The homozygous variant c.245G> A/p.G82D in PNPLA2 is associated with arrhythmogenic cardiomyopathy phenotypic manifestations.

This article is protected by copyright. All rights reserved. PMID: 31525260 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research

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Abstract The pretransplant risk assessment for patients with ESKD who are undergoing evaluation for kidney transplant is complex and multifaceted. When considering cardiovascular disease in particular, many factors should be considered. Given the increasing incidence of kidney transplantation and the growing body of evidence addressing ESKD-specific cardiovascular risk profiles, there is an important need for a consolidated, evidence-based model that considers the unique cardiovascular challenges that these patients face. Cardiovascular physiology is altered in these patients by abrupt shifts in volume status, alt...
Source: Clinical Journal of the American Society of Nephrology : CJASN - Category: Urology & Nephrology Authors: Tags: Clin J Am Soc Nephrol Source Type: research
We report our experience using catheter ablation to treat recurrent arrhythmia in patients with CHD or CMP considered for transplantation.
Source: International Journal of Cardiology - Category: Cardiology Authors: Source Type: research
ConclusionsBy utilizing and inclusion/exclusion criteria, setting limits on the frequency a patient is allowed to ambulate and creating a protocol to ensure a controlled setting, patients with PACs can safely ambulate without monitoring the PA waveforms. The use of a standard dressing and immobilization technique prevents catheter dislodgement during ambulation. By increasing physical activity, patients will gain strength to help prevent deconditioning during prolonged hospitalizations
Source: Heart and Lung: The Journal of Acute and Critical Care - Category: Respiratory Medicine Source Type: research
Publication date: Available online 15 August 2019Source: American Heart JournalAuthor(s): Fatima Ali-Ahmed, Frederik Dalgaard, Sana M. Al-KhatibAbstractMyocarditis is a major cause of sudden cardiac death (SCD) and dilated cardiomyopathy (DCM) in young adults. Cardiac magnetic resonance (CMR) is the established tool for the diagnosis of myocarditis, and late gadolinium enhancement (LGE) detected on CMR imaging is the strongest independent predictor of SCD, all-cause mortality, and cardiac mortality. Several other factors have been associated with SCD or cardiac transplantation including New York Heart Association functiona...
Source: American Heart Journal - Category: Cardiology Source Type: research
Abstract Cardiac amyloidosis or amyloid cardiomyopathy (ACM), commonly resulting from extracellular deposition of amyloid fibrils consisted of misfolded immunoglobulin light chain (AL) or transthyretin (TTR) protein, is an underestimated cause of heart failure and cardiac arrhythmias. Among the three types of cardiac amyloidosis (wild-type or familial TTR and light-chain), the wild-type (Wt) TTR-related amyloidosis (ATTR) is an increasingly recognized cause of heart failure with preserved ejection fraction (HFpEF), and amyloidosis should be considered in the differential diagnosis of this heart failure group of pa...
Source: European Journal of Internal Medicine - Category: Internal Medicine Authors: Tags: Eur J Intern Med Source Type: research
Authors: Palladino A, Papa AA, Morra S, Russo V, Ergoli M, Rago A, Orsini C, Nigro G, Politano L Abstract Cardiomyopathy associated with dystrophinopathies - Duchenne muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-CM) and cardiomyopathy of Duchenne/Becker (DMD/BMD carriers - is an almost constant manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Dystrophinopathic cardiomyopathy is the result of the dystrophin protein deficiency at the myocardium level, parallel to that occurring at the skeletal muscle level....
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
AbstractPurpose of reviewThis review summarizes the clinical characteristics and updated outcomes of primary pediatric cardiomyopathies including dilated (DCM), hypertrophic (HCM), and restrictive cardiomyopathy (RCM), and briefly discusses left ventricular non-compaction (LVNC) and arrhythmogenic cardiomyopathy (ACM), primarily arrythmogenic right ventricular cardiomyopathy (ARVC).Recent findingsPediatric cardiomyopathies are diseases of the heart muscle with an estimated annual incidence of 1.1 –1.5 cases per 100,000. They are progressive in nature and are frequently caused by a genetic mutation causing a structura...
Source: Current Treatment Options in Cardiovascular Medicine - Category: Cardiology Source Type: research
ConclusionsThis study reports a high incidence of FVP in patients with Danon disease and preexcitation. It underscores an alternate etiology of preexcitation in this population which can potentially be diagnosed without invasive EPS testing. Future multicenter studies are needed to expand this experience.This article is protected by copyright. All rights reserved.
Source: Journal of Cardiovascular Electrophysiology - Category: Cardiology Authors: Tags: ORIGINAL ‐ CLINICAL Source Type: research
Conclusion The exhaustive systematic evaluation of ECG has an incremental impact in the prognostication of a large cohort of DCM patients, also regarding the arrhythmic stratification.
Source: Journal of Cardiovascular Medicine - Category: Cardiology Tags: Research articles: Heart failure Source Type: research
Publication date: Available online 30 May 2019Source: Canadian Journal of CardiologyAuthor(s): Antonio Cannatà, Enrico Fabris, Marco Merlo, Jessica Artico, Piero Gentile, Carola Pio Loco, Andrea Ballaben, Federica Ramani, Giulia Barbati, Gianfranco SinagraAbstractBackgroundDilated Cardiomyopathy (DCM) represents a specific phenotype of heart failure (HF). Sex differences in the long-term prognosis of patients with DCM are unknown. Aim of this study is to investigate the long-term prognostic role of gender in a large cohort of DCM patients.Methods1113 DCM patients have been prospectively enrolled. To investigate the ...
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
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