Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

ConclusionCalmodulinopathies are largely characterized by adrenergically-induced life-threatening arrhythmias. Available therapies are disquietingly insufficient, especially inCALM-LQTS. Combination therapy with drugs, sympathectomy, and devices should be considered.
Source: European Heart Journal - Category: Cardiology Source Type: research

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Conclusion: Video-assisted CSD should be considered as a treatment option for patients with potentially dangerous arrhythmias that do not respond to conventional treatment, especially in recurrent ventricular tachycardia. PMID: 31588139 [PubMed - in process]
Source: Archivos de Cardiologia de Mexico - Category: Cardiology Authors: Tags: Arch Cardiol Mex Source Type: research
This article summarizes the diseases that we have learned about, such as the long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. The article examines the diagnosis, genetic screening of patients and their relatives, management, and referral to a specialist for further therapy. PMID: 31378327 [PubMed - in process]
Source: The Medical Clinics of North America - Category: General Medicine Authors: Tags: Med Clin North Am Source Type: research
This article summarizes the diseases that we have learned about, such as the long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. The article examines the diagnosis, genetic screening of patients and their relatives, management, and referral to a specialist for further therapy.
Source: Medical Clinics of North America - Category: Primary Care Authors: Source Type: research
CONCLUSION: Recent technological advances enable a comprehensive genetic screening of a large number of genes in a cost-effective way. However, the interpretation of genetic data and its translation into clinical practice are the main challenge for cardiologists and geneticists. However, there is important controversy as to the clinical value, and cost effectiveness of the use of electrocardiogram as well as of genetic testing to detect these cases. Our review focuses on these current matters of argue. PMID: 30210005 [PubMed - as supplied by publisher]
Source: Current Cardiology Reviews - Category: Cardiology Tags: Curr Cardiol Rev Source Type: research
We describe a case of refractory pulseless polymorphic ventricular tachycardia successfully treated with a bolus of propranolol intravenously, followed by an esmolol infusion and extracorporeal life support for 4 days in a 12-year-old boy later diagnosed with catecholaminergic polymorphic ventricular tachycardia. He had an excellent neurological outcome. Genetic testing for mutations associated with cardiac arrhythmias yielded a mutation of the syntrophin α-1 gene. The pathogenicity of this specific variant is uncertain. A mutation of this gene at a different locus is implicated in rare cases of long-QT syndrome. The...
Source: A&A Case Reports - Category: Anesthesiology Tags: Case Reports Source Type: research
Abstract There has been a significant progress in our understanding of the molecular mechanisms by which calcium (Ca(2+)) ions mediate various types of cardiac arrhythmias. A growing list of inherited gene defects can cause potentially lethal cardiac arrhythmia syndromes, including catecholaminergic polymorphic ventricular tachycardia, congenital long QT syndrome, and hypertrophic cardiomyopathy. In addition, acquired deficits of multiple Ca(2+)-handling proteins can contribute to the pathogenesis of arrhythmias in patients with various types of heart disease. In this review article, we will first review the key r...
Source: Circulation Research - Category: Cardiology Authors: Tags: Circ Res Source Type: research
Publication date: Available online 18 May 2017 Source:Pharmacology & Therapeutics Author(s): Isik Turker, Tomohiko Ai, Hideki Itoh, Minoru Horie Since the early 1990s, the concept of primary “inherited” arrhythmia syndromes or ion channelopathies has evolved rapidly as a result of revolutionary progresses made in molecular genetics. Alterations in genes coding for membrane proteins such as ion channels or their associated proteins responsible for the generation of cardiac action potentials (AP) have been shown to cause specific malfunctions which eventually lead to cardiac arrhythmias. These arrhythmic dis...
Source: Pharmacology and Therapeutics - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 22 March 2017 Source:The Journal of Molecular Diagnostics Author(s): Dorien Proost, Johan Saenen, Geert Vandeweyer, Annelies Rotthier, Maaike Alaerts, Emeline M. Van Craenenbroeck, Joachim Van Crombruggen, Geert Mortier, Wim Wuyts, Christiaan Vrints, Jurgen Del Favero, Bart Loeys, Lut Van Laer Primary electrical disease (PED) is characterized by cardiac arrhythmias, which can lead to sudden cardiac death in the absence of detectable structural heart disease. PED encompasses a diversity of inherited syndromes, predominantly Brugada syndrome, early repolarization syndrome, long QT syndrome...
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research
Please wait while the activity loads. If this activity does not load, try refreshing your browser. Also, this page requires javascript. Please visit using a browser with javascript enabled. If loading fails, click here to try again Click on the 'Start' button to begin the mock test. After answering all questions, click on the 'Get Results' button to display your score and the explanations. There is no time limit for this mock test. Start Congratulations - you have completed DM / DNB Cardiology Entrance Mock Test 9. You scored %%SCORE%% out of %%TOTAL%%. Your performance has been rate...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: Cardiology MCQ DM / DNB Cardiology Entrance Featured Source Type: blogs
This study found that though it is often associated with coronary artery disease (CAD), it can also occur in those without significant CAD. It was not specifically associated with disease of right coronary artery disease. This cardioinhibitory response may be a manifestation of the Bezold-Jarisch reflex. Bezold-Jarisch reflex inhibits sympathetic activity (sympathetic withdrawal) and increases parasympathetic activity, resulting in bradycardia, which may be associated with vasodilatation, nausea and hypotension. Bezold-Jarisch has been described in the setting of inferior wall infarction and coronary angiography. Origin...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: Cardiology MCQ Cardiology X-ray Featured Source Type: blogs
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