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ISSN 2078-7170 (Electronic)

2014, Number S1

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CorSalud 2014; 6 (S1)

Sudden cardiac death in risk population

de León ONE

Language: Spanish
References: 29
Page: 30-41
PDF size: 355.57 Kb.


ABSTRACT

Introduction: Sudden cardiac death occurs unexpectedly in the first six hours after the onset of symptoms. The most common causes include ischemic heart disease (80 %) and genetic diseases with structural or functional abnormalities. Molecular genetics has identified substrates that are determinants of cardiovascular sudden death, which follow Mendelian inheritance patterns such as hereditary channelopathies and cardiomyopathies, clinical and molecularly heterogeneous diseases, with the same clinical or electrocardiographic phenotype.
Objectives: To update knowledge on this subject from the perspective of clinical genetics and the results of existing molecular studies, as well as applying them to isolated clinical cases and family cases that have been clinically assessed.
Method: An updating search on sudden cardiac death was conducted. It was focused on causal or determining genetic factors. The clinical records of patients with associated genetic conditions were reviewed at the Genetics Department of the William Soler Hospital.
Results: The topic is updated from the molecular perspective and its clinical relationship. The experiences with the assessment and clinical conduct in a Cuban family with long QT syndrome, clinical and electrocardiographic heterogeneity and inconclusive molecular study are reported. Other cases with sudden cardiac death are reported, in an infant with syndactyly, and a transitional one with Costello syndrome.
Conclusions: The genes of susceptibility and predisposition to cardiovascular causes of sudden death are very heterogeneous and dependent on epigenetic modifications in its expression. Therefore, sudden cardiac death is currently a challenge to cardiology, in which clinical and molecular genetics may contribute defining elements to its prevention and treatment.


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