Fabry disease in cardiology practice: Literature review and expert point of view.

Fabry disease in cardiology practice: Literature review and expert point of view. Arch Cardiovasc Dis. 2019 Feb 27;: Authors: Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP Abstract Fabry disease is an X-linked progressive multisystemic genetic sphingolipidosis caused by deficient activity of lysosomal α-galactosidase A. Men aged>30 years and women aged>40 years most often present with unexplained left ventricular hypertrophy, usually concentric and non-obstructive, but sometimes mimicking sarcomeric hypertrophic cardiomyopathy, particularly when isolated, as in the cardiac or late-onset variant of the disease. In hypertrophic cardiomyopathy cohorts, up to 1% of patients have been diagnosed with Fabry disease. Frequent cardiac symptoms include chronotropic incompetence, severe conduction disturbances and arrhythmias, heart failure and sudden death, and cardiovascular complications are currently the leading cause of death at a mean age of 55 years in men and 66 years in women. Complementary to screening for extracardiac manifestations, the initial cardiac evaluation should include long-duration electrocardiogram recordings, echocardiography and late gadolinium and T1 mapping magnetic resonance imaging. Abnormalities of a non-hypertrophied inferolateral wall at the base of the left ventricle (thinning, decreased strain, midwall fibrosis) and low native T1 signal on magnetic resonance imaging a...
Source: Archives of Cardiovascular Diseases - Category: Cardiology Authors: Tags: Arch Cardiovasc Dis Source Type: research

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We present here the case of a patient transplanted due to end ‐stage arrhythmogenic right ventricular cardiomyopathy (ARVC), fulfilling the task force criteria. A few years after successful heart transplantation (HTX), the patient developed similar symptoms and morphofunctional changes of the heart, which led to critical re‐evaluation of his primary diagno sis.
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Case Report Source Type: research
Publication date: Available online 19 November 2019Source: Pharmacological ResearchAuthor(s): Nebojša Mujović, Dobromir Dobrev, Milan Marinković, Vincenzo Russo, Tatjana S. PotparaAbstractAmiodarone is an iodinated benzofuran derivative, a highly lipophilic drug with unpredictable pharmacokinetics. Although originally classified as a class III agent due to its ability to prolong refractoriness in cardiac regions and prevent/terminate re-entry, amiodarone shows antiarrhythmic properties of all four antiarrhythmic drug classes. Amiodarone is a potent coronary and peripheral vasodilator and can be safely used in pati...
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
AbstractHypertrophic cardiomyopathy (HCM) with severe diastolic dysfunction is a major cause of heart failure and sudden cardiac death (SCD) associated with lethal arrhythmia. Although various risk factors for cardiac events have been reported in HCM patients, previous studies have reported that some HCM patients exhibit either no risk or a low risk of SCD experienced cardiac events. The mid-diastolic transmitral flow velocity curve (mitral L-wave) is an echocardiographic index of left ventricular compliance, and it has been reported as one of the parameters of advanced diastolic dysfunction assessed noninvasively. However...
Source: Heart and Vessels - Category: Cardiology Source Type: research
CONCLUSION: Acute myocardial infarction and hypertrophic cardiomyopathy patients who were obese exhibited worse long-term outcomes than those without obesity. PMID: 31674878 [PubMed - as supplied by publisher]
Source: Perfusion - Category: Cardiovascular & Thoracic Surgery Authors: Tags: Perfusion Source Type: research
Authors: Zhang X, Liu X Abstract Mid-ventricular obstructive hypertrophic cardiomyopathy (MVOHC) with apical aneurysm is a rare type of cardiomyopathy. It is associated with an elevated risk of ventricular arrhythmias, thromboembolism, heart failure and sudden cardiac death. The present case study reports on a patient with MVOHC and apical aneurysm who developed ventricular arrhythmias and heart failure. The patient received an implantable cardioverter defibrillator for prevention of fatal arrhythmias. Ventricular tachycardia was terminated by increased doses of amiodarone and β-blocker. Transthoracic echocard...
Source: Experimental and Therapeutic Medicine - Category: General Medicine Tags: Exp Ther Med 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
CONCLUSIONS: Exercise rehabilitation appears to be applicable and safe in HCM. It mainly benefits patients suffering from significant functional limitation. Larger prospective studies are needed to validate these findings and better characterize patients expected to benefit from these programs. PMID: 31235420 [PubMed - as supplied by publisher]
Source: Journal of Cardiology - Category: Cardiology Authors: Tags: J Cardiol Source Type: research
This article is protected by copyright. All rights reserved.
Source: FEBS Letters - Category: Biochemistry Authors: Tags: Review Source Type: research
Publication date: June 2019Source: Archives of Cardiovascular Diseases Supplements, Volume 11, Issue 3Author(s): C. Heuze, L. Legrand, A. Diallo, M.L. Monin, C. Ewenczyk, R. Isnard, E. Vicaut, A. Durr, F. PoussetIntroductionFriedreich ataxia (FRDA) is a rare genetic ataxia. The causal mutation is an expanded trinucleotide repeat (GAA) in the frataxin gene. Hypertrophic cardiomyopathy in FRDA is the major cause of early death. Patients with progressive decline of the left ventricular ejection fraction (LVEF) have the worst prognosis. The aim of the study was to evaluate the prognostic value of 2D global longitudinal strain ...
Source: Archives of Cardiovascular Diseases Supplements - Category: Cardiology Source Type: research
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