_qt_history.htm
- ↑ 16.0 16.1 16.2 Gaita F, Giustetto C, Bianchi F, Wolpert C, Schimpf R, Riccardi R; et al. (2003). "Short QT Syndrome: a familial cause of sudden death". Circulation. 108 (8): 965–70. doi:10.1161/01.CIR.0000085071.28695.C4. PMID 12925462.
- ↑ http://www.shortqtsyndrome.org/short_qt_history.htm
- ↑ http://www.shortqtsyndrome.org/short_qt_history.htm
- ↑ http://www.shortqtsyndrome.org/short_qt_history.htm
- ↑ Schmoldt A, Benthe HF, Haberland G (1975). "Digitoxin metabolism by rat liver microsomes". Biochem Pharmacol. 24 (17): 1639–41. PMID https://doi.org/10.1152/ajpheart.00114.2004 Check
|pmid=value (help). - ↑ Rhodes TE, Abraham RL, Welch RC, Vanoye CG, Crotti L, Arnestad M; et al. (2008). "Cardiac potassium channel dysfunction in sudden infant death syndrome". J Mol Cell Cardiol. 44 (3): 571–81. doi:10.1016/j.yjmcc.2007.11.015. PMC 2386856. PMID 18222468.