Kimberly R Ding, Angelo L de la Rosa, Duc Do, Sonia U. Shah
{"title":"儿茶酚胺能多态性室性心动过速伴不常见的 CALM2 基因突变的罕见病例报告","authors":"Kimberly R Ding, Angelo L de la Rosa, Duc Do, Sonia U. Shah","doi":"10.1093/ehjcr/ytae340","DOIUrl":null,"url":null,"abstract":"\n \n \n Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a primary arrhythmia disorder characterized by syncope or sudden cardiac death and typically caused by a gain-of-function of the Ryanodine Receptor Type 2 (RyR2) mutation. Calmodulin is a calcium-binding protein responsible for many intracellular signaling pathways and disruptions in function or regulation may lead to potentially fatal arrhythmias. We present a case of a young patient with CPVT found to have an unusual, potentially causative, Calmodulin 2- a protein coding gene (CALM2) mutation.\n \n \n \n A 21-year-old female with autism was brought to the ED following cardiac arrest. Bidirectional ventricular tachycardia (VT) was captured on electrocardiogram (ECG). Propranolol was initiated and patient had no further episodes of ventricular arrhythmia. A subcutaneous implantable cardioverter defibrillator (ICD) was implanted and further genetics testing was done. Rapid Whole Genome Sequencing PGnome®- RAPID) resulted heterozygous variant of uncertain significance in CALM2 gene NM_001743.5 for variant c.136G>A.\n \n \n \n To the authors’ knowledge, this is the third known record of such mutation in accordance with the International Calmodulin Registry (n=74). Identification of CALM mutations can help advance the understanding of genetic underpinnings of arrhythmias and underscore necessity of genetic screening and personalized treatment strategies. Subcutaneous ICDs offer a promising therapeutic option while minimizing risks associated with traditional transvenous ICDs.\n","PeriodicalId":507701,"journal":{"name":"European Heart Journal - Case Reports","volume":"73 8","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Rare Case Report of Catecholaminergic Polymorphic Ventricular Tachycardia with an Uncommon CALM2 Mutation\",\"authors\":\"Kimberly R Ding, Angelo L de la Rosa, Duc Do, Sonia U. Shah\",\"doi\":\"10.1093/ehjcr/ytae340\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\\n \\n \\n Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a primary arrhythmia disorder characterized by syncope or sudden cardiac death and typically caused by a gain-of-function of the Ryanodine Receptor Type 2 (RyR2) mutation. Calmodulin is a calcium-binding protein responsible for many intracellular signaling pathways and disruptions in function or regulation may lead to potentially fatal arrhythmias. We present a case of a young patient with CPVT found to have an unusual, potentially causative, Calmodulin 2- a protein coding gene (CALM2) mutation.\\n \\n \\n \\n A 21-year-old female with autism was brought to the ED following cardiac arrest. Bidirectional ventricular tachycardia (VT) was captured on electrocardiogram (ECG). Propranolol was initiated and patient had no further episodes of ventricular arrhythmia. A subcutaneous implantable cardioverter defibrillator (ICD) was implanted and further genetics testing was done. Rapid Whole Genome Sequencing PGnome®- RAPID) resulted heterozygous variant of uncertain significance in CALM2 gene NM_001743.5 for variant c.136G>A.\\n \\n \\n \\n To the authors’ knowledge, this is the third known record of such mutation in accordance with the International Calmodulin Registry (n=74). Identification of CALM mutations can help advance the understanding of genetic underpinnings of arrhythmias and underscore necessity of genetic screening and personalized treatment strategies. Subcutaneous ICDs offer a promising therapeutic option while minimizing risks associated with traditional transvenous ICDs.\\n\",\"PeriodicalId\":507701,\"journal\":{\"name\":\"European Heart Journal - Case Reports\",\"volume\":\"73 8\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-07-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Heart Journal - Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/ehjcr/ytae340\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Heart Journal - Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/ehjcr/ytae340","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A Rare Case Report of Catecholaminergic Polymorphic Ventricular Tachycardia with an Uncommon CALM2 Mutation
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a primary arrhythmia disorder characterized by syncope or sudden cardiac death and typically caused by a gain-of-function of the Ryanodine Receptor Type 2 (RyR2) mutation. Calmodulin is a calcium-binding protein responsible for many intracellular signaling pathways and disruptions in function or regulation may lead to potentially fatal arrhythmias. We present a case of a young patient with CPVT found to have an unusual, potentially causative, Calmodulin 2- a protein coding gene (CALM2) mutation.
A 21-year-old female with autism was brought to the ED following cardiac arrest. Bidirectional ventricular tachycardia (VT) was captured on electrocardiogram (ECG). Propranolol was initiated and patient had no further episodes of ventricular arrhythmia. A subcutaneous implantable cardioverter defibrillator (ICD) was implanted and further genetics testing was done. Rapid Whole Genome Sequencing PGnome®- RAPID) resulted heterozygous variant of uncertain significance in CALM2 gene NM_001743.5 for variant c.136G>A.
To the authors’ knowledge, this is the third known record of such mutation in accordance with the International Calmodulin Registry (n=74). Identification of CALM mutations can help advance the understanding of genetic underpinnings of arrhythmias and underscore necessity of genetic screening and personalized treatment strategies. Subcutaneous ICDs offer a promising therapeutic option while minimizing risks associated with traditional transvenous ICDs.