Кардиология: время генетики (по материалам конгресса «Генетика и сердце», 24–25 января 2020 года, Москва)

1. Charron P, Arad M, 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.
2. Ackerman М et al. HRS/EHRA Expert Consensus Statement on Genetic Testing. Heart Rhythm 2011; 8 (8).
3. Elliott PM, Anastasakis A, Borger MA 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.
4. Jan Haas et al. Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J 2015; 36: 1123–35.
5. Priori SG et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J 2015; 8 (9): 746–837.
6. Manonelles P et al. Estudio de la muertesúbita en deportistas españoles. Investig Cardiovasc 2006; 9 (1): 55–73.
7. Hayashi M et al. The spectrum of epidemiology underlying sudden cardiac death. Circ Res 2015; 116: 1887–906.
8. Monserrat L. Perspectives on current recommendations for genetic testing in HCM. GCSP 2018; 23.
9. Cerrone M, Priori SG. Genetics of sudden death: focus on inherited channelopathies. Eur Heart J 2011; 32: 2109–18. DOI: 10.1093/eurheartj/ehr082
10. Bezzina CR, Lahrouchi N, Priori SG. Genetics of Sudden Cardiac Death. Circulation 2015; 116: 1919–36. DOI: 10.1161/CIRCRESAHA.116.304030
11. Charron P, Carrier L, Dubourg O et al. Penetrance of familial hypertrophic cardiomyopathy. Genet Couns 1997; 8: 107–14.
12. Maron BJ, Maron MS, Semsarian C. Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. Heart Rhythm 2012; 9: 57–63. DOI:10.1016/j.hrthm.2011.08.009
13. Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008; 29: 270–6. DOI:10.1093/eurheartj/ehm342
14. Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet 2013; 381: 242–55. DOI: 10.1016/S0140-6736(12)60397-3
15. Garcia-Giustiniani D et al. Phenotype and prognostic correlations of the converter region mutations affecting the b myosin heavy chain. Heart 2015; 101: 1047–53.
16. Rapezzi C et al. Diagnostic work-up in cardiomyopathies: Bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2013; 34 (19): 1448–58.
17. Харлап М.С., Мясников Р.П., Павлунина Т.О. и др. Кардиологический фенотип болезни Фабри. Рос. кардиол. журн. 2018; 23 (7): 80–3.
[Kharlap M.S., Miasnikov R.P., Pavlunina T.O. et al. Kardiologicheskii fenotip bolezni Fabri. Ros. kardiol. zhurn. 2018; 23 (7): 80–3 (in Russian).]
18. Falk RJ et al. AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy. J Am Coll Cardiol 2016; 68: 1323–41.
19. Ochoa JP et al. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy. JAAC 2018; 72 (20).
20. Ochoa JP et al. Deletions of specific exons of FHOD3 detected by next-generation-sequencing are associated with hypertrophic cardiomyopathy. Clin Genetics 2020.
21. MyoKardia Announces Primary and All Secondary Endpoints Met in Phase 3 EXPLORER Clinical Trial of Mavacamten for the Treatment of Obstructive Hypertrophic Cardiomyopathy News relies.
22. Pelliccia A, Maron BJ, Culasso F et al. Clinical significance of abnormal electrocardiographic patterns in trained athletes. Circulation 2000; 102: 278–84.
23. Batzner A et al. Survival After Alcohol Septal Ablation in Patients With Hypertrophic Obstructive Cardiomyopathy. J Am Coll Cardiol 2018; 72: 3087–94.
24. Jefferies JL, Towbin JA. Dilated cardiomyopathy. Lancet 2010; 375: 752–62. DOI: 10.1016/S0140-6736(09)62023-7
25. Fernández X et al. Sudden Death in a Patient With Lamin A/C Gene Mutation and Near Normal Left Ventricular Systolic Function. Int J Cardiol 2008.
26. Ortiz Genga MF et al. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. J Am Coll Cardiol 2016; 68 (22).
27. López-Ayala JM et al. Desmoplakin truncation and ALVC: characterizing a phenotype. Europace 2014.
28. Гордеева М.В. и др. Аритмогенная кардиомиопатия/дисплазия правого желудочка как причина внезапной сердечной смерти молодых людей. Вестн. аритмологии. 2012; 69.
[Gordeeva M.V. et al. Aritmogennaia kardiomiopatiia/displaziia pravogo zheludochka kak prichina vnezapnoi serdechnoi smerti molodykh liudei. Vestn. aritmologii. 2012; 69 (in Russian).]
29. Fedyakov MA, Veleslavova OE, Romanova OV et al. New frameshift mutation found in PKP2 gene in arhythmogenic right ventricular cardiomyopathy/dysplasia: a family case study. Vestnik of Saint Petersburg University 2019; 14.
30. Arbustini et al. Human "Nuclear" Mitochondrial Cardiomyopathy a Novel Mouse Model Characterizes the Disease. JACC 2011.
31. Priori SG et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003; 348 (19): 1866–74.
32. Mazzanti A et al. Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome. J Am Coll Cardiol 2018; 71 (15): 1663–71.
33. 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society/ J Am Coll Cardiol. 2018 Oct 2;72(14):e91-e220. 
34. Соничева Н.А. Генетика и внезапная сердечная смерть. В кн.: Руководство по аритмологии. 2019.
[Sonicheva N.A. Genetika i vnezapnaia serdechnaia smert'. V kn.: Rukovodstvo po aritmologii. 2019 (in Russian).]
35. WHO. Innovative Care for Chronic Conditions: Building Blocks for Action. 2002.
36. Воинова В.Ю., Школьникова М.А., Найговзина Н.Б. Ресурсы оказания медицинской помощи больным с орфанными заболеваниями в различных странах. Доктор.Ру. 2018; 4 (148): 6–13.
[Voinova V.Iu., Shkol'nikova M.A., Naigovzina N.B. Resursy okazaniia meditsinskoi pomoshchi bol'nym s orfannymi zabolevaniiami v razlichnykh stranakh. Doktor.Ru. 2018; 4 (148): 6–13 (in Russian).]

________________________________________________

1. Charron P, Arad M, 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.
2. Ackerman М et al. HRS/EHRA Expert Consensus Statement on Genetic Testing. Heart Rhythm 2011; 8 (8).
3. Elliott PM, Anastasakis A, Borger MA 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.
4. Jan Haas et al. Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J 2015; 36: 1123–35.
5. Priori SG et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J 2015; 8 (9): 746–837.
6. Manonelles P et al. Estudio de la muertesúbita en deportistas españoles. Investig Cardiovasc 2006; 
9 (1): 55–73.
7. Hayashi M et al. The spectrum of epidemiology underlying sudden cardiac death. Circ Res 2015; 116: 1887–906.
8. Monserrat L. Perspectives on current recommendations for genetic testing in HCM. GCSP 2018; 23.
9. Cerrone M, Priori SG. Genetics of sudden death: focus on inherited channelopathies. Eur Heart J 2011; 32: 2109–18. DOI: 10.1093/eurheartj/ehr082
10. Bezzina CR, Lahrouchi N, Priori SG. Genetics of Sudden Cardiac Death. Circulation 2015; 116: 1919–36. DOI: 10.1161/CIRCRESAHA.116.304030
11. Charron P, Carrier L, Dubourg O et al. Penetrance of familial hypertrophic cardiomyopathy. Genet Couns 1997; 8: 107–14.
12. Maron BJ, Maron MS, Semsarian C. Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. Heart Rhythm 2012; 9: 57–63. DOI: 10.1016/j.hrthm.2011.08.009
13. Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008; 29: 270–6. DOI: 10.1093/eurheartj/ehm342
14. Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet 2013; 381: 242–55. DOI: 10.1016/S0140-6736(12)60397-3
15. Garcia-Giustiniani D et al. Phenotype and prognostic correlations of the converter region mutations affecting the b myosin heavy chain. Heart 2015; 101: 1047–53.
16. Rapezzi C et al. Diagnostic work-up in cardiomyopathies: Bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2013; 34 (19): 1448–58.
17. Kharlap M.S., Miasnikov R.P., Pavlunina T.O. et al. Kardiologicheskii fenotip bolezni Fabri. Ros. kardiol. zhurn. 2018; 23 (7): 80–3 (in Russian).
18. Falk RJ et al. AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy. J Am Coll Cardiol 2016; 68: 1323–41.
19. Ochoa JP et al. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy. JAAC 2018; 72 (20).
20. Ochoa JP et al. Deletions of specific exons of FHOD3 detected by next-generation-sequencing are associated with hypertrophic cardiomyopathy. Clin Genetics 2020.
21. MyoKardia Announces Primary and All Secondary Endpoints Met in Phase 3 EXPLORER Clinical Trial of Mavacamten for the Treatment of Obstructive Hypertrophic Cardiomyopathy News relies.
22. Pelliccia A, Maron BJ, Culasso F et al. Clinical significance of abnormal electrocardiographic patterns in trained athletes. Circulation 2000; 102: 278–84.
23. Batzner A et al. Survival After Alcohol Septal Ablation in Patients With Hypertrophic Obstructive Cardiomyopathy. J Am Coll Cardiol 2018; 72: 3087–94.
24. Jefferies JL, Towbin JA. Dilated cardiomyopathy. Lancet 2010; 375: 752–62. DOI: 10.1016/S0140-6736(09)62023-7
25. Fernández X et al. Sudden Death in a Patient With Lamin A/C Gene Mutation and Near Normal Left Ventricular Systolic Function. Int J Cardiol 2008.
26. Ortiz Genga MF et al. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. J Am Coll Cardiol 2016; 68 (22).
27. López-Ayala JM et al. Desmoplakin truncation and ALVC: characterizing a phenotype. Europace 2014.
28. Gordeeva M.V. et al. Aritmogennaia kardiomiopatiia/displaziia pravogo zheludochka kak prichina vnezapnoi serdechnoi smerti molodykh liudei. Vestn. aritmologii. 2012; 69 (in Russian).
29. Fedyakov MA, Veleslavova OE, Romanova OV et al. New frameshift mutation found in PKP2 gene in arhythmogenic right ventricular cardiomyopathy/dysplasia: a family case study. Vestnik of Saint Petersburg University 2019; 14.
30. Arbustini et al. Human "Nuclear" Mitochondrial Cardiomyopathy a Novel Mouse Model Characterizes the Disease. JACC 2011.
31. Priori SG et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003; 348 (19): 1866–74.
32. Mazzanti A et al. Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome. J Am Coll Cardiol 2018; 71 (15): 1663–71.
33. 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society/ J Am Coll Cardiol. 2018 Oct 2;72(14):e91-e220. 
34. Sonicheva N.A. Genetika i vnezapnaia serdechnaia smert'. V kn.: Rukovodstvo po aritmologii. 2019 (in Russian).
35. WHO. Innovative Care for Chronic Conditions: Building Blocks for Action. 2002.
36. Voinova V.Iu., Shkol'nikova M.A., Naigovzina N.B. Resursy okazaniia meditsinskoi pomoshchi bol'nym s orfannymi zabolevaniiami v razlichnykh stranakh. Doktor.Ru. 2018; 4 (148): 6–13 (in Russian).

Н.А. Соничева*1, Д.А. Затейщиков2,3

1 Международная генетическая лаборатория Health in Code, Ла Корунья, Испания;
2 ГБУЗ «Городская клиническая больница №51» Департамента здравоохранения г. Москвы, Москва, Россия;
3 ФГБОУ ДПО «Центральная государственная медицинская академия» Управления делами Президента РФ, Москва, Россия
*natalia.sonicheva@healthincode.com

________________________________________________

Natalia A. Sonicheva*1, Dmitry A. Zateyshchikov2,3

1 Health in Code, La Coruña, Spain;
2 City Clinical Hospital №51, Moscow, Russia;
3 Central State Medical Academy, Moscow, Russia
*natalia.sonicheva@healthincode.com