scholarly journals Brugada syndrome in a young patient with type 1 myotonic dystrophy requiring an implantable cardioverter defibrillator for primary prevention: a case report

2019 ◽  
Vol 3 (2) ◽  
Author(s):  
Panagiotis Korantzopoulos ◽  
Aris Bechlioulis ◽  
Lampros Lakkas ◽  
Katerina K Naka
Keyword(s):  
Ventricular Tachycardia ◽  
Myotonic Dystrophy ◽  
Brugada Syndrome ◽  
Adult Life ◽  
Polymorphic Ventricular Tachycardia ◽  
Invasive Treatment ◽  
Drug Induced ◽  
Life Threatening ◽  
Cardiac Manifestations

Abstract Background  Cardiac electrical disturbances represent the most frequent cardiac manifestations of myotonic dystrophy Type 1 (MD1). Limited data suggest that the prevalence of Brugada syndrome in MD1 may be increased compared to the general population. Case summary  We report a case of a 22-year-old asymptomatic man with repolarization abnormalities in leads V1–V3 suggestive of Type III Brugada pattern. The patient had a family history of MD and incidents of sudden death in relatives. Drug-induced Brugada Type 1 syndrome was revealed after procainamide challenge. A ventricular stimulation study was positive since a polymorphic ventricular tachycardia was induced after two extrastimuli. The patient underwent implantation of a single chamber cardiac defibrillator (ICD). Eight months after the procedure he suffered an appropriate ICD shock due to rapid polymorphic ventricular tachycardia. Discussion  Brugada syndrome is linked with MD1. Potential life-threatening arrhythmias may develop in the adult life of MD1 patients. Electrocardiographic surveillance and tailored invasive treatment with ICDs can prevent sudden cardiac death in this setting.

scholarly journals Rare Cause of Wide QRS Tachycardia

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Nikolay Yu. Mironov ◽  
Natalia A. Mironova ◽  
Marina A. Saidova ◽  
Olga V. Stukalova ◽  
Sergey P. Golitsyn
Keyword(s):  
Ventricular Tachycardia ◽  
Myotonic Dystrophy ◽  
Cardiac Disease ◽  
Cardiac Involvement ◽  
Neuromuscular Diseases ◽  
Conduction Disturbances ◽  
Life Threatening ◽  
Cardiac Manifestations ◽  
Severe Cardiac Disease

Cardiac involvement is a well-known feature of neuromuscular diseases. Most commonly cardiac manifestations occur later in the course of the disease. Occasionally severe cardiac disease, including conduction disturbances, life-threatening arrhythmias, and cardiomyopathy, with its impact on prognosis, may be dissociated from peripheral myopathy. We report a case of bundle branch reentrant ventricular tachycardia as primary manifestation of myotonic dystrophy and discuss associated diagnostic and treatment challenges.

scholarly journals Low rate of life‐threatening events and limitations in predicting invasive and noninvasive markers of symptoms in a cohort of type 1 Brugada syndrome patients: Data and insights from the GenBra registry

2020 ◽  
Vol 31 (11) ◽  
pp. 2920-2928 ◽  
Author(s):  
Luciana Sacilotto ◽  
Mauricio I. Scanavacca ◽  
Natália Olivetti ◽  
Carolina Lemes ◽  
Gabrielle D. Pessente ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Life Threatening ◽  
Noninvasive Markers ◽  
Low Rate

scholarly journals Ventricular tachycardia in patients with type 1 myotonic dystrophy: a case series

2019 ◽  
Vol 3 (2) ◽  
Author(s):  
Anish Nikhanj ◽  
Soori Sivakumaran ◽  
Bailey Miskew-Nichols ◽  
Zaeem A Siddiqi ◽  
Gavin Y Oudit
Keyword(s):  
Ventricular Tachycardia ◽  
Myotonic Dystrophy ◽  
Ventricular Arrhythmias ◽  
Case Series ◽  
Cardiac Conduction ◽  
Cardiac Resynchronization ◽  
Angiotensin Converting Enzyme Inhibition ◽  
Mineralocorticoid Receptor Antagonist ◽  
Medical Therapies

Abstract Background Type 1 myotonic dystrophy (DM1) is associated with a variety of cardiac conduction abnormalities and the frequent need for permanent pacing. However, the role of ventricular tachycardia (VT) and the implied risk of sudden cardiac death (SCD) is poorly understood. Case summary This study examined a 56-patient DM1 cohort of men and women, and identified five patients (two females and three males) with ventricular arrhythmias (8.9%). Patients were reviewed on a case-by-case basis, with their clinical presentation and management of VT and the associated cardiomyopathy indicated. Patient cardiac function was determined by 12-lead electrocardiogram, 48-h Holter monitor, and transthoracic echocardiography. These patients were therefore suitable candidates for implantable cardioverter-defibrillator implantation and received these devices; four of the five patients also received cardiac resynchronization therapy. Medical therapies included angiotensin converting enzyme inhibition, mineralocorticoid receptor antagonist, and following device implantation, beta-blocker therapy was initiated. Discussion Our case series demonstrates the prevalence of VT in patients with DM1 highlighting the associated risks of SCD in this patient population. The burden of ventricular arrhythmias, advanced conduction disease, and cardiomyopathy are best treated with a combination of device and medical therapies.

scholarly journals Study of genetic markers of cardiac arrhythmias in Kazakhstan

2014 ◽  
Vol 2 ◽  
Author(s):  
Makhabbat Bekbossynova ◽  
Ainur Akilzhanova ◽  
Zhannur Abilova ◽  
Ayan Abdrahmanov ◽  
Omirbek Nuralinov
Keyword(s):  
Ventricular Tachycardia ◽  
Sudden Cardiac Death ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Novel Mutation ◽  
Hot Spot ◽  
Receptor Gene ◽  
Polymorphic Ventricular Tachycardia ◽  
Life Threatening ◽  
Genetically Determined

Introduction: Cardiac arrhythmias are the most common cause of mortality and sudden cardiac death worldwide. In the past decade, genetic factors underlying arrhythmogenic diseases have been revealed and given novel insights in to the understanding and treatment of arrhythmias predisposing one to sudden cardiac death.Material and methods: We conducted a pilot genetic screening of two patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) and 14 patients with ventricular tachycardia (VT) for genetic variants in the human ryanodine receptor gene 2 (hRYR2). The most relevant 45 hot-spot exons of hRYR2 were amplified by polymerase chain reaction (PCR) and directly sequenced.Results: One novel mutation in a CPVT patient (c.A13892T; p.D4631V) and a novel mutation in a VT patient (c.G5428C; p.V1810L) were identified. Both variants are located at phylogenetically conserved positions and predicted pathogenesis. Three known synonymous SNPs (rs3765097, rs2253273, and TMP ESp1 237664067) were detected in the study group. No further variants within the target regions were detected in the study group.Conclusion: The results of study can be applied to risk asssessment for life-threatening arrhythmias and assist in development of appropriate strategies for prevention of sudden cardiac death. The implementation of these strategies would assist in the management of patients with genetically determined arrhythmias in Kazakhstan.

scholarly journals Cardiac Pathology in Myotonic Dystrophy Type 1

2021 ◽  
Vol 22 (21) ◽  
pp. 11874
Author(s):  
Mani S. Mahadevan ◽  
Ramesh S. Yadava ◽  
Mahua Mandal
Keyword(s):  
Myotonic Dystrophy ◽  
Smooth Muscles ◽  
Clinical Manifestations ◽  
Cardiac Conduction ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Cardiac Pathology ◽  
Systemic Disorder ◽  
Cardiac Manifestations

Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy affecting adults and children, is a multi-systemic disorder affecting skeletal, cardiac, and smooth muscles as well as neurologic, endocrine and other systems. This review is on the cardiac pathology associated with DM1. The heart is one of the primary organs affected in DM1. Cardiac conduction defects are seen in up to 75% of adult DM1 cases and sudden death due to cardiac arrhythmias is one of the most common causes of death in DM1. Unfortunately, the pathogenesis of cardiac manifestations in DM1 is ill defined. In this review, we provide an overview of the history of cardiac studies in DM1, clinical manifestations, and pathology of the heart in DM1. This is followed by a discussion of emerging data about the utility of cardiac magnetic resonance imaging (CMR) as a biomarker for cardiac disease in DM1, and ends with a discussion on models of cardiac RNA toxicity in DM1 and recent clinical guidelines for cardiologic management of individuals with DM1.

scholarly journals Functional Bowel Disorders in Patients with Brugada Syndrome and Drug-Induced Type 1 Brugada Pattern

2020 ◽  
Author(s):  
Anil Sarica ◽  
Serhat Bor ◽  
Mehmet Orman ◽  
Hector Barajas-Martinez ◽  
Jimmy Juang ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Control Group ◽  
Functional Bowel Disorders ◽  
Drug Induced ◽  
Co Morbidity ◽  
History Of ◽  
Bowel Disorders ◽  
Or History ◽  
Brugada Pattern

Introduction: Irritable bowel syndrome (IBS) is one of the most widely recognized functional bowel disorders (FBDs) with a genetic component. SCN5A gene and SCN1B loci have been identified in population-based IBS cohorts and proposed to have a mechanistic role in the pathophysiology of IBS. These same genes have been associated with Brugada syndrome (BrS). The present study examines the hypothesis that these two inherited syndromes are linked. Methods and Results: Prevalence of FBDs over a 12 months period were compared between probands with BrS/drug-induced type 1 Brugada pattern (DI-Type1 BrP) (n=148) and a control group (n=124) matched for age, female sex, presence of arrhythmia and co-morbid conditions. SCN5A/SCN1B genes were screened in 88 patients. Prevalence of IBS was 25% in patients with BrS/DI-Type1 BrP and 8.1% in the control group (p=2.34×10−4). On stepwise logistic regression analysis, presence of current and/or history of migraine (OR of 2.75; 95% CI: 1.08 to 6.98; p=0.033) was a predictor of underlying BrS/DI-Type1 BrP among patients with FBDs. We identified 8 putative SCN5A/SCN1B variants in 7 (12.3%) patients with BrS/DI-Type1 BrP and 1 (3.2%) patient in control group. Five out of 8 (62.5%) patients with SCN5A/SCN1B variants had FBDs. Conclusion: IBS is a common co-morbidity in patients with BrS/DI-Type1 BrP. Presence of current and/or history of migraine is a predictor of underlying BrS/DI-Type1 BrP among patients with FBDs. Frequent co-existence of IBS and BrS/DI-Type1 BrP necessitates cautious use of certain drugs among the therapeutic options for IBS that are known to exacerbate the Brugada phenotype.

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