Cor Vasa 2026, 68(3):320-329

Genetic diagnostics in cardiology: Impact of heredity on risk of developing cardiovascular disease

Elnura Nishankulovaa, Katarzyna Wiśniewskab, Shoira Agzamovac, Evgeni Nikolaevd, Remigiusz Tomczyke, f
a Department of Clinical Disciplines, Osh International Medical University, Osh, the Kyrgyz Republic
b Faculty of Health Sciences, Radom Higher School, Radom, Poland
c Department of Family Medicine No. 1, Tashkent Pediatric Medical Institute, Tashkent, the Republic of Uzbekistan
d Clinic of General Surgery, Military Medical Academy, Varna, Bulgaria
e Faculty of Medicine, Bydgoszcz University of Science and Technology, Bydgoszcz, Poland
f Department of Cardiology and Cardiac Surgery, 10th Military Research Hospital and Polyclinic, Bydgoszcz, Poland

Genetické aspekty vzniku kardiovaskulárních onemocnění jsou důležité kvůli jejich významnému přínosu k celkové struktuře srdeční patologie a rozšíření diagnostických možností molekulárních technologií. Cílem studie bylo systematizovat současné znalosti o roli dědičných faktorů ve vývoji kardiovaskulárních patologií a posoudit klinickou účinnost genetických metod pro jejich diagnostiku. Po uplatnění kritérií pro zařazení a vyloučení zahrnoval přehled literatury 60 vědeckých studií. Analýza prokázala, že primární a sekundární strukturální poškození myokardu, srdeční arytmie a aterosklerotické komplikace jsou často způsobeny komplexními polygenními interakcemi spíše než jednotlivými monogenními defekty. Dědičné formy kardiomyopatií jsou spojeny s variacemi v genech sarkomerních a cytoskeletálních proteinů, přičemž klinické projevy se liší v závislosti na přítomnosti dalších modifikujících polymorfismů. Poruchy srdečního rytmu, jako je syndrom dlouhého a krátkého QT, syndrom Brugadových a katecholaminergní polymorfní tachykardie, vykazují vysokou genetickou heterogenitu a neúplnou penetranci. Geneticky determinované hodnoty lipoproteinu(a) (Lp(a)) jsou podstatné v patogenezi nejen aterosklerózy, ale i mnoha dalších onemocnění postihujících kardiovaskulární systém, souvisejících s polymorfismy lokusu Lp(a) na chromosomu 6q27 a ovlivňujících riziko trombotických komplikací. Navzdory prokázané účinnosti metod panelového a exomového sekvenování při identifikaci genetické predispozice je jejich klinické využití omezeno vysokými náklady a nedostatkem jednotných interpretačních kritérií, což omezuje možnost hromadného screeningu a personalizovaného přístupu k léčbě pacientů. © 2026, ČKS.

Klíčová slova: Arytmie, Elektrofyziologické poruchy, Kanálopatie, Lipoprotein(a), Penetrance, Pleiotropie

Vloženo: 13. říjen 2025; Revidováno: 2. prosinec 2025; Přijato: 23. prosinec 2025; Zveřejněno online: 2. červen 2012; Zveřejněno: 1. červenec 2026  Zobrazit citaci

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Nishankulova E, Wiśniewska K, Agzamova S, Nikolaev E, Tomczyk R. Genetic diagnostics in cardiology: Impact of heredity on risk of developing cardiovascular disease. Cor Vasa. 2026;68(3):320-329.
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    Reference

    1. Townsend N, Kazakiewicz D, Wright FL, et al. Epidemiology of cardiovascular disease in Europe. Nat Rev Cardiol 2022;19:133-143.
    2. Zhao D. Epidemiological features of cardiovascular disease in Asia. JACC: Asia 2021;1:1-13.
    3. Yadav S, Sitbon YH, Kazmierczak K, Szczesna-Cordary D. Hereditary heart disease: Pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains. Pflugers Arch 2019;471:683-699.
    4. Schultheiss HP, Fairweather D, Caforio ALP, et al. Dilated cardiomyopathy. Nat Rev Dis Primers 2019;5:32.
    5. Ahmad F, McNally EM, Ackerman MJ, et al. Establishment of specialized clinical cardiovascular genetics programs: Recognizing the need and meeting standards: A scientific statement from the American Heart Association. Circ Genom Precis Med 2019;12:e000054.
    6. Mio C, Zucco J, Fabbro D, et al. The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases. Clin Gen 2024:106:394-402.
    7. Grosse SD, Gudgeon JM. Cost or price of sequencing? Implications for economic evaluations in genomic medicine. Genet Med 2021;23:1833-1835.
    8. Addissouky TA, El Sayed IET, Ali MM, et al. Recent developments in the diagnosis, treatment, and management of cardiovascular diseases through artificial intelligence and other innovative approaches. J Biomed Res 2024;5:29-40.
    9. Girolami F, Frisso G, Benelli M, et al. Contemporary genetic testing in inherited cardiac disease: Tools, ethical issues, and clinical applications. J Cardiovasc Med 2018;19:1-11.
    10. Yotti R, Seidman CE, Seidman JG. Advances in the genetic basis and pathogenesis of sarcomere cardiomyopathies. Ann Rev Genom Hum Gen 2019;20:129-153.
    11. Sabater-Molina M, Pérez-Sánchez I, Hernández del Rincón JP, Gimeno JR. Genetics of hypertrophic cardiomyopathy: A review of current state. Clin Gen 2018;93:3-14.
    12. Teekakirikul P, Zhu W, Huang HC, Fung E. Hypertrophic cardiomyopathy: An overview of genetics and management. Biomolec 2019;9:878.
    13. Marian AJ. Molecular genetic basis of hypertrophic cardiomyopathy. Circ Res 2021;128:1533-1553.
    14. Wolf CM. Hypertrophic cardiomyopathy: Genetics and clinical perspectives. Cardiovasc Diagn Therapy 2019;9(Suppl 2):S388-S415.
    15. Aziz A, Musiol SK, Moody WE, et al. Clinical prediction of genotypes in hypertrophic cardiomyopathy: A systematic review. Eur J Clin Invest 2021;51:e13593.
    16. van Waning JI, Moesker J, Heijsman D, et al. Systematic review of genotype-phenotype correlations in noncompaction cardiomyopathy. J Am Heart Assoc 2019;8:e012993.
    17. Reichart D, Magnussen C, Zeller T, Blankenberg S. Dilated cardiomyopathy: From epidemiologic to genetic phenotypes: A translational review of current literature. J Int Med 2019;286:362-372.
    18. Rosenbaum AN, Agre KE, Pereira NL. Genetics of dilated cardiomyopathy: Practical implications for heart failure management. Nat Rev Cardiol 2020;17:286-297.
    19. Cerrone M, Remme CA, Tadros R, et al. Beyond the one gene - One disease paradigm: Complex genetics and pleiotropy in inheritable cardiac disorders. Circulation 2019;140:595-610.
    20. Ligthart S, de Vries PS, Uitterlinden AG, et al. Pleiotropy among common genetic loci identified for cardiometabolic disorders and C-reactive protein. PloS One 2015;10:e0118859.
    21. Robles-Mezcua A, Ruíz-Salas A, Medina-Palomo C, et al. The novel variant NP_00454563.2 (p.Glu259Glyfs*77) in gene PKP2 associated with arrhythmogenic cardiomyopathy in 8 families from Malaga, Spain. Genes 2023;14:1468.
    22. Jordan E, Peterson L, Ai T, et al. Evidence-based assessment of genes in dilated cardiomyopathy. Circulation 2021;144:7-19.
    23. Alfares AA, Kelly MA, McDermott G, et al. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: Expanded panels offer limited additional sensitivity. Genet Med 2015;17:880-888.
    24. Merkhatuly N, Iskanderov AN, Zhokizhanova SK, et al. Stereoselective Synthesis of cis-Eudesmane Esters Based on (-)-α-Santonin. Chem Nat Compd 2017;53:582-583.
    25. Lisiecka MZ. Clinical characteristics of allergic reactions to seeds and analysis of prevalence and severity. Rev Interdiscip Cienc Apl 2024;8:1-9.
    26. Bogoyavlenskiy A, Alexyuk M, Alexyuk P, et al. Computer Analysis of the Inhibition of ACE2 by Flavonoids and Identification of Their Potential Antiviral Pharmacophore Site. Mol 2023;28:3766.
    27. Kamstrup PR. Lipoprotein (a) and cardiovascular disease. Clin Chem 2021;67:154-166.
    28. Reyes-Soffer G, Ginsberg HN, Berglund L, et al. Lipoprotein(a): A genetically determined, causal, and prevalent risk factor for atherosclerotic cardiovascular disease: A scientific statement from the American Heart Association. Arterioscler Thromb Vasc Biol 2022;42:e48-e60.
    29. Mack S, Coassin S, Rueedi R, et al. A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms. J Lipid Res 2017;58:1834-1844.
    30. Björnson E, Adiels M, Taskinen MR, et al. Lipoprotein (a) is markedly more atherogenic than LDL: An apolipoprotein B-based genetic analysis. J Am Coll Cardiol 2024;83:385-395.
    31. Lau FD, Giugliano RP. Lipoprotein (a) and its significance in cardiovascular disease: A review. JAMA Cardiol 2022;7:760-769.
    32. Gudbjartsson DF, Thorgeirsson G, Sulem P, et al. Lipoprotein(a) concentration and risks of cardiovascular disease and diabetes. J Am Coll Cardiol 2019;74:2982-2994.
    33. Tsimikas S, Karwatowska-Prokopczuk E, Gouni-Berthold I, et al. Lipoprotein(a) reduction in persons with cardiovascular disease. N Engl J Med 2020;382:244-255.
    34. Koschinsky ML, Kronenberg F. The long journey of lipoprotein (a) from cardiovascular curiosity to therapeutic target. Atherosclerosis 2022;349:1-6.
    35. Cardoso-Saldaña G, Fragoso JM, Lale-Farjat S, et al. The rs10455872-G allele of the LPA gene is associated with high lipoprotein (a) levels and increased aortic valve calcium in a Mexican adult population. Gen Molec Biol 2019;42:519-525.
    36. Kronenberg F. Lipoprotein (a). In: A von Eckardstein CJ. Binder, eds. Prevention and Treatment of Atherosclerosis: Improving State-of-the-Art Management and Search for Novel Targets. Cham: Springer, 2021:201-232.
    37. Wang X, Wang H, Xu B, et al. Receptor-mediated ER export of lipoproteins controls lipid homeostasis in mice and humans. Cell Metab 2021;33:350.e7-366.e7.
    38. Ference BA, Kastelein JJP, Ray KK, et al. Association of triglyceride-lowering LPL variants and LDL-C-lowering LDLR variants with risk of coronary heart disease. JAMA 2019;321:364-373.
    39. Tromp TR, Ibrahim S, Nurmohamed NS, et al. Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia. Atherosclerosis 2023;365:27-33.
    40. Pechlivanis S, Mahabadi AA, Hoffmann P, et al. Association between lipoprotein(a) (Lp(a)) levels and Lp(a) genetic variants with coronary artery calcification. BMC Med Genet 2020;21:62.
    41. Ugovšek S, Šebeštjen M. Lipoprotein (a) - The crossroads of atherosclerosis, atherothrombosis and inflammation. Biomolecules 2021;12:26.
    42. Alebna PL, Han CY, Ambrosio M, et al. Association of lipoprotein(a) with major adverse cardiovascular events across hs-CRP: A systematic review and meta-analysis. JACC Adv 2024;3:101409.
    43. Yan J, Pan Y, Xiao J, et al. High level of lipoprotein(a) as predictor for recurrent heart failure in patients with chronic heart failure: A cohort study. Arq Bras Cardiol 2019;113:197-204.
    44. McTiernan CF, Lemster BH, Bedi KC, et al. Circadian pattern of ion channel gene expression in failing human hearts. Circulation: Arrhythmia Electrophysiol 2021;14:e009254.
    45. Adler A, Novelli V, Amin AS, et al. An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome. Circulation 2020;141:418-428.
    46. Specterman MJ, Behr ER. Cardiogenetics: The role of genetic testing for inherited arrhythmia syndromes and sudden death. Heart 2023;109:434-441.
    47. Wallace E, Howard L, Liu M, et al. Long QT syndrome: Genetics and future perspective. Pediatric Cardiol 2019;40:1419-1430.
    48. Merkhatuly N, Iskanderov A, Abeuova S, et al. Introduction of Electron Donor Groups into the Azulene Structure: The Appearance of Intense Absorption and Emission in the Visible Region. Mol 2024;29:3354.
    49. Gerasymchuk PO, Fira DB, Pavlyshyn AV. Assessment of quality of life related with health in the medicine. Bull Med Biol Res 2021;3:112-122.
    50. Muntian L. Virtual and augmented reality in healthcare management mechanisms for maintaining public health: Literature overview. Ukr J Med Biol Sport 2025;10:36-50.
    51. Tobert KE, Tester DJ, Zhou W, et al. Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant. Heart Rhythm 2022;19:998-1007.
    52. Lahrouchi N, Tadros R, Crotti L, et al. Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome. Circulation 2020;142:324-338.
    53. Anduaga I, Affronti A, Cepas-Guillén P, et al. Non-Pharmacological Stroke Prevention in Atrial Fibrillation. J Clin Med 2023;12:5524.
    54. Kutuzova LG, Marushchak MI. Sleep as a regulator of the body health. Bull Med Biol Res 2021;3:123-125.
    55. Shevchenko O, Holovkova T, Onul N, et al. Preventive medicine as a component of objective structured clinical examination. Ukr J Med Biol Sport 2023;8:258-264.
    56. Ingles J, Semsarian C. Time to rethink the genetic architecture of long QT syndrome. Circulation 2020;141:440-443.
    57. Timothy KW, Bauer R, Larkin KA, et al. A natural history study of Timothy syndrome. Orphanet J Rare Diseases 2024; 19:433.
    58. Cerrone M, Costa S, Delmar M. The genetics of Brugada syndrome. An Rev Genom Hum Gen 2022;23:255-274.
    59. Moras E, Gandhi K, Narasimhan B, et al. Genetic and molecular mechanisms in brugada syndrome. Cells 2023;12:1791.
    60. Popa IP, Șerban DN, Mărănducă MA, et al. Brugada syndrome: From molecular mechanisms and genetics to risk stratification. Int J Molec Sci 2023;24:3328.
    61. Raschwitz LS, El-Battrawy I, Schlentrich K, et al. Differences in short QT syndrome subtypes: A systematic literature review and pooled analysis. Front Gen 2020;10:1312.
    62. Napolitano C, Mazzanti A, Bloise R, Priori SG. Catecholaminergic polymorphic ventricular tachycardia. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews. Seattle: University of Washington, 2022.
    63. Walsh R, Adler A, Amin AS, et al. Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death. Eur Heart J 2022;43:1500-1510.
    64. Abbas M, Miles C, Behr E. Catecholaminergic polymorphic ventricular tachycardia. Arrhythm Electrophysiol Rev 2022;11:e20.
    65. Andreasen L, Ahlberg G, Ægisdottir HM, et al. Genetic variants close to TTN, NKX2-5, and MYH6 associate with AVNRT. Circ Res 2022;131:862-865.
    66. Luo R, Zheng C, Yang H, et al. Identification of potential candidate genes and pathways in atrioventricular nodal reentry tachycardia by whole-exome sequencing. Clin Transl Med 2020;10:238-257.
    67. Weng LC, Khurshid S, Hall AW, et al. Meta-analysis of genome-wide association studies reveals genetic mechanisms of supraventricular arrhythmias. Circ Genom Precis Med 2024;17:e004320.
    68. Bezzerides VJ, Caballero A, Wang S, et al. Gene therapy for catecholaminergic polymorphic ventricular tachycardia by inhibition of Ca2+/calmodulin-dependent kinase II. Circulation 2019;140:405-419.
    69. Pérez PR, Hylind RJ, Roston TM, et al. Gene therapy for catecholaminergic polymorphic ventricular tachycardia. Heart, Lung Circ 2023;32:790-797.
    70. Masna Z, Sergienko V, Zhurakivska O, et al. The problem of "norm" in modern medicine - trends of individual reconstruction of the human organism and new opportunities of research in the context of academic integrity. Proceed Shevchenko Sci Soc Med Sci 2024;73:1-10.
    71. Bongianino R, Denegri M, et al. Allele specific silencing of mutant mRNA rescues catecholaminergic polymorphic ventricular tachycardia in mice. Circ Res 2017;121:1112-1121.
    72. Lisiecka MZ. Efficacy of Subcutaneous, Sublingual and Oral Immunotherapy for Allergens: A Comparative Study. Immun 2025;174:423-433.
    73. Niyazbekova L, Cattolico A, Geneva-Popova M, et al. Legal aspects of safety in medical procedures: international standards and practices. Med Law Soc 2025;18:261-288.
    74. Affronti A, Ruel M, Gaudino MFL. Multiarterial coronary artery bypass grafting: Is the radial artery fulfilling the unkept promise of the right internal thoracic artery? Curr Opin Cardiol 2019;34:628-636.

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