Preview

Rational Pharmacotherapy in Cardiology

Advanced search

RARE CASES OF HYPERTROPHIC CARDIOMYOPATHY: VARIANTS AND CLINICAL OBSERVATIONS

https://doi.org/10.20996/1819-6446-2014-10-1-49-54

Full Text:

Abstract

Hypertrophic cardiomyopathy belongs to a group of hereditary diseases due to sarcomere gene mutation. This abnormality is characterized by the development of symmetric or asymmetric hypertrophy of left ventricular myocardium with its normal contractile function or hypercontractility. Authors provide a brief overview of variants of hypertrophic cardiomyopathy and phenocopies of this disease, when structural changes in the heart are not the result of classic sarcomere gene mutation. In patients with some phenocopies concentric left ventricular hypertrophy can transform into its dilatation with reduced contractility. Such variant of hypertrophic cardiomyopathy is presented in the first clinical observation. The second case shows that hypertrophic cardiomyopathy can be one of the symptoms of the disease with other reasons for poor outcome.

About the Authors

V. Yu. Zimina
North-Western State Medical University named after I.I. Mechnikov
Russian Federation


G. V. Mislitskaya
North-Western State Medical University named after I.I. Mechnikov
Russian Federation


S. A. Sayganov
North-Western State Medical University named after I.I. Mechnikov
Russian Federation


S. D. Dzakhova
North-Western State Medical University named after I.I. Mechnikov
Russian Federation


References

1. Maron B.J., McKenna W.J., Danielson G.K. et al. Hypertrophic Cardiomyopathy (Clinical Expert Consensus Document). Eur Heart J 2003; 24: 1965-91.

2. Maron B.J. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002; 287: 1308-20.

3. Spirito P., Bellone P., Harris K.M., et al. Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy. N Engl J Med 2000; 342: 1778-85.

4. Maron B.J., Roberts W.C., Epstein S.E. Sudden death in hypertrophic cardiomyopathy. A profile of 78 patients. Circulation 1982; 65: 1388-94.

5. Moiseeva OI, Moroshkin VS, Irtyuga OB et al. Predictors of poor prognosis in patients with hypertrophic cardiomyopathy: a prospective follow-up. Collection of scientific papers "Arterial Hypertension". St. Petersburg: FTSSKE n.a. V.A.Almazov; 2012: 81-5. Russian (Моисеева О.И., Морошкин В.С., Иртюга О.Б. и др. Предикторы неблагоприятного прогноза у больных с гипертрофической кардиомиопатией: результаты проспективного наблюдения. Сборник научных трудов «Артериальная гипертензия». СПб: Изд. ФЦСКЭ им. В.А.Алмазова; 2012: 81-5).

6. Camm J.A., Lüscher T.F., Serruys P.W. The ESC Textbook of Cardiovascular Medicine. 2nd ed. Oxford: Oxford University Press; 2009.

7. Thierfelder L., Watkins H., MacRae C. et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy. A disease of the sarcomere. Cell 1994; 77: 701-12.

8. Sukhareva GE. Diagnosis of different variants of cardiomyopathies in children: a new look at an old problem. Tauride Medical Biological Bulletin 2012; 15 (4): 45-62. Ukraine (Сухарева Г.Э. Диагностика различных вариантов кардиомиопатий у детей: новый взгляд на старую проблему. Таврический Медико-Биологический Вестник 2012; 15(4): 45-62).

9. Watkins H., McKenna W.J., Thierfelder L et al. Mutations in the genes for cardiac troponin T and alphatropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995; 332: 1058-64.

10. Seidman C.E., Seidman J.G. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res 2011; 108: 743-50.

11. Arad M., Penas-Lado M., Monserrat L. et al. Gene mutations in apical hypertrophic cardiomyopathy. Circulation 2005; 112: 2805-11.

12. Maron B.J. A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China. Eur Heart J 2012; 33(5): 570-2.

13. Arad M., Benson D.W., Perez-Atayde A.R., et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 2002; 109: 357-362.

14. Arad M., Maron B.J., Gorham J.M. et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005; 352: 362-72.


For citation:


Zimina V.Y., Mislitskaya G.V., Sayganov S.A., Dzakhova S.D. RARE CASES OF HYPERTROPHIC CARDIOMYOPATHY: VARIANTS AND CLINICAL OBSERVATIONS. Rational Pharmacotherapy in Cardiology. 2014;10(1):49-54. (In Russ.) https://doi.org/10.20996/1819-6446-2014-10-1-49-54

Views: 356


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


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