Second ED Presentation The patient presented to the ED again 5 days later : After moderate exercise, he presented in acute distress at a heart rate of 180, but with fewer perfused beats. Here are his ECGs: Wide complex tachycardia. [hqmeded-ecg.blogspot.com]

[…] clinical presentation of sudden death or aborted cardiac arrest. [cohesionphenomics.com]

Nongenotyped CPVT probands are predominantly women and present later in life. [acc.org]

Furthermore, a positive family history of sudden death in relatives younger than age 40 year is present in approximately 30% of patients with CPVT 5. CPVT is a disease with a strong genetic background. [centogene.com]

• Cheyne-Stokes Respiration

  27年後に再弁置換術を施行した1例　心臓　2017;49:1241-1247 山口展寛　重症不整脈の診断と治療　宮城県医師会会報　2017;859:544-547 学会発表、講演 平成22年 木村義隆、池田尚平、田丸貴規、尾上紀子、田中光昭、石塚豪、篠崎毅　閉塞性肥大型心筋症に対し僧帽弁置換術を行い左室流出路圧較差の改善を認めたにもかかわらず、心不全のコントロールに苦慮した1剖検例　第190回日本内科学会東北地方会 2010/2/20　仙台 池田尚平、田丸貴規、尾上紀子、田中光昭、石塚豪、篠崎毅　Cheyne-Stokes [nsmc.hosp.go.jp]

• Proximal Muscle Weakness

  An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness is TRDN (Triadin). Related phenotypes are coma and proximal muscle weakness [malacards.org]

• Exercise-Induced Syncope

  Patient 2 attended the clinic as an 11-year-old boy with exercise-induced syncope. The results of all conventional tests were normal, and therefore an implantable Holter device was deployed and polymorphic VT was detected. [revespcardiol.org]

  The S616L mutation (Figure 3B ) occurred in a female adolescent with exercise-induced syncopal spells since the age of twelve. [bmcmedgenet.biomedcentral.com]

  In 50% of our RYR2 probands exercise induced syncopal episodes were accompanied by seizures, which were probably convulsive movements owing to pan-cerebral hypoperfusion. [jmg.bmj.com]

This diagnostic workup included genetic testing. In this respect, patients 2 and 3 were of particular interest. Patient 2 attended the clinic as an 11-year-old boy with exercise-induced syncope. [revespcardiol.org]

Further diagnostic workup included coronary angiography and electrophysiological testing, but none of those resulted in any relevant finding. [jmedicalcasereports.biomedcentral.com]

(See Workup ). Accelerated idioventricular rhythm, sometimes termed slow VT, is a variant of VT that produces a rate of 60-120 beats/min. [emedicine.medscape.com]

[…] dehydration, while low blood oxygen levels may be seen following the event in those with pulmonary embolism.[1] Routine broad panel laboratory testing detects abnormalities in <2-3% of results and is therefore not recommended.[14] Based on this initial workup [en.wikipedia.org]

Management and treatment Beta blockers (nadolol and propranolol) are the first treatment option for patients with CPVT and the maximum tolerated dose should be administered to control arrhythmias. [orpha.net]

In an emergency, treatment for ventricular tachycardia may include: CPR electrical defibrillation electric shock antiarrhythmic medication Long-term treatment may include oral antiarrhythmic medication. [healthline.com]

We never had to discuss nonmedical treatment such as an implantable cardioverter-defibrillator because of the efficacy of β-blocker treatment in patients with an adequate medical follow-up. [ahajournals.org]

Prognosis Although CPVT is a severe and often deadly disease, early diagnosis and proper treatment can greatly increase life expectancy. [orpha.net]

Prognosis The prognosis in patients with ventricular tachycardia (VT) varies with the specific cardiac process, but it is predicted best by left ventricular function. [emedicine.medscape.com]

Prognosis – Genotype-phenotype relationships have been established in some forms of cardiac disease. [gps.wustl.edu]

Mansourati Clinical aspects and prognosis of Brugada syndrome in childre Circulatio, 115 (2007), pp. 2042-2048 [30.] J.R. Skinner, S.K. Chung, C.A. Nel, A.N. Shelling, J.R. Crawford, N. [apcontinuada.com]

Etiology The two genes responsible for CPVT that have been discovered to date, are the cardiac ryanodine receptor ( RyR2 ) gene, which is the cause of CPVT in approximately 55% to 65% of cases, and the cardiac calsequestrin gene ( CASQ2 ), seen much less [orpha.net]

[…] in the literature that I could find; the ACC/AHA guidelines on dysrhythmias have not, apparently, been updated since last published in 2006 ): If it is a child with his/her first presentation, you may be presented only with polymorphic VT of unknown etiology [hqmeded-ecg.blogspot.com]

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review 2010 Udgivet Incidence and etiology of sports-related sudden cardiac death in Denmark--implications for preparticipation screening Holst, A. G., Winkel, B. [research.regionh.dk]

(See Etiology .) VT can be classified as sustained or nonsustained, with a generally accepted cutoff of 30 seconds. VT is further classified according to the electrocardiographic (ECG) appearance. [emedicine.medscape.com]

Advertisers Author Reprints Commercial Reprints Customer Service and Ordering Information Subscribe to AHA Journals All Issues Subjects All Subjects Arrhythmia and Electrophysiology Basic, Translational, and Clinical Research Critical Care and Resuscitation Epidemiology [circ.ahajournals.org]

Summary Epidemiology The prevalence of CPVT in Europe is 1/10,000. Clinical description Typical age of onset of CPVT is between 7 and 9 years of age with no sex difference. [orpha.net]

"Epidemiological studies on syncope--a register based approach". Danish Medical Journal. 60 (8): B4702. [en.wikipedia.org]

In the last decade, genetic testing and our understanding of the mechanisms of arrhythmogenesis has significantly improved, novel antiarrhythmic drug strategies have emerged, more epidemiological experience with athletes with inherited channelopathies [acc.org]

Despite recent advances in genetics, pathophysiology, and clinical characteristics of CPVT, further research in unraveling molecular basis and clinical translation should be performed. [heraldopenaccess.us]

The pathophysiology of CASQ2-related CPVT may be related to the loss of calcium buffering capability, and indirect destabilization of the RyR channel opening process. [centogene.com]

The present study provides additional support for the pathophysiologic role of the RYR2 channel in CPVT. [nature.com]

The pathophysiology of CPVT is very different from Long QT syndrome. CPVT, unlike Torsade, is worsened with tachycardia. See this post for management of Torsade. [hqmeded-ecg.blogspot.com]

Implantable cardioverter defibrillators (ICDs) are used for prevention of sudden death in patients with CPVT. [austinpublishinggroup.com]

For polymorphic VT due to acquired long QT (Torsade de Pointe), isoproterenol is indicated to increase the sinus rate and prevent further torsade. However, this makes CPVT worse. [hqmeded-ecg.blogspot.com]

Professor Drezner is a leading authority on the role of the automatic external defibrillator in preventing sudden cardiac death. [books.google.com]

Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death). [acc.org]