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==Description of the First Patient with Short QT Syndrome== | ==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]]<ref name="pmid11173780">{{cite journal | author = Gussak I, Brugada P, Brugada J, Wright RS, Kopecky SL, Chaitman BR, Bjerregaard P | title = Idiopathic short QT interval: a new clinical syndrome? | journal = [[Cardiology]] | volume = 94 | issue = 2 | pages = 99–102 | year = 2000 | pmid = 11173780 | doi = 47299 | url = http://content.karger.com/produktedb/produkte.asp?DOI=47299 | issn = | accessdate = 2012-09-03}}</ref><ref>http://www.shortqtsyndrome.org/short_qt_history.htm</ref>. The atrial | 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]]<ref name="pmid11173780">{{cite journal | author = Gussak I, Brugada P, Brugada J, Wright RS, Kopecky SL, Chaitman BR, Bjerregaard P | title = Idiopathic short QT interval: a new clinical syndrome? | journal = [[Cardiology]] | volume = 94 | issue = 2 | pages = 99–102 | year = 2000 | pmid = 11173780 | doi = 47299 | url = http://content.karger.com/produktedb/produkte.asp?DOI=47299 | issn = | accessdate = 2012-09-03}}</ref><ref>http://www.shortqtsyndrome.org/short_qt_history.htm</ref>. 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]]<ref name="pmid16255754">{{cite journal| author=Bjerregaard P, Gussak I| title=Short QT syndrome. | journal=Ann Noninvasive Electrocardiol | year= 2005 | volume= 10 | issue= 4 | pages= 436-40 | pmid=16255754 | doi=10.1111/j.1542-474X.2005.00064.x | pmc=6932734 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16255754 }} </ref>. 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== | ==Description of the First Family with Short QT Syndrome== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
The syndrome was first described by Dr. Prebe Bjerregaard MD, DMSc in 1999[1][2].
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[1][3]. 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[4]. 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 interval of her 21 year old brother was 240 msec, the QT interval of her 84 year old maternal grandfather was 240 msec, and the QT interval of her 51 year old mother was 230 msec. The EKG of here father was normal[1][5].
He 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 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.
Discovery
- There is limited information about the historical perspective of [disease name].
OR
- [Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].
- The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
- In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
- In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].
Landmark Events in the Development of Treatment Strategies
Impact on Cultural History
Famous Cases
The following are a few famous cases of [disease name]:
References
- ↑ 1.0 1.1 1.2 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
- ↑ 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