At present, cardiologists who are experts in inherited rhythm disorders do not have optimal risk stratification tools or effective interventions for CPVT. [era-learn.eu]

Patients with CPVT often present with exercise or emotion induced syncope, the first presentation may also be sudden cardiac death. • In addition to avoidance of triggers, treatment with beta blockers is the mainstay of therapy. [journals.elsevier.com]

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

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]

Later, the patient presented to us for a second opinion. We diagnosed the patient with CPVT, started him on a beta-blocker, and identified the disease-causing mutation in the RYR2 gene. [ntvg.nl]

• Asymptomatic

  (exercise) − 60 90 400 105 Polymorphic VT Asymptomatic, 192 6 10 8 M Syncope (exercise) + 55 30 380 120 Polymorphic VT Asymptomatic, 180 7 13 10 F Syncope (exercise) + 55 −30 380 130 Polymorphic VT Asymptomatic, 144 8 6.5 4 M Syncope (exercise) − 60 [ahajournals.org]

  The first patient was asymptomatic, but had a family history suggestive of CPVT. The second patient had typical symptoms of CPVT. [ntvg.nl]

  This update follows the previously published “Guidelines for the Diagnosis and Management of CPVT”[1] The key points of difference are Genetic testing has become more significant Asymptomatic carriers of CPVT should be treated Recent studies show treatment [journals.elsevier.com]

• Weakness

  Andersen ED, Krasilnikoff PA, Overvad H: Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta Paediatr Scand 1971;60:559-564. Tanaka Y, Kawabata M, Scheinman MM, Hirao K. [karger.com]

  Indeed, the impressive correlation between specific mutations and critical alterations in the ionic control... more Summary A description is given of an eight-year-old boy with extrasystoles, seizures of muscular weakness, and multiple developmental anomalies [scinapse.io]

   Skeletal muscle weakness is an associated feature of this CPVT form.  Mutations in the gene encoding the potassium inwardly rectifying channel Kir2.1 (KCNJ2), which generally are associated with Andersen-Tawil syndrome, may cause a CPVT phenocopy [slideshare.net]

  […] of the limbs, particularly of the legs.[3] If the ischemia is intense or prolonged, limb weakness progresses to collapse.[3] The weakness of the legs causes most people to sit or lie down if there is time to do so. [en.wikipedia.org]

• Congestive Heart Failure

  Beta blockers are known primarily for their reductive effect on heart rate, although this is not the only mechanism of action of importance in congestive heart failure. [en.wikipedia.org]

  renal failure, myocardial infarction, congestive heart failure, abdominal pain, nausea, vomiting, dyspnoea, tachycardia and Stevens-Johnson syndrome bg Иронията е, че убежищата са построени да пазят хората в безопасност en In healthy young subjects, [bg.glosbe.com]

  Amiodarone or an implantable cardioverter-defibrillator for congestive heart failure. N Engl J Med. 2005;352(3):225-37. 15. Levy WC, Lee KL, Hellkamp AS, et al. [graduo.ro]

  Lastly, an altered phosphorylation of the RyR2 protein may be involved in some forms of congestive heart failure [4]. [wikigenes.org]

  heart failure, baseline QT prolongation, subclinical LQTS, and ion-channel polymorphisms.11 Torsades de pointes often occurs with underlying hypokalemia and bradycardia, as in the first case. [radcliffecardiology.com]

• Collapse

  If you are with someone when they collapse suddenly, it is imperative to call 999 and try to perform cardio-pulmonary resuscitation (CPR) until an ambulance or medical help arrives. [bhf.org.uk]

  Therefore, CPVT can be difficult to diagnose, and sometimes the episodes of collapse can be mistaken for other conditions. Additional tests are often needed to diagnose CPVT. [schn.health.nsw.gov.au]

  In 1990 the American college football player Hank Gathers suddenly collapsed and died during a televised intercollegiate basketball game.[42] He had previously collapsed during a game a few months prior. [en.wikipedia.org]

• Unconsciousness

  Around the same time, the patient began an exercise routine and had one episode of lightheadedness followed by a brief episode of unconsciousness at home. The patient’s only known history is hypertension. [eplabdigest.com]

  Unconsciousness lasted about a minute, and some convulsive movements were observed in the legs. The boy recovered spontaneously and completely. There was no known preceding trauma, infection or intoxication. [link.springer.com]

  Possible complications include: Inability of the heart to pump enough blood (heart failure) Frequent fainting spells or unconsciousness Sudden death caused by cardiac arrest Prevention The most effective way to prevent ventricular tachycardia is to reduce [mayoclinic.org]

  Paroxysmal tachycardia with episodic unconsciousness. Arch Dis Child.1962; 37:82-85. CrossrefMedlineGoogle Scholar 11 Wennewold A, Melchior JC, Sandoe E. [ahajournals.org]

• Nausea

  […] tachycardia en Warning signs of fluid or electrolyte imbalance are dryness of mouth, thirst, asthenia, lethargy, drowsiness, restlessness, muscle pain or cramps, muscular fatigue, hypotension, oliguria, tachycardia, and gastrointestinal disturbances such as nausea [bg.glosbe.com]

  Also, a precipitating event is usually present, commonly pain, injury, nausea, or an unpleasant or stressful experience. [sads.org]

  Other side effects include dizziness (3.3%), nausea (2.7%), low blood pressure (2.5%), and headache 2.2%. [en.wikipedia.org]

• Vomiting

  […] en The most prominent manifestations of telmisartan overdose werehypotension and tachycardia; bradycardia, dizziness, vomiting, increase in serum creatinine, and acute renal failure have also been reported bg Момчета, Харт е в съблекалнята! [bg.glosbe.com]

  […] spontaneous recovery.[1] It is caused by a decrease in blood flow to the brain, typically from low blood pressure.[1] There are sometimes symptoms before the loss of consciousness such as lightheadedness, sweating, pale skin, blurred vision, nausea, vomiting [en.wikipedia.org]

• Heart Disease

  Although ventricular tachyarrhythmias in the absence of structural heart disease are benign, some arrhythmias must be clearly recognized as life threatening. [scielo.br]

  disease and high incidence of sudden cardiac death. [austinpublishinggroup.com]

  […] and overt structural heart disease, present in 5%-10% of cardiac arrest survivors. [scinapse.io]

  In the absence of structural heart disease, several entities have been identified. [ahajournals.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]

  She had been evaluated by several specialists in the past because of several emotion- and exercise-induced syncopal episodes from the age of ten. Her family history was unremarkable. [ntvg.nl]

  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]

• Ventricular Bigeminy

  CD, implantable cardioverter defibrillator; Dobl vent, ventricular doublets; m, month; NE, not evaluated; NSVT, nonsustained ventricular tachycardia; SD, sudden death; Vent big, ventricular bigeminy; Dobl vent, ventricular doublets; VEs, ventricular extrasystoles [revespcardiol.org]

  Ventricular bigeminy during phenylephrine infusion used to maintain normotension during caesarean section under spinal anaesthesia.Int J Obstet Anesth. 2007 Jul;16(3):288-290. [Online].; 2007 [cited 2015 Jul 1. [revista-portalesmedicos.com]

  The ECG during exercise stress test revealed multifocal PVCs when the sinus rate exceeded 130 bpm, followed by ventricular bigeminy and ventricular couplets (Fig. 1 ). After cessation of exercise, PVCs disappeared. [link.springer.com]

  This may develop over a period of weeks to years and may resolve with successful suppression of the VT. [19] A similar course is occasionally seen in patients with frequent premature ventricular contractions or ventricular bigeminy, despite the absence [emedicine.medscape.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]

In the presented case all the patients received a thorough diagnostic workup to exclude structural heart disease. [scinapse.io]

(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]

• Ventricular Bigeminy

  CD, implantable cardioverter defibrillator; Dobl vent, ventricular doublets; m, month; NE, not evaluated; NSVT, nonsustained ventricular tachycardia; SD, sudden death; Vent big, ventricular bigeminy; Dobl vent, ventricular doublets; VEs, ventricular extrasystoles [revespcardiol.org]

  Ventricular bigeminy during phenylephrine infusion used to maintain normotension during caesarean section under spinal anaesthesia.Int J Obstet Anesth. 2007 Jul;16(3):288-290. [Online].; 2007 [cited 2015 Jul 1. [revista-portalesmedicos.com]

  The ECG during exercise stress test revealed multifocal PVCs when the sinus rate exceeded 130 bpm, followed by ventricular bigeminy and ventricular couplets (Fig. 1 ). After cessation of exercise, PVCs disappeared. [link.springer.com]

  This may develop over a period of weeks to years and may resolve with successful suppression of the VT. [19] A similar course is occasionally seen in patients with frequent premature ventricular contractions or ventricular bigeminy, despite the absence [emedicine.medscape.com]

What are the treatment options for CPVT? There are several treatments for CPVT. Your child’s exact course of treatment will be based on the rate or severity of his or her arrhythmia. [childrenshospital.org]

The proband was implanted with a defibrillator due to presyncope with nonsustained ventricular tachycardia during the EST, despite maximum treatment with beta-blockers (before starting the use of the flecainide treatment in this clinical context 1 ). [revespcardiol.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]

Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2007 ;4: 675 - 678 11. Mohamed U, Gollob MH, Gow RM, Krahn AD. [nejm.org]

• In addition to avoidance of triggers, treatment with beta blockers is the mainstay of therapy. [journals.elsevier.com]

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

CONCLUSIONS: CPVT may arise in certain distinct areas but the prognosis is poor. The onset of CPVT may be an indication for an implanted cardioverter-defibrillator. [ncbi.nlm.nih.gov]

The aim of this article is to offer a perspective on molecular genetics, disease pathogenesis, clinical and genetic diagnosis, therapeutic strategies, and prognosis in CPVT. [heart.bmj.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]

| Death, Sudden, Cardiac - etiology | Young Adult | Heart Defects, Congenital - complications | Survival Analysis | Biomarkers | Adult | Female | Arrhythmias, Cardiac - diagnosis | Heart Defects, Congenital - mortality | Heart Defects, Congenital - therapy [query.library.utoronto.ca]

IV beta-blockers is considered first choice, similar to VTach storm of other etiologies. Given that it is Polymorphic VTach, it would also be reasonable to administer Magnesium, but this would be aimed at possible Prolonged QTc. [pedemmorsels.com]

This disorder was first described in 1975,1 and its symptoms are usually syncopal episodes triggered by exercise or emotional stress resembling those observed in LQT syndrome.2 The etiological background for the disorder has been described to be the uncontrolled [scinapse.io]

Physicians must remain vigilant and consider LQTS as a possible etiology in patients with a history of syncope. [radcliffecardiology.com]

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]

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]

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

For the last 15 years, significant progress has been made in our understanding of genetic, pathophysiological, and clinical aspects of CPVT. [heart.bmj.com]

BACKGROUND: The pathophysiological background of catecholaminergic polymorphic ventricular tachycardia is well understood, but the clinical features of this stress-induced arrhythmic disorder, especially the incidence and risk factors of arrhythmic events [scinapse.io]

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]

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

Preserving the upper half of the stellate ganglion prevents the occurrence of Horner's syndrome. [nejm.org]

The overall objective of this CPVT research program is to develop an effective strategy for rationalizing therapies based on an individual’s risk profile, thereby reducing morbidity and preventing SCD. [era-learn.eu]

Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart. 2003 Jan;89(1):66-70. [en.ecgpedia.org]