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Arrhythmias Associated with Inflammatory Cardiomyopathies.

ABSTRACT: Purpose of review:To provide an approach to the diagnosis and treatment of arrhythmias associated with inflammatory cardiomyopathies. Recent findings:Inflammatory cardiomyopathies are increasingly recognized as the etiology of both ventricular and supraventricular arrhythmias. There have been recent studies providing novel insights into the pathogenesis of arrhythmias in inflammatory cardiomyopathies and exploring the role of various diagnostic tools and treatment strategies. Summary:Patients with inflammatory cardiomyopathies often present with one or more arrhythmias, including atrioventricular block, atrial and ventricular tachyarrhythmias, and occasionally sudden cardiac death. Given dynamic pathophysiology and heterogeneous presentation, the management of arrhythmias in these patients presents unique challenges. We review the current approach to the diagnosis and treatment of arrhythmias in this challenging cohort of patients with an emphasis on cardiac sarcoidosis. Supplementary Information:The online version of this article (10.1007/s11936-020-00871-5) contains supplementary material, which is available to authorized users.

SUBMITTER: Karki R

PROVIDER: S-EPMC7674576 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Arrhythmias Associated with Inflammatory Cardiomyopathies.

Karki Roshan R Janga Chaitra C Deshmukh Abhishek J AJ

Current treatment options in cardiovascular medicine 20201119 12

<h4>Purpose of review</h4>To provide an approach to the diagnosis and treatment of arrhythmias associated with inflammatory cardiomyopathies.<h4>Recent findings</h4>Inflammatory cardiomyopathies are increasingly recognized as the etiology of both ventricular and supraventricular arrhythmias. There have been recent studies providing novel insights into the pathogenesis of arrhythmias in inflammatory cardiomyopathies and exploring the role of various diagnostic tools and treatment strategies.<h4>S ...[more]

PMID: 33230384

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Project description:Advances in DNA sequencing have made large, diagnostic gene panels affordable and efficient. Broad adoption of such panels has begun to deliver on the promises of personalized medicine, but has also brought new challenges such as the presence of unexpected results, or results of uncertain clinical significance. Genetic analysis of inherited cardiac conditions is particularly challenging due to the extensive genetic heterogeneity underlying cardiac phenotypes, and the overlapping, variable, and incompletely penetrant nature of their clinical presentations. The design of effective diagnostic tests and the effective use of the results depend on a clear understanding of the relationship between each gene and each considered condition. To address these issues, we developed simple, systematic approaches to three fundamental challenges: (1) evaluating the strength of the evidence suggesting that a particular condition is caused by pathogenic variants in a particular gene, (2) evaluating whether unusual genotype/phenotype observations represent a plausible expansion of clinical phenotype associated with a gene, and (3) establishing a molecular diagnostic strategy to capture overlapping clinical presentations. These approaches focus on the systematic evaluation of the pathogenicity of variants identified in clinically affected individuals, and the natural history of disease in those individuals. Here, we applied these approaches to the evaluation of more than 100 genes reported to be associated with inherited cardiomyopathies and arrhythmias including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia or cardiomyopathy, long QT syndrome, short QT syndrome, Brugada, and catecholaminergic polymorphic ventricular tachycardia, and to a set of related syndromes such as Noonan Syndrome and Fabry disease. These approaches provide a framework for delivering meaningful and accurate genetic test results to individuals with hereditary cardiac conditions.

Project description:Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent. Pediatric cardiomyopathies often occur in the absence of comorbidities, such as atherosclerosis, hypertension, renal dysfunction, and diabetes mellitus; as a result, they offer insights into the primary pathogenesis of myocardial dysfunction. Large international registries have characterized the epidemiology, cause, and outcomes of pediatric cardiomyopathies. Although adult and pediatric cardiomyopathies have similar morphological and clinical manifestations, their outcomes differ significantly. Within 2 years of presentation, normalization of function occurs in 20% of children with dilated cardiomyopathy, and 40% die or undergo transplantation. Infants with hypertrophic cardiomyopathy have a 2-year mortality of 30%, whereas death is rare in older children. Sudden death is rare. Molecular evidence indicates that gene expression differs between adult and pediatric cardiomyopathies, suggesting that treatment response may differ as well. Clinical trials to support evidence-based treatments and the development of disease-specific therapies for pediatric cardiomyopathies are in their infancy. This compendium summarizes current knowledge of the genetic and molecular origins, clinical course, and outcomes of the most common phenotypic presentations of pediatric cardiomyopathies and highlights key areas where additional research is required.Clinical trial registrationURL: http://www.clinicaltrials.gov. Unique identifiers: NCT02549664 and NCT01912534.

Dataset Information

Arrhythmias Associated with Inflammatory Cardiomyopathies.

Publications

Arrhythmias Associated with Inflammatory Cardiomyopathies.

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