Application of molecular diagnostics of cardiomyopathies in paediatric practice


Authors: L. Skutková 1;  D. Humlová 1,2;  J. Kadlecová 3
Authors‘ workplace: Pediatrická klinika LF MU a FN Brno 1;  Centrum kardiovaskulární a transplantační chirurgie, Brno 2;  Cytogenetická laboratoř Brno, s.  r.  o. 3
Published in: Kardiol Rev Int Med 2016, 18(4): 268-271

Overview

Inherited cardiomyopathies are one of the most common cardiovascular diseases. Recently, genetic examination has become part of the diagnostics of these conditions. More than 80 genes are known to be associated with cardiomyopathies and according to the latest research, their pathogenesis overlaps with channelopathies. The range of examined genes has been expanded using modern molecular genetic methods. Nowadays, there are 97 genes associated with cardiomyopathies analysed simultaneously in our laboratory. New sequencing methods extended the possibilities of molecular diagnostics of patients with cardiomyopathy as well as identification of pre-symptomatic individuals in families. Regular cardiologic check-ups are scheduled for both children with inherited suspicious variants and relatives of subjects without clear genetic foundation.

Keywords:
cardiomyopathy – molecular diagnostics – genetics – paediatrics


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Labels
Paediatric cardiology Cardiac surgery Cardiology
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