Genetic testing in hereditary cardiovascular diseases
█ Review
DOI: 10.26430/CHUNGARICA.2022.52.5.23
Authors:
Nagy Beáta1, Csonka Katalin1, Fekete Bálint András, Dohy Zsófia2,
Szabó Liliána2, Fintha Attila1, Matolcsy András1, Merkely Béla2, 3,
Vágó Hajnalka2,3*, Bödör Csaba1,4*
1Semmelweis Egyetem, Patológiai és Kísérleti Rákkutató Intézet, Budapest
2Semmelweis Egyetem, Városmajori Szív- és Érgyógyászati Klinika, Budapest
3Semmelweis Egyetem, Sportorvostan Tanszék, Budapest
4Semmelweis Egyetem, HCEMM-SE Molekuláris Onkohematológia Kutatócsoport, Patológiai és Kísérleti
Rákkutató Intézet, Budapest
Levelezési cím:
Dr. Vágó Hajnalka, e-mail: vago.hajnalka@med.semmelweis-univ.hu,
Dr. Bödör Csaba, e-mail: bodor.csaba1@med.semmelweis-univ.hu
*Egyenlően járultak hozzá.
Summary
Our knowledge in cardiovascular diseases, such as cardiomyopathies, arrhythmias and aortopathies has expanded in the last few years owing to the dynamic development of DNA-sequencing methods. Besides better understanding the genetic background of these diseases, progression has been made in therapeutic arena of these diseases as well, requiring precise diagnosis and advanced patient risk stratification. Genetic testing as a diagnostic tool helps to refine the prognosis of the disease and paves the way towards a personalized patient management. The aim of genetic testing is to identify the disease-causing variants in the index patient, followed by presymptomatic or predictive testing of the relatives with increased risk for the disease. Cardiologists play a key role in selection of patients who may benefit from genetic testing, to which understanding of basics of genetic analyses is necessary. This article serves as a short overview of the genetic background of common hereditary cardiovascular diseases, general rules of clinical genetics and practical application of cardiogenetic testing. Finally, we present our initial genetic testing results in this patient group.
ISSUE: CARDIOLOGIA HUNGARICA | 2022 | VOLUME 52, ISSUE 1
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