Список литературы

[1] Ommen SR., Mital S., Burke MA., Day SM., Deswal A., Elliott P., Evanovich LL., Hung J., Joglar JA., Kantor P., et al. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol 2020; 76(25): e159–240. Doi: 10.1016/j.jacc.2020.08.045.

[2] Writing Committee Members., Ommen SR., Ho CY., Asif IM., Balaji S., Burke MA., Day SM., Dearani JA., Epps KC., Evanovich L., et al. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol 2024; 83(23): 2324–405. Doi: 10.1016/j.jacc.2024.02.014.

[3] Elliot P., Zamorano JL., Anastasakis A., Borger MA., Borggrefe M., Cecchi F., Charron P., Hagege AA., Lafont A., Limongelli G., et al. 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: The task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014; 35(39): 2733–79. Doi: 10.1093/eurheartj/ehu284.

[4] Lipshultz SE., Law YM., Asante-Korang A., Austin ED., Dipchand AI., Everitt MD., Hsu DT., Lin KY., Price JF., Wilkinson JD., et al. Cardiomyopathy in Children: Classification and Diagnosis: A Scientific Statement From the American Heart Association. Circulation 2019; 140(1): E9–68. Doi: 10.1161/CIR.0000000000000682.

[5] Bogle C., Colan SD., Miyamoto SD., Choudhry S., Baez-Hernandez N., Brickler MM., Feingold B., Lal AK., Lee TM., Canter CE., et al. Treatment Strategies for Cardiomyopathy in Children: A Scientific Statement From the American Heart Association. Circulation 2023; 148(2): Epub ahead of print. Doi: 10.1161/CIR.0000000000001151.

[6] Gurschenkov A., Andreeva S., Zaitsev V., Khazov P., Ischmukhametov G., Kozyreva A., Sokolnikova P., Moiseeva O., Kostareva A., Gordeev M. Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson-Fabry Disease. J Cardiovasc Dev Dis 2024; 11(9): 293. Doi: 10.3390/JCDD11090293.

[7] Colan SD., Lipshultz SE., Lowe AM., Sleeper LA., Messere J., Cox GF., Lurie PR., Orav EJ., Towbin JA. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation 2007; 115(6): 773–81. Doi: 10.1161/CIRCULATIONAHA.106.621185.

[8] Monda E., Rubino M., Lioncino M., Di Fraia F., Pacileo R., Verrillo F., Cirillo A., Caiazza M., Fusco A., Esposito A., et al. Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes. Front Pediatr 2021; 9: 632293. Doi: 10.3389/FPED.2021.632293.

[9] Фетисова СГ., Мельник ОВ., Фомичева ЮВ., Сокольникова ПС., Аббясова ВГ., Федорова ОВ., Костарева АА., Васичкина ЕС. Сравнительная информативность применения различных таргетных панелей при генетической диагностике гипертрофической кардиопатии у детей. Трансляционная Медицина 2025; 12(1): 6–14.

[10] Limongelli G., Adorisio R., Baggio C., Bauce B., Biagini E., Castelletti S., Favilli S., Imazio M., Lioncino M., Merlo M., et al. Diagnosis and Management of Rare Cardiomyopathies in Adult and Paediatric Patients. A Position Paper of the Italian Society of Cardiology (SIC) and Italian Society of Paediatric Cardiology (SICP). Int J Cardiol 2022; 357: 55–71. Doi: 10.1016/J.IJCARD.2022.03.050.

[11] Alfares AA., Kelly MA., McDermott G., Funke BH., Lebo MS., Baxter SB., Shen J., McLaughlin HM., Clark EH., Babb LJ., et al. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: Expanded panels offer limited additional sensitivity. Genet Med 2015; 17(11): 880–8. Doi: 10.1038/gim.2014.205.

[12] Ingles J., Sarina T., Yeates L., Hunt L., Macciocca I., Mccormack L., Winship I., Mcgaughran J., Atherton J., Semsarian C. Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. Genet Med 2013; 15(12): 972–7. Doi: 10.1038/GIM.2013.44.

[13] Geisterfer-Lowrance AAT., Kass S., Tanigawa G., Vosberg HP., McKenna W., Seidman CE., Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990; 62(5): 999–1006. Doi: 10.1016/0092-8674(90)90274-I.

[14] Seidman JG., Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001; 104(4): 557–67. Doi: 10.1016/S0092-8674(01)00242-2.

[15] Seidman CE., Seidman JG. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res 2011; 108(6): 743–50. Doi: 10.1161/CIRCRESAHA.110.223834.

[16] Liew AC., Vassiliou VS., Cooper R., Raphael CE. Hypertrophic Cardiomyopathy-Past, Present and Future. J Clin Med 2017; 6(12): 118. Doi: 10.3390/JCM6120118.

[17] Maron BA., Wang RS., Carnethon MR., Rowin EJ., Loscalzo J., Maron BJ., Maron MS. What Causes Hypertrophic Cardiomyopathy? Am J Cardiol 2022; 179: 74–82. Doi: 10.1016/j.amjcard.2022.06.017.

[18] Maron BJ., Ommen SR., Semsarian C., Spirito P., Olivotto I., Maron MS. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. J Am Coll Cardiol 2014; 64(1): 83–99. Doi: 10.1016/J.JACC.2014.05.003.

[19] Шляхто ЕВ., Семернин ЕН., Гудкова АЯ., Костарева АА. Первичные кардиомиопатии, современное представление. Терапевтический Архив 2005; 77(12): 77–83.

[20] Gersh BJ., Maron BJ., Bonow RO., Dearani JA., Fifer MA., Link MS., Naidu SS., Nishimura RA., Ommen SR., Rakowski H., et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: Executive summary: A report of the American College of cardiology foundation/American heart association task force on practice guidelines. Circulation 2011; 124(24): 2761–96. Doi: 10.1161/CIR.0b013e318223e230.

[21] Kelly MA., Caleshu C., Morales A., Buchan J., Wolf Z., Harrison SM., Cook S., Dillon MW., Garcia J., Haverfield E., et al. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel. Genet Med 2018; 20(3): 351–9. Doi: 10.1038/gim.2017.218.

[22] Lopes LR., Murphy C., Syrris P., Dalageorgou C., McKenna WJ., Elliott PM., Plagnol V. Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy. Eur J Med Genet 2015; 58(11): 611–6. Doi: 10.1016/j.ejmg.2015.10.001.

[23] Maron BJ., Maron MS., Maron BA., Loscalzo J. Moving Beyond the Sarcomere to Explain Heterogeneity in Hypertrophic Cardiomyopathy: JACC Review Topic of the Week. J Am Coll Cardiol 2019; 73(15): 1978–86. Doi: 10.1016/j.jacc.2019.01.061.

[24] Zhou N., Qin S., Liu Y., Tang L., Zhao W., Pan C., Qiu Z., Wang X., Shu X. Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy. Eur J Med Genet 2018; 61(8): 434–41. Doi: 10.1016/j.ejmg.2018.03.001.

[25] Давыдова ВГ., Гудкова АЯ., Крутиков АН., Полякова АА., Костарева АА. Клинические, морфологические и генетические характеристики пациентов молодого возраста с гипертрофической кардиомиопатией, имеющих показания к имплантации кардиовертера-дефибриллятора. Российский Кардиологический Журнал 2024; 29(11): 5994. Doi: https://doi.org/10.15829/1560-4071-2024-5994.

[26] Kostareva A., Gudkova A., Sjöberg G., Mörner S., Semernin E., Krutikov A., Shlyakhto E., Sejersen T. Deletion in TNNI3 gene is associated with restrictive cardiomyopathy. Int J Cardiol 2009; 131(3): 410–2. Doi: 10.1016/j.ijcard.2007.07.108.

[27] Туральчук МВ., Новик ГА., Гудкова АЯ. Особенности течения кардиомиопатий с рестриктивным фенотипом, обусловленных мутациями генов сердечного тропонина I и десмина, и алгоритмы их диагностики. Педиатрическая Фармакология 2011; 8(4): 112–6.

[28] Ho CY., Day SM., Colan SD., Russell MW., Towbin JA., Sherrid M V., Canter CE., Jefferies JL., Murphy AM., Cirino AL., et al. The burden of early phenotypes and the influence of wall thickness in hypertrophic cardiomyopathy mutation carriers: Findings from the HCMNet study. JAMA Cardiol 2017; 2(4): 419–28. Doi: 10.1001/jamacardio.2016.5670.

[29] Tsaturyan AK., Zaklyazminskaya E V., Polyak ME., Kopylova G V., Shchepkin D V., Kochurova AM., Gonchar AD., Kleymenov SY., Koubasova NA., Bershitsky SY., et al. De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy. Int J Mol Sci 2022; 24(1): 18. Doi: 10.3390/IJMS24010018.

[30] Ansari-Lari MA., Ali SZ. Fine-Needle Aspiration of Abdominal Fat Pad for Amyloid Detection: A Clinically Useful Test? Diagn Cytopathol 2004; 30(3): 178–81. Doi: 10.1002/dc.10370.

[31] Canepa M., Sorensen LL., Pozios I., Dimaano VL., Luo HC., Pinheiro AC., Strait JB., Brunelli C., Abraham MR., Ferrucci L., et al. Comparison of clinical presentation, left ventricular morphology, hemodynamics, and exercise tolerance in obese versus nonobese patients with hypertrophic cardiomyopathy. Am J Cardiol 2013; 112(8): 1182–9. Doi: 10.1016/j.amjcard.2013.05.070.

[32] Hodatsu A., Konno T., Hayashi K., Funada A., Fujita T., Nagata Y., Fujino N., Kawashiri MA., Yamagishi M. Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: Evidence from patients and zebrafish models. Am J Physiol - Hear Circ Physiol 2014; 307(11): H1594–604. Doi: 10.1152/ajpheart.00637.2013.

[33] Charron P., Arad M., Arbustini E., Basso C., Bilinska Z., Elliott P., Helio T., Keren A., McKenna WJ., Monserrat L., et al. Genetic counselling and testing in cardiomyopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2010; 31(22): 2715–28. Doi: 10.1093/eurheartj/ehq271.

[34] Finocchiaro G., Magavern E., Sinagra G., Ashley E., Papadakis M., Tome-Esteban M., Sharma S., Olivotto I. Impact of demographic features, lifestyle, and comorbidities on the clinical expression of hypertrophic cardiomyopathy. J Am Heart Assoc 2017; 6(12): e007161. Doi: 10.1161/JAHA.117.007161.

[35] Blagova O., Alieva I., Kogan E., Zaytsev A., Sedov V., Chernyavskiy S., Surikova Y., Kotov I., Zaklyazminskaya E V. Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time. Front Pharmacol 2020; 11: 579450. Doi: 10.3389/FPHAR.2020.579450.

[36] Pasquale F., Syrris P., Kaski JP., Mogensen J., McKenna WJ., Elliott P. Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. Circ Cardiovasc Genet 2012; 5(1): 10–7. Doi: 10.1161/CIRCGENETICS.111.959973.

[37] Maron BJ., Kragel AH., Roberts WC. Sudden death in hypertrophic cardiomyopathy with normal left ventricular mass. Br Heart J 1990; 63(5): 308–10. Doi: 10.1136/HRT.63.5.308.

[38] Walsh R., Buchan R., Wilk A., John S., Felkin LE., Thomson KL., Chiaw TH., Loong CCW., Pua CJ., Raphael C., et al. Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. Eur Heart J 2017; 38(46): 3461–8. Doi: 10.1093/EURHEARTJ/EHW603.

[39] Hypertrophic Cardiomyopathy Gene Curation Expert Panel - ClinGen | Clinical Genome Resource. https://clinicalgenome.org/affiliation/40008/. [accessed July 25, 2023].

[40] Marian AJ., Braunwald E. Hypertrophic cardiomyopathy: Genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res 2017; 121(7): 749–70. Doi: 10.1161/CIRCRESAHA.117.311059.

[41] Ingles J., Goldstein J., Thaxton C., Caleshu C., Corty EW., Crowley SB., Dougherty K., Harrison SM., McGlaughon J., Milko L V., et al. Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genomic Precis Med 2019; 12(2): 57–64. Doi: 10.1161/CIRCGEN.119.002460.

[42] Bagnall RD., Ingles J., Dinger ME., Cowley MJ., Ross SB., Minoche AE., Lal S., Turner C., Colley A., Rajagopalan S., et al. Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. J Am Coll Cardiol 2018; 72(4): 419–29. Doi: 10.1016/J.JACC.2018.04.078.