Review article
https://doi.org/10.21860/medflum2026_349269
Monogenic Cardiovascular Diseases: From Genetic Cause to Genetic Testing
Sanja Dević Pavlić
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku Rijeka, Hrvatska
*
Ivana Stanković Matić
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku Rijeka, Hrvatska
Zlatko Čubranić
; Klinički bolnički centar Rijeka, Klinika za bolesti srca i krvnih žila, Rijeka, Hrvatska
Koraljka Benko
; Klinički bolnički centar Rijeka, Klinika za bolesti srca i krvnih žila, Rijeka, Hrvatska
Alen Ružić
; Klinički bolnički centar Rijeka, Klinika za bolesti srca i krvnih žila, Rijeka, Hrvatska
Robert Prstec
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku Rijeka, Hrvatska
Saša Ostojić
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku Rijeka, Hrvatska
Borut Peterlin
; Univerzitetni klinički centar Ljubljana, Klinički institut za genomsku medicinu, Ljubljana, Slovenija
* Corresponding author.
Abstract
Aim: Monogenic cardiovascular diseases (CVDs) encompass a diverse group of inherited disorders, most commonly including cardiomyopathies, channelopathies, aortopathies, and hereditary lipid disorders. Although rare in general population, they are associated with an increased risk of heart failure, arrhythmias, and sudden cardiac death, particularly in younger individuals. Their etiology is most often linked to pathogenic variants in single genes that regulate cardiac muscle contractility, ion channel function, aortic structure, or lipid metabolism. Identification of the causal variant enables diagnostic confirmation, risk assessment for family members, and personalized treatment planning. Genetic testing, primarily through next-generation sequencing in the context of cardiovascular disease, has become a key tool for diagnosis, prognostic stratification, and individualized management of inherited CVDs. Its application allows early identification of at-risk individuals, personalized risk assessment, pharmacogenomic-guided therapy, and implementation of preventive strategies. Integrating genetic testing into clinical practice enables a shift from generalized to personalized care, thereby reducing morbidity and mortality and improving outcomes for patients with CVDs and their families. Systematic use of these approaches is essential for effective management of monogenic CVDs and prevention of complications, promoting the advancement of modern precision cardiovascular medicine.
Keywords
cardiomyopathies; cardiovascular diseases; channelopathies; genetic diseases; genetic testing
Hrčak ID:
349269
URI
Publication date:
1.9.2026.
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