Preview

Rational Pharmacotherapy in Cardiology

Advanced search

Hypertrophic Cardiomyopathy and Connective Tissue Dysplasia Syndrome: Comorbidity Variants

https://doi.org/10.20996/1819-6446-2016-12-5-522-527

Full Text:

Abstract

Aim. To study the structure of co-morbidities, especially connective tissue undifferentiated dysplasia syndrome (CTDS), in patients with hypertrophic cardiomyopathy (HCM) to develop an algorithm of complex examination of patients.

Material and methods. Patients with HCM (n=186; 88 men and 78 women) were examined. The diagnosis of HCM was based on current guidelines; molecular genetic study was performed in the absence of phenotypic manifestations. Echocardiography and standard examination of cardiac patient were performed in all patients to identify comorbidities. Genotyping of polymorphisms of 12 modifying genes was performed in 61 patients and 61 people in the control group.

Results. HCM was most often associated with uterine myoma (52%), cardiac and extracardiac congenital malformations (50%), and thyroid diseases (37%). Combination of HCM with different variants of connective tissue dysplasia was found in 17% of patients (mitral valve prolapse – 6.3%, tricuspid valve prolapse – 2.7%, supplemental chords – 4.5%, bivalve aortic disease – 1.8%, increased left ventricular trabeculation – 3.6%, atrial septal aneurysm – 3.6%, membranous ventricular septal defect – 1.8%).

Conclusion. CTDS is one of the most often associated disorders in patients with HCM. The study of the association of CTDS and HCM, the nature of their genetic structure and similarity of pathogenesis require further study.

About the Authors

Yu. N. Belenkov
I.M. Sechenov First Moscow State Medical University. Trubetskaya ul. 8-2, Moscow, 119991 Russia
Russian Federation

MD, PhD, Professor, Academician of the Russian Academy of Science, Head of the Chair of Hospital Therapy, I.M. Sechenov First Moscow State Medical University



E. V. Privalova
I.M. Sechenov First Moscow State Medical University. Trubetskaya ul. 8-2, Moscow, 119991 Russia
Russian Federation

MD, PhD, Professor of the Chair of Hospital Therapy, I.M. Sechenov First Moscow State Medical University



V. Yu. Kaplunova
I.M. Sechenov First Moscow State Medical University. Trubetskaya ul. 8-2, Moscow, 119991 Russia
Russian Federation

MD, PhD, Leading Researcher, Research and Education Clinical Center “Metabolic Syndrome”, I.M. Sechenov First Moscow State Medical University



I. S. Chekneva
I.M. Sechenov First Moscow State Medical University. Trubetskaya ul. 8-2, Moscow, 119991 Russia
Russian Federation

MD, PhD, Teaching Assistant, Chair of Hospital Therapy, I.M. Sechenov First Moscow State Medical University



Yu. I. Najmann
I.M. Sechenov First Moscow State Medical University. Trubetskaya ul. 8-2, Moscow, 119991 Russia
Russian Federation

MD, PhD, Head of Cardiology Unit, University Clinical Hospital #1, I.M. Sechenov First Moscow State Medical University



M. V. Kozhevnikova
I.M. Sechenov First Moscow State Medical University. Trubetskaya ul. 8-2, Moscow, 119991 Russia
Russian Federation

MD, PhD, Teaching Assistant, Chair of Hospital Therapy, I.M. Sechenov First Moscow State Medical University



G. A. Shakaryants
I.M. Sechenov First Moscow State Medical University. Trubetskaya ul. 8-2, Moscow, 119991 Russia
Russian Federation

MD, PhD, Teaching Assistant, Chair of Hospital Therapy, I.M. Sechenov First Moscow State Medical University



A. S. Lishuta
I.M. Sechenov First Moscow State Medical University. Trubetskaya ul. 8-2, Moscow, 119991 Russia
Russian Federation

MD, PhD, Associate Professor, Chair of Hospital Therapy, I.M. Sechenov First Moscow State Medical University



References

1. Ramaraj R. Hypertrophic cardiomyopathy: etiology, diagnosis, and treatment. Cardiol Rev 2008;16: 172-80.

2. Bokeria LA, Borisov KV, Sinev AF, Savchenko ED. The risk of sudden death in patients with hypertrophic cardiomyopathy. Grudnaja i serdechno-sosudistaja hirurgija 2001; 1: 61-70. In Russian (Бокерия Л.А, Борисов К.В., Синев А.Ф., Савченко Е.Д. Риск внезапной смерти у больных гипертрофической кардиомиопатией. Грудная и сердечно-сосудистая хирургия 2001; 1: 61-70).

3. Zemtsovsky EV. Connective heart dysplasia. St. Petersburg: Polyteh; 2000. In Russian (Земцовский Э.В. Соединительнотканные дисплазии сердца. СПб.: Политекс; 2000).

4. Zemtsovsky EV, Malev EG. Small and dysplastic abnormalities of the heart phenotypes. St. Petersburg: IVESEP; 2012. In Russian (Земцовский Э. В., Малев Э.Г. Малые аномалии сердца и диспластические фенотипы. СПб.: ИВЭСЭП; 2012).

5. Zemtsovsky EV. Mitral valve prolapse. St. Petersburg: Общество «Знание»; 2010. In Russian (Земцовский Э. В. Пролапс митрального клапана. СПб.: Общество «Знание»; 2010).

6. Kadurina TI, Gorbunova VN. Connective tissue dysplasia. Guidelines for doctors. St. Petersburg: Elbi-SPB; 2009. In Russian (Кадурина Т.И., Горбунова В.Н. Дисплазия соединительной ткани. Руководство для врачей. СПб.: Элби -СПБ; 2009).

7. Maron B.J., Casey S. A., Hauser R. G. et al. Clinical course of hypertrophic cardiomyopathy with survival to advanced age. J Am Coll Cardiol 2003; 42(5): 882 -8.

8. Maron BJ, Casey SA, Hurrell DG, Aeppli DM. Relation of left ventricular thickness to age and gender in hypertrophic cardiomyopathy. Am J Cardiol 2003; 91: 626-8.

9. Mogensen J, Klausen LC, Pedersen AK et al. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. Clin Invest 1999; 103: R39-43.

10. Mogensen J., Murphy R.T., Kubo T. et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. JACC 2004; 44(12): 2315- 225.

11. Monserrat L., Hermida-Prieto M., Fernandez X. et al., Mutation in the alpha-cardiac acting gene associated with apical hypertrophic cardiomyopathy, left ventricular non- compaction, and septal defects. Eur Heart J 2007; 28, 1953 -61.

12. Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy. Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227- 32.

13. Kalmikova AS Bases of formation of children's health. Moscow: GEOTAR MEDIA; 2015. In Russian (Калмыкова А.С. Основы формирования здоровья детей. М.: ГЭОТАР-МЕДИА; 2015).

14. Alekseev AA, Titov OV. Connective biology and medicine of the 21st century based on the universal law of the trinity. Moscow: Mir; 1997. In Russian (Алексеев А.А., Титов О.В. Соединительнотканная биология и медицина 21 века на основе всеобщего закона триединства. М.: Мир; 1997).

15. Hereditary disorders of connective tissue. Russian recommendations (revision 2012). Kardiovaskuljarnaja terapija i profilaktika 2009; 8 (6) suppl 5: 1-24. In Russian (Наследственные нарушения соединительной ткани. Российские рекомендации (пересмотр 2012 г). Кардиоваскулярная терапия и профилактика 2009; 8(6) приложение 5: 1-24).

16. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. Eur Heart J 2014;35(39):2733-79


For citation:


Belenkov Y.N., Privalova E.V., Kaplunova V.Y., Chekneva I.S., Najmann Y.I., Kozhevnikova M.V., Shakaryants G.A., Lishuta A.S. Hypertrophic Cardiomyopathy and Connective Tissue Dysplasia Syndrome: Comorbidity Variants. Rational Pharmacotherapy in Cardiology. 2016;12(5):522-527. (In Russ.) https://doi.org/10.20996/1819-6446-2016-12-5-522-527

Views: 469


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1819-6446 (Print)
ISSN 2225-3653 (Online)