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A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child
RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome induced by adrenergic stress. Due to the atypical clinical manifestations in early age, limited recognition and experience of pediatric cardiologists, and low awaren...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916663/ https://www.ncbi.nlm.nih.gov/pubmed/29668588 http://dx.doi.org/10.1097/MD.0000000000010368 |
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author | Duan, Hongyu Lu, Yongyi Yan, Song Qiao, Lina Hua, Yimin Li, Yifei Zhou, Kaiyu Wang, Chuan |
author_facet | Duan, Hongyu Lu, Yongyi Yan, Song Qiao, Lina Hua, Yimin Li, Yifei Zhou, Kaiyu Wang, Chuan |
author_sort | Duan, Hongyu |
collection | PubMed |
description | RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome induced by adrenergic stress. Due to the atypical clinical manifestations in early age, limited recognition and experience of pediatric cardiologists, and low awareness of the significance of genetic diagnosis in some underdeveloped areas in China, a delayed or missed diagnosis of CPVT in children is common and concerning. PATIENT CONCERNS: A 9-year and 3-month male child with recurrent exercise-induced syncope accompanied by convulsion was initially misdiagnosed as epilepsy since the first manifestation at the age of 3 years. Due to the identification of polymorphic ventricular premature beats, nonsustained ventricular tachycardia (VT), and supraventricular tachycardia, a cardiogenic etiology was established. The patient received a successive treatment by propafenone, amiodarone, a combination of amiodarone with metoprolol, and metoprolol alone for up to 6 years. DIAGNOSES: Given the poor response to conventional antiarrhythmics, excise-induced syncope, QRS morphology and a structurally normal heart, the diagnosis of CPVT was suspected, and ultimately confirmed by detection of polymorphic and bidirectional VT with degeneration into ventricular fibrillation during exercise testing. In addition, a heterozygous mutant of RYR2 at c.7580T > G was identified by genetic testing. INTERVENTIONS: Due to the unavailability of flecainide in China and the refusal of implantable cardioverter defibrillator implantation by his parents, this patient continued to be treated with oral metoprolol. OUTCOMES: Unfortunately, the effect was unfavorable during 4 months outpatient follow-up. LESSONS: CPVT should be suspected in young patients with a normal baseline electrocardiogram (EKG), a structurally normal heart and polymorphic and/or bidirectional ventricular tachycardia induced by exercise or emotional stress. Exercise and genetic testing is essential and significant for a timely and accurate diagnosis of CPVT. The current study firstly reported a case with CPVT associated with a mutant of RYR2 at c.7580T > G in children. |
format | Online Article Text |
id | pubmed-5916663 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-59166632018-05-01 A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child Duan, Hongyu Lu, Yongyi Yan, Song Qiao, Lina Hua, Yimin Li, Yifei Zhou, Kaiyu Wang, Chuan Medicine (Baltimore) 6200 RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome induced by adrenergic stress. Due to the atypical clinical manifestations in early age, limited recognition and experience of pediatric cardiologists, and low awareness of the significance of genetic diagnosis in some underdeveloped areas in China, a delayed or missed diagnosis of CPVT in children is common and concerning. PATIENT CONCERNS: A 9-year and 3-month male child with recurrent exercise-induced syncope accompanied by convulsion was initially misdiagnosed as epilepsy since the first manifestation at the age of 3 years. Due to the identification of polymorphic ventricular premature beats, nonsustained ventricular tachycardia (VT), and supraventricular tachycardia, a cardiogenic etiology was established. The patient received a successive treatment by propafenone, amiodarone, a combination of amiodarone with metoprolol, and metoprolol alone for up to 6 years. DIAGNOSES: Given the poor response to conventional antiarrhythmics, excise-induced syncope, QRS morphology and a structurally normal heart, the diagnosis of CPVT was suspected, and ultimately confirmed by detection of polymorphic and bidirectional VT with degeneration into ventricular fibrillation during exercise testing. In addition, a heterozygous mutant of RYR2 at c.7580T > G was identified by genetic testing. INTERVENTIONS: Due to the unavailability of flecainide in China and the refusal of implantable cardioverter defibrillator implantation by his parents, this patient continued to be treated with oral metoprolol. OUTCOMES: Unfortunately, the effect was unfavorable during 4 months outpatient follow-up. LESSONS: CPVT should be suspected in young patients with a normal baseline electrocardiogram (EKG), a structurally normal heart and polymorphic and/or bidirectional ventricular tachycardia induced by exercise or emotional stress. Exercise and genetic testing is essential and significant for a timely and accurate diagnosis of CPVT. The current study firstly reported a case with CPVT associated with a mutant of RYR2 at c.7580T > G in children. Wolters Kluwer Health 2018-04-20 /pmc/articles/PMC5916663/ /pubmed/29668588 http://dx.doi.org/10.1097/MD.0000000000010368 Text en Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 |
spellingShingle | 6200 Duan, Hongyu Lu, Yongyi Yan, Song Qiao, Lina Hua, Yimin Li, Yifei Zhou, Kaiyu Wang, Chuan A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child |
title | A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child |
title_full | A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child |
title_fullStr | A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child |
title_full_unstemmed | A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child |
title_short | A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child |
title_sort | delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of ryr2 at c.7580t>g for 6 years in a 9-year-old child |
topic | 6200 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916663/ https://www.ncbi.nlm.nih.gov/pubmed/29668588 http://dx.doi.org/10.1097/MD.0000000000010368 |
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