Genetic and clinical predictors associated with the development of calcified aortic stenosis
Authors:
Company: Bakoulev National Medical Research Center for Cardiovascular Surgery, Moscow, Russian Federation
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Type: Reviews
DOI:
For citation: Petrosian K.V., Dadabaev G.M., Slivneva I.V., Chobanyan M.A. Genetic and clinical predictors associated with the development of calcified aortic stenosis. Creative Cardiology. 2024; 18 (3): 309–316 (in Russ.). DOI: 10.24022/1997-3187-2024-18-3- 309-316
Received / Accepted: 06.05.2024 / 31.06.2024
Keywords: calcified aortic valve stenosis genetic predisposition aortic valve factors in the progression of aortic stenosis
Abstract
Calcified aortic valve stenosis is one of the most frequent pathology in patients over 65 years and ranks first among heart valve diseases with an increasing prevalence due to the aging of the population. In spite of the fact that recently much attention has been focused on in-depth study of molecular mechanisms of calcified aortic stenosis progression, the predictors of its progression have not been identified yet, and algorithms for preventing or inhibiting the progression of this pathology have not been developed. The review considers the main molecular and pathogenetic mechanisms, as well as the significance of clinical risk factors in the formation of this valve pathology.References
- Nesukay E.G., Ilyash M.G. Acquired heart defects. Handbook of cardiology. Ed. by V.N. Kovalenko. Kiev; 2008.
- Généreux P., Stone G.W., O’Gara P.T., Marquis-Gravel G., Redfors B., Giustino G. et al. Natural history, diagnostic approaches, and therapeutic strategies for patients with asymptomatic severe aortic stenosis. J. Am. Coll. Cardiol. 2016; 67 (19): 2263–2288. DOI: 10.1016/j. jacc.2016.02.057
- Otto C.M., Prendergast B. Aortic-valve stenosis – from patients at risk to severe valve obstruction. N. Engl. J. Med. 2014; 371 (8): 744–756. DOI: 10.1056/NEJMra1313875
- Olofinskaya I.E., Goncharuk Yu.V., Volkovskaya I.V., Dumpe A.N., Nikonov S.F., Muratov R.M., Skopin I.I. Analysis of the quality of life and the results of surgical treatment of critical aortic stenosis under extracorporeal circulation in patients of elderly groups. Russian Journal of Thoracic and Cardiovascular Surgery. 2019; 61 (5): 436–442 (in Russ.). DOI: 10.24022/0236-2791-2019-61-5-436-442
- Eveborn G.W., Schirmer H., Lunde P., Rasmussen K. The evolving epidemiology of valvular aortic stenosis: the Tromsø study. Heart. 2013; 99 (6): 396–400. DOI: 10.1136/heartjnl-2012-302265
- Khubulava G.G., Gulyaev N.I., Kravchuk V.N., Lyubimov A.I., Volkov A.M., Sizenko V.V., Abdulaev Z.M. Incidence of degenerative aortic stenosis in the patterns of valvular heart disease. Russian Journal of Thoracic and Cardiovascular Surgery. 2018; 60 (1): 28–35 (in Russ.). DOI: 10.24022/0236-2791-2018-60-1-28-35.
- Iung B., Gohlke-Bärwolf C., Tornos P., Tribouilloy C., Hall R., Butchart E., Vahanian A. Working group on valvular heart disease. recommendations on the management of the asymptomatic patient with valvular heart disease. Eur. Heart J. 2002; 23 (16): 1253–1266. DOI: 10.1053/euhj.2002.3320
- Braunwald E. On the natural history of severe aortic stenosis. J. Am. Coll. Cardiol. 1990; 15 (5): 1018–1020. DOI: 10.1016/0735-1097(90)90235-h
- Pellikka P.A., Sarano M.E., Nishimura R.A., Malouf J.F., Bailey K.R., Scott C.G. et al. Outcome of 622 adults with asymptomatic, hemodynamically significant aortic stenosis during prolonged follow-up. Circulation. 2005; 111 (24): 3290–3295. DOI: 10.1161/CIRCULATIONAHA.104.495903
- Kodali S.K., Williams M.R., Smith C.R., Svensson L.G., Webb J.G., Makkar R.R. et al. PARTNER trial investigators. Two-year outcomes after transcatheter or surgical aortic-valve replacement. N. Engl. J. Med. 2012; 366 (18): 1686–1695. DOI: 10.1056/NEJMoa1200384
- Li C., Xu S., Gotlieb A.I. The response to valve injury. A paradigm to understand the pathogenesis of heart valve disease. Cardiovasc. Pathol. 2011; 20 (3): 183–190. DOI: 10.1016/j.carpath.2010.09.008 li>Shostak N.A., Karpova N.Yu., Rashid M.A., Kazakova T.V. Calcification of the aortic valve and bone metabolism in the elderly. Kardiologiia. 2006; 46 (7): 70–71 (in Russ.).
- An Y., Wang Y.T., Ma Y.T., Wulasihan M., Huang Y. Adi D. et al. IL-10 genetic polymorphisms were associated with valvular calcification in Han, Uygur and Kazak populations in Xinjiang, China. PLoS One. 2015; 10 (6). DOI: 10.1371/journal.pone.0128965
- Martynovich T.V., Akimova N.S., Fedotov E.A., Shvarts Yu.G. Gene polymorphism in association with atherosclerosis development and cognition disorders in patients with ischemic chronic heart failure. Cardiovascular Therapy and Prevention. 2015; 14 (1): 30–34 (in Russ.). DOI: 10.15829/1728-8800-2015-1-30-34
- Siu S.C., Silversides C.K. Bicuspid aortic valve disease. J. Am. Coll. Cardiol. 2010; 55 (25): 2789–2800. DOI: 10.1016/j.jacc.2009.12.068.
- Michelena H.I., Prakash S.K., Della Corte A., Bissell M.M., Anavekar N., Mathieu P. et al. Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon). Circulation. 2014; 129 (25): 2691–2704. DOI: 10.1161/CIRCULATIONAHA.113.007851
- Padang R., Bannon P.G., Jeremy R., Richmond D.R., Semsarian C., Vallely M. et al. The genetic and molecular basis of bicuspid aortic valve associated thoracic aortopathy: a link to phenotype heterogeneity. Ann. Cardiothorac. Surg. 2013; 2 (1): 83–91. DOI: 10.3978/j. issn.2225-319X.2012.11.17
- Garg V., Muth A.N., Ransom J.F., Schluterman M.K., Barnes R., King I.N. et al. Mutations in NOTCH1 cause aortic valve disease. Nature. 2005; 437 (7056): 270–274. DOI: 10.1038/nature03940
- Dweck M.R., Boon N.A., Newby D.E. Calcific aortic stenosis: a disease of the valve and the myocardium. J. Am. Coll. Cardiol. 2012; 60 (19): 1854–1863. DOI: 10.1016/j.jacc.2012.02.093
- Maher E.R., Young G., Smyth-Walsh B., Pugh S., Curtis J.R. Aortic and mitral valve calcification in patients with end-stage renal disease. Lancet. 1987; 2 (8564): 875–877. DOI: 10.1016/s0140-6736(87)91370-5
- Vattikuti R., Towler D.A. Osteogenic regulation of vascular calcification: an early perspective. Am. J. Physiol. Endocrinol. Metab. 2004; 286 (5): 686–696. DOI: 10.1152/ajpendo.00552.2003
- Ortlepp J.R., Hoffmann R., Ohme F., Lauscher J., Bleckmann F., Hanrath P. The vitamin D receptor genotype predisposes to the development of calcific aortic valve stenosis. Heart. 2001; 85 (6): 635–638. DOI: 10.1136/heart.85.6.635
- Lindroos M., Kupari M., Valvanne J., Strandberg T., Heikkilä J., Tilvis R. Factors associated with calcific aortic valve degeneration in the elderly. Eur. Heart J. 1994; 15 (7): 865–870. DOI: 10.1093/oxfordjournals.eurheartj.a060602
- Linhartová K., Veselka J., Sterbáková G., Racek J., Topolcan O., Cerbák R. Parathyroid hormone and vitamin D levels are independently associated with calcific aortic stenosis. Circ. J. 2008; 72 (2): 245–250. DOI: 10.1253/circj.72.245
- Schmitz F., Ewering S., Zerres K., Klomfass S., Hoffmann R., Ortlepp J.R. Parathyroid hormone gene variant and calcific aortic stenosis. J. Heart Valve Dis. 2009; 18 (3): 262–267.
- Gaudreault N., Ducharme V., Lamontagne M., Guauque-Olarte S., Mathieu P., Pibarot P., Bossé Y. Replication of genetic association studies in aortic stenosis in adults. Am. J. Cardiol. 2011; 108 (9): 1305–1130. DOI: 10.1016/j.amjcard.2011.06.050
- Turkmen F., Ozdemir A., Sevinc C., Eren P.A, Demiral S. Calcium-sensing receptor gene polymorphisms and cardiac valvular calcification in patients with chronic renal failure: a pilot study. Hemodial. Int. 2009; 13 (2): 176–180. DOI: 10.1111/j.1542-4758.2009.00333.x
- Gotoh T., Kuroda T., Yamasawa M., Nishinaga M., Mitsuhashi T., Seino Y. et al. Correlation between lipoprotein(a) and aortic valve sclerosis assessed by echocardiography (the JMS Cardiac Echo and Cohort Study). Am. J. Cardiol. 1995; 76 (12): 928–932. DOI: 10.1016/s0002-9149(99)80263-x
- Rajamannan N.M. Calcific aortic stenosis: a disease ready for prime time. Circulation. 2006; 114 (19): 2007–2009. DOI: 10.1161/CIRCULATIONAHA.106.657759
- Ortlepp J.R., Schmitz F., Mevissen V., Weiss S., Huster J., Dronskowski R. The amount of calcium-deficient hexagonal hydroxyapatite in aortic valves is influenced by gender and associated with genetic polymorphisms in patients with severe calcific aortic stenosis. Eur. Heart J. 2004; 25 (6): 514–522. DOI: 10.1016/j.ehj.2003.09.006
- Yan A.T., Koh M., Chan K.K., Guo H., Alter D.A., Austin P.C. et al. Association between cardiovascular risk factors and aortic stenosis: the CANHEART aortic stenosis study. J. Am. Coll. Cardiol. 2017; 69 (12): 1523–1532. DOI: 10.1016/j.jacc.2017.01.025
- Shabalin A.V., Chibisova E.A., Vereshchagina G.N. Combination of calcinosis aortic valve stenosis degenerative genesis and arterial hypertension: modern estimation of prognostic, importance. Byulleten’ Sibirskogo Otdeleniya RAMN (Bulletin of the Siberian Branch of the Russian Academy of Medical Sciences). 2008; 3 (131): 5–8 (in Russ.).
- Rossebø A.B., Pedersen T.R., Boman K., Brudi P., Chambers J.B., Egstrup K. et al. Intensive lipid lowering with simvastatin and ezetimibe in aortic stenosis. N. Engl. J. Med. 2008; 359 (13): 1343–1356. DOI: 10.1056/NEJMoa0804602
- Cowell S.J., Newby D.E., Prescott R.J., Bloomfield P., Reid J., Northridge D.B., Boon N.A. Scottish aortic stenosis and lipid lowering trial, impact on regression (SALTIRE) investigators. A randomized trial of intensive lipid-lowering therapy in calcific aortic stenosis. N. Engl. J. Med. 2005; 352 (23): 2389–2397. DOI: 10.1056/NEJMoa043876
- Taniguchi T., Morimoto T., Shiomi H., Ando K., Kanamori N., Murata K. et al. CURRENT AS registry investigators. Initial surgical versus conservative strategies in patients with asymptomatic severe aortic stenosis. J. Am. Coll. Cardiol. 2015; 66 (25): 2827–2838. DOI: 10.1016/j. jacc.2015.10.001
- Aronow W.S., Ahn C., Kronzon I., Goldman M.E. Association of coronary risk factors and use of statins with progression of mild valvular aortic stenosis in older persons. Am. J. Cardiol. 2001; 88 (6): 693–695. DOI: 10.1016/s0002-9149(01)01821-5
- Kamalesh M., Ng C., El Masry H., Eckert G., Sawada S. Does diabetes accelerate progression of calcific aortic stenosis? Eur. J. Echocardiogr. 2009; 10 (6): 723-5. DOI: 10.1093/ejechocard/jep048
- Larsson S.C., Wallin A., Håkansson N., Stackelberg O., Bäck M., Wolk A. Type 1 and type 2 diabetes mellitus and incidence of seven cardiovascular diseases. Int. J. Cardiol. 2018; 262: 66–70. DOI: 10.1016/j.ijcard.2018.03.099
- Eveborn G.W., Schirmer H., Lunde P., Heggelund G., Hansen J.B., Rasmussen K. Assessment of risk factors for developing incident aortic stenosis: the Tromsø Study. Eur. J. Epidemiol. 2014; 29 (8): 567–575. DOI: 10.1007/s10654-014-9936-x
- O’Donoghue M.L., Morrow D.A., Tsimikas S., Sloan S., Ren A.F., Hoffman E.B. et al Lipoprotein(a) for risk assessment in patients with established coronary artery disease. J. Am. Coll. Cardiol. 2014; 63 (6): 520–527. DOI: 10.1016/j.jacc.2013.09.042
- Vongpromek R., Bos S., Ten Kate G.J., Yahya R., Verhoeven A.J., de Feyter P.J. et al. Lipoprotein(a) levels are associated with aortic valve calcification in asymptomatic patients with familial hypercholesterolaemia. J. Intern. Med. 2015; 278 (2): 166–173. DOI: 10.1111/joim.12335
- Thanassoulis G., Campbell C.Y., Owens D.S., Smith J.G., Smith A.V., Peloso G.M. et al. CHARGE extracoronary calcium working group. Genetic associations with valvular calcification and aortic stenosis. N. Engl. J. Med. 2013; 368 (6): 503–512. DOI: 10.1056/NEJMoa1109034
- Kamstrup P.R., Tybjærg-Hansen A., Nordestgaard B.G. Elevated lipoprotein(a) and risk of aortic valve stenosis in the general population. J. Am. Coll. Cardiol. 2014; 63 (5): 470–477. DOI: 10.1016/j.jacc.2013.09.038
- Avakian S.D., Annicchino-Bizzacchi J.M., Grinberg M., Ramires J.A., Mansura A.P. Apolipoproteins AI, B, and E polymorphisms in severe aortic valve stenosis. Clin. Genet. 2001; 60 (5): 381–384. DOI: 10.1034/j.1399-0004.2001.600511.x
- Wang Y.T., Li Y., Ma Y.T., Yang Y.N., Ma X., Li X.M. et al. Association between apolipoprotein B genetic polymorphism and the risk of calcific aortic stenosis in Chinese subjects, in Xinjiang, China. Lipids Health Dis. 2018; 17 (1): 40. DOI: 10.1186/s12944-018-0696-6
- Titteva T., Chumakova O., Baklanova T., Voloshina N., Brovkin A., Nikitin A. et al. Single nucleotide polymorphism C(-592)A of the interleukin-10 gene is associated with aortic stenosis. Kremlin Medicine. Clinical Bulletin. 2018; 1: 24–31 (in Russ.).
About Authors
- Karen V. Petrosian, Dr. Med. Sci., Head of Department; ORCID
- Gulamzhan M. Dadabaev, Cand. Med. Sci., Endovascular Surgeon; ORCID
- Inessa V. Slivneva, Cand. Med. Sci., Researcher, Ultrasonic Diagnostics Physician, Head of Cardiovisualization and Innovative Technologies Group; ORCID
- Meri A. Chobanyan, Postgraduate; ORCID