Cardiac-only Timothy Syndrome (COTS): Peripartum Cardiomyopathy and Long QT Syndrome

Publication date: Available online 13 May 2019Source: Revista Española de Cardiología (English Edition)Author(s): José M. Larrañaga-Moreira, Sonsoles Quintela-García, Ivonne J. Cárdenas-Reyes, Cayetana Barbeito-Caamaño, Lorenzo Monserrat-Iglesias, Roberto Barriales-Villa
Source: Revista Espanola de Cardiologia - Category: Cardiology Source Type: research

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We examined frequency, clinical characteristics and AF‐related management and outcomes amongst this patient population.MethodsWe retrospectively studied consecutive probands with inherited cardiomyopathy (n=962) and inherited arrhythmia syndromes (n=195) evaluated between 2002 ‐2018.ResultsAF was observed in 5 ‐31% of patients, with the highest frequency in HCM. Age of AF onset was 45.8 ± 21.9 years in the inherited arrhythmia syndromes compared to 53.3 ± 15.3 years in the inherited cardiomyopathies, with 4 CPVT patients developing AF at median age of 20 years. Overall, 11% of patients with AF had a t r...
Source: Journal of Cardiovascular Electrophysiology - Category: Cardiology Authors: Tags: ORIGINAL ARTICLE Source Type: research
This state-of-the art review discusses sudden cardiac death (SCD) risk stratification and prevention using implantable cardioverter defibrillator (ICD) therapy and the place of catheter ablation in the major inherited cardiomyopathies and primary arrhythmic syndromes. ICD therapy protects against SCD in many inherited cardiac conditions, particularly the cardiomyopathies in advanced stages, such as hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). However, they are not usually indicated in most patients with cardiac ion channelopathies, particularly long QT syndrome, since medica...
Source: Heart, Lung and Circulation - Category: Cardiology Authors: Tags: Review Source Type: research
Authors: Trenkwalder T, Schunkert H, Reinhard W Abstract Molecular genetic analysis is an important component in the diagnostics of some cardiovascular diseases; however, genetic testing should not be used as a screening technique as the diagnostic value strongly depends on anamnestic and clinical factors, such as a positive family history and the disease phenotype. In cardiovascular diseases with high mutation detection rates, e.g. hypertrophic cardiomyopathy and primary arrhythmia syndromes (long QT syndrome, catecholaminergic polymorphic ventricular tachycardia) genetic testing should be included in th...
Source: Herz - Category: Cardiology Tags: Herz Source Type: research
Inherited heart diseases include numerous conditions, from the more prevalent hypertrophic cardiomyopathy (HCM) and familial hypercholesterolaemia (FH), to the comparatively less common inherited arrhythmia syndromes, such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada syndrome (BrS). Genetic testing has evolved rapidly over the last decade and is now considered a mainstream component of clinical management of inherited heart diseases. Cardiac manifestations can also be part of wider syndromes, and genetic testing can play a critical role in clarifying the underlying ae...
Source: Heart, Lung and Circulation - Category: Cardiology Authors: Tags: Review Source Type: research
Abstract Inheritable cardiac disorders, which may be associated with cardiomyopathic changes, are often associated with increased risk of sudden death in the young. Early linkage analysis studies in Mendelian forms of these diseases, such as hypertrophic cardiomyopathy and long-QT syndrome, uncovered large-effect genetic variants that contribute to the phenotype. In more recent years, through genotype-phenotype studies and methodological advances in genetics, it has become evident that most inheritable cardiac disorders are not monogenic but, rather, have a complex genetic basis wherein multiple genetic variants c...
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research
ConclusionData from the present registry display a surprisingly high mortality in patients with electrical heart disease equivalent to the control group. A high proportion of patients who received an ICD for secondary prevention may be regarded as a major determinant for these results, while severe comorbidities such as diabetes, hypertension, and renal failure are major determinants for mortality in the control cohort.
Source: Clinical Research in Cardiology - Category: Cardiology Source Type: research
ConclusionOur report underlines potential cardiac complications linked to the common pharmacological treatment in this rare multiorgan and proteiform disease.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Background: The prevalence of atrial fibrillation (AF) has not been well described in young patients with inherited heart diseases such as the inherited cardiomyopathies: hypertrophic cardiomyopathy (HCM), familial dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), left ventricular non-compaction (LVNC); or inherited arrhythmia syndromes including long QT syndrome (LQTS), Brugada syndrome (BrS) or catecholaminergic polymorphic ventricular tachycardia (CPVT).
Source: Heart, Lung and Circulation - Category: Cardiology Authors: Tags: 455 Source Type: research
The efficacy of cascade screening for the inherited heart conditions long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) is incompletely characterized.
Source: Heart Rhythm - Category: Cardiology Authors: Source Type: research
Left cardiac sympathetic denervation (LCSD) is as an effective treatment for long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and in select cases of substrate-mediated ventricular tachycardia (VT) or fibrillation (VF) in ischemic and nonischemic cardiomyopathy. The use and implications of LCSD on pediatric patients with congenital heart disease are not known. Bonura and colleagues (DOI: https://doi.org/10.1016/j.hrcr.2019.04.007) described two pediatric patients that underwent LCSD in the setting of refractory ventricular arrhythmias and congenital heart disease.
Source: Heart Rhythm - Category: Cardiology Authors: Source Type: research
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