Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia

Kozlovski, Jennifer; Ingles, Jodie; Connell, V.; Hunt, Lauren; McGaughran, Julie; Turner, Christian; Davis, Andrew M.; Sy, Raymond W.; Semsarian, Christopher

doi:10.1016/j.ijcard.2014.08.020

Cited by 21 publications

(21 citation statements)

References 13 publications

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“…In CPVT, ECG at rest usually shows no abnormalities except for sinus bradycardia . These ECG characteristics differ from those of long QT syndrome or Brugada syndrome, which show distinct abnormalities . Therefore, CPVT should be suspected in pediatric patients with recurrent syncope or cardiac arrest during exercise, whose ECG at rest shows sinus bradycardia without QT prolongation.…”

Section: Discussionmentioning

confidence: 99%

“…The exercise stress test in CPVT frequently shows polymorphic PVC and bidirectional VT, which sometimes degenerate into VF . Exercise stress or Holter ECG, however, do not always indicate ventricular arrhythmia, and repeated examinations may be necessary .…”

Section: Discussionmentioning

confidence: 99%

“…Because of the repeated syncope and the absence of electrocardiogram (ECG) abnormalities at rest, patients are often misdiagnosed with orthostatic dysregulation or epilepsy . Treatment for CPVT includes drug treatment, restriction of strenuous exercise, left sympathetic denervation, and cardioverter defibrillator implantation . We here report a case of 11‐ and 15‐year‐old sisters with CPVT who had been diagnosed with and treated for orthostatic dysregulation and epilepsy, respectively.…”

mentioning

confidence: 98%

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a hereditary arrhythmia manifesting as syncope from childhood with a poor prognosis and the potential for sudden death . In this syndrome, ventricular tachycardia/fibrillation (VT/VF) are induced by increased catecholamine secretion due to exercise or emotional stress.…”

mentioning

confidence: 99%

“…In this syndrome, ventricular tachycardia/fibrillation (VT/VF) are induced by increased catecholamine secretion due to exercise or emotional stress. Because of the repeated syncope and the absence of electrocardiogram (ECG) abnormalities at rest, patients are often misdiagnosed with orthostatic dysregulation or epilepsy . Treatment for CPVT includes drug treatment, restriction of strenuous exercise, left sympathetic denervation, and cardioverter defibrillator implantation .…”

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Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11‐ and 15‐year‐old sisters

Fujita

Nishida

Irabu

et al. 2018

Pediatrics International

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We describe an 11-year-old girl with frequent syncope during exercise and emotional stress since the age of 10. There were no abnormalities in the 12-lead electrocardiogram, brain computed tomography, magnetic resonance imaging, or electroencephalogram at rest. She was first diagnosed with orthostatic dysregulation, but Holter electrocardiogram revealed polymorphic premature ventricular contractions (PVCs) during exercise. Treadmill exercise stress test induced a bidirectional ventricular tachycardia, which degenerated into ventricular fibrillation approximately 20 seconds after the first PVC appeared. The patient was diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) and started with oral administration of beta blockers (propranolol 20mg/day). Because of syncope during exercise her elder sister was also treated as epilepsy, treadmill exercise stress test showed frequent polymorphic PVC. Genetic testing revealed a heterozygous RYR2 mutation in these symptomatic sisters and their asymptomatic father. Beta blocker and exercise restriction prevented her ventricular tachycardias. This article is protected by copyright. All rights reserved.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 98%

mentioning

confidence: 99%

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confidence: 99%

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