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arrhythmogenic right ventricular dysplasia/potassio
Il collegamento viene salvato negli appunti
10 risultati
[Genetic arrhythmias and gender].
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Sex differences in the incidence and risk of cardiac arrhythmias are well known. Men have higher incidence of sudden cardiac death, ventricular fibrillation and atrial fibrillation, whereas women are more susceptible to ventricular arrhythmias due to QT prolongation. Sex is one of the most important
Molecular mechanisms of inherited ventricular arrhythmias.
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BACKGROUND
Inherited ventricular arrhythmias such as the long QT syndrome (LQTS), Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), idiopathic ventricular fibrillation (VF), and arrhythmogenic right ventricular cardiomyopathy (ARVC) account for a relevant proportion of
[Genetics of hereditary cardiopathies].
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Hypertrophic cardiomyopathy may be secondary to a mutation in the cardiac beta myosin heavy chain (14q11-q12), alpha tropomyosin (15q22), troponin T (1q32), protein C gene (11p11-q13) or in a non yet mapped gene. A X-linked dilated cardiomyopathy may be due to a mutation in the dystrophin gene
Cardiac Channelopathies: Recognition, Treatment, Management.
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The discovery of the human genome has ushered in a new era of molecular testing, advancing our knowledge and ability to identify cardiac channelopathies. Genetic variations can affect the opening and closing of the potassium, sodium, and calcium channels, resulting in arrhythmias and sudden death.
Is it time to include ion channel diseases among cardiomyopathies?
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Heart muscle diseases are traditionally classified according to their peculiar pathophysiologic features such as "dilated," "hypertrophic," "restrictive," and "arrhythmogenic right ventricular" cardiomyopathy. The extraordinary advances accomplished in the last two decades in molecular genetics have
[The genetic disorders responsible for sudden cardiac death].
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Sudden cardiac death is defined as an unpredictable death within 24 hours. It is estimated to occur with a frequency of more than 50,000 per year in Japan. The inherited arrhythmogenic diseases associated with the transmembranous ionic channels, anchoring proteins or intracellular calcium regulating
Genetics of congenital long QT syndrome and Brugada syndrome.
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The inherited cardiac arrhythmias including congenital and acquired long QT syndrome (LQTS), Brugada syndrome, progressive cardiac conduction defect, catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular cardiomyopathy, familial atrial fibrillation, familial sick
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
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Channelopathies, caused by disturbed potassium or calcium ion management in cardiac myocytes are a major cause of heart failure and sudden cardiac death worldwide. The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the
Review: Metabolic cardiomyopathy and conduction system defects in children.
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Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well as storage diseases. A number of metabolic disorders are associated with both myopathy and cardiomyopathy. These include the glycogen storage diseases, ie, acid maltase deficiency (infantile, childhood, and
Cardiomyopathies and myocardial disorders in Africa: present status and the way forward.
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A review of heart diseases in Africa shows that the cardiomyopathies continue to be important causes of morbidity and mortality in the population. Hypertension remains the commonest cause of myocardial disease, followed by the cardiomyopathies. Ischaemic heart disease continues to be rare. Of the
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