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Catecholaminergic polymorphic ventricular tachycardia 1(VTSIP; CPVT1)

MedGen UID:
351513
Concept ID:
C1631597
Disease or Syndrome
Synonyms: RYR2-Related Catecholaminergic Polymorphic Ventricular Tachycardia; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
 
Genes (locations): CASQ2 (1p13.1); RYR2 (1q43); TRDN (6q22.31)
 
Monarch Initiative: MONDO:0011484
OMIM®: 604772

Disease characteristics

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease. [from GeneReviews]
Authors:
Carlo Napolitano  |  Andrea Mazzanti  |  Raffaella Bloise, et. al.   view full author information

Additional descriptions

From OMIM
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized by a reproducible form of polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion, which can deteriorate into ventricular fibrillation. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. Typically, clinical cardiologic examinations, such as baseline ECG and echocardiogram, reveal mostly normal findings, and postmortem examinations, when carried out, have not disclosed any significant morphologic alterations in the fine structure of the heart, with the exception of mild fatty myocardial infiltration in a few patients. The hallmark of CPVT comprises ventricular arrhythmias of varying morphology not present under resting conditions but appearing only with physical exercise, excitement, or catecholamine administration. These arrhythmias are first seen as ventricular premature complexes, later in bigeminy, followed by bidirectional or polymorphic ventricular tachycardia, which eventually leads to ventricular fibrillation. CPVT can be inherited as an autosomal dominant or recessive trait. Clinical penetrance in this disease ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years. Beta-blockers without sympathomimetic activity are clinically effective in the reduction of syncope, but implantation of an automatic internal defibrillator is occasionally needed in these patients (summary by Bhuiyan et al., 2007). Genetic Heterogeneity of Catecholaminergic Polymorphic Ventricular Tachycardia Also see CPVT2 (611938), caused by mutation in the CASQ2 gene (114251) on chromosome 1p13; CPVT3 (614021), caused by mutation in the TECRL gene (617242) on chromosome 4q13; CPVT4 (614916), caused by mutation in the CALM1 gene (114180) on chromosome 14q32; CPVT5 (615441) is caused by mutation in the TRDN gene (603283) on chromosome 6q22; and CPVT6 (see 618782) is caused by mutation in the CALM3 gene (114183) on chromosome 19q13.  http://www.omim.org/entry/604772
From MedlinePlus Genetics
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.

If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.  https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Atrioventricular block
MedGen UID:
13956
Concept ID:
C0004245
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Sick sinus syndrome
MedGen UID:
20749
Concept ID:
C0037052
Disease or Syndrome
An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Paroxysmal atrial fibrillation
MedGen UID:
115990
Concept ID:
C0235480
Disease or Syndrome
Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
Ventricular couplet
MedGen UID:
452515
Concept ID:
C0429001
Finding
Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.
Atrial standstill
MedGen UID:
639047
Concept ID:
C0541782
Pathologic Function
Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.
Bidirectional tachycardia
MedGen UID:
418944
Concept ID:
C2930902
Disease or Syndrome
Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.
Reduced systolic function
MedGen UID:
870560
Concept ID:
C4025008
Finding
Effort-induced polymorphic ventricular tachycardia
MedGen UID:
870838
Concept ID:
C4025298
Finding
Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

Professional guidelines

PubMed

Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MM, Wilde AA, Ackerman MJ
J Am Coll Cardiol 2009 Nov 24;54(22):2065-74. doi: 10.1016/j.jacc.2009.08.022. PMID: 19926015Free PMC Article
Tester DJ, Kopplin LJ, Will ML, Ackerman MJ
Heart Rhythm 2005 Oct;2(10):1099-105. doi: 10.1016/j.hrthm.2005.07.012. PMID: 16188589

Suggested Reading

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Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C; Document Reviewers, Ackerman M, Belhassen B, Estes NA 3rd, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC; Heart Rhythm Society; European Heart Rhythm Association; Asia Pacific Heart Rhythm Society
Europace 2013 Oct;15(10):1389-406. Epub 2013 Aug 30 doi: 10.1093/europace/eut272. PMID: 23994779

Recent clinical studies

Etiology

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JACC Clin Electrophysiol 2019 Mar;5(3):387-394. Epub 2018 Dec 26 doi: 10.1016/j.jacep.2018.10.019. PMID: 30898243
Francis J, Sankar V, Nair VK, Priori SG
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Diagnosis

Shen L, Liu S, Hu F, Zhang Z, Li J, Lai Z, Zheng L, Yao Y
J Am Heart Assoc 2023 Dec 19;12(24):e031768. Epub 2023 Dec 8 doi: 10.1161/JAHA.123.031768. PMID: 38063176Free PMC Article
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Liu N, Ruan Y, Priori SG
Prog Cardiovasc Dis 2008 Jul-Aug;51(1):23-30. doi: 10.1016/j.pcad.2007.10.005. PMID: 18634915

Therapy

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Prognosis

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Clinical prediction guides

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Recent systematic reviews

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