Acta clinica Croatica, Vol. 56. No. 4., 2017.
Case report
https://doi.org/10.20471/acc.2017.56.04.24
Genetic Aspects of Hereditary Arrhythmogenic Syndromes in Children and Adults
Vesna Miranović
; Department of Children’s Diseases, Clinical Center of Montenegro, Faculty of Medicine, University of Montenegro, Podgorica, Montenegro
Snežana Crnogorac
; Department of Gynecology and Obstetrics, Clinical Center of Montenegro, Faculty of Medicine, University of Montenegro, Podgorica, Montenegro
Abstract
Recent research has revealed the genetic etiology of a number of heart diseases that cause sudden cardiac death. Lethal channelopathies are of great importance among the genetically determined heart diseases. Their basic characteristics are unpredictable and deadly nature, autosomal dominant inheritance with variable expressivity and incomplete penetrance in structurally normal heart, and absence of morphological and histological clues that a standard autopsy can identify. Minimum screening of the relatives of sudden cardiac death victims involves taking medical history, physical examination, electrocardiography, echocardiography, and exercise testing. Total positivity of classic genetic tests is only 15%-25%. Even the next generation sequencing technology does not provide a positive result of genetic testing in more than 35% of cases. Therefore, it is necessary to identify a larger number of genes the presence of which can lead to sudden cardiac death, to reduce the number of false positive results, and point to the importance of conducting genetic testing of young victims of sudden cardiac death. Until then, it is enough to preserve 5 g of fresh heart tissue of sudden cardiac death victims at a temperature of -80 °C. The material can be analyzed years later without losing its actuality because it contains information important for the next generation of the sudden cardiac death victim relatives.
Keywords
Heart diseases; Death, sudden, cardiac; Autopsy; Echocardiography; Genetic testing; High-throughput nucleotide sequencing
Hrčak ID:
195513
URI
Publication date:
15.12.2017.
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