Los mecanismos patológicos por los que las mutaciones que se asocian a la miocardiopatía hipertrófica causan las alteraciones encontradas en esta enfermedad pueden ser:

1. Alteraciones en la función contractil (reducción o aumento de la actividad motora).

2. Alteraciones en el ciclo del calcio o a su sensibilidad.

3. Aumento de la fibrosis miocárdica.

4. Alteraciones en el sensado del estrés biomecánico.

5. Alteraciones en la homeostasis energética.

6. Disfunción microvascular.

Dres. Norbert Frey, Mark Luedde and Hugo A. Katus.

Nat Rev Cardiol 2012;9:91-100.

Además de la miocardiopatía hipertrófica, existen una serie de enfermedades o miocardiopatías que se asocian con hipertrofia ventricular izquierda. Por ello, me gustaría recomendar los siguientes artículos:

1. Frey N, Luedde M and Katus HA. Mechanisms of disease: hypertrophic cardiomyopathy. Nat Rev Cardiol 2012;9:91-100.
2. Force T, Bonow RO, Houser SR, et al. Research priorities in hypertrophic cardiomyopathy. Report of a working group of the National Heart, Lung, and Blood Institute. Circulation 2010;122:1130-1133.
3. Cikes M, Sutherland GR, Anderson LJ, Bijnens BH. The role of echocardiographic deformation imaging in hypertrophic myopathies. Nat Rev Cardiol 2010;7:384-396.
4. Morita H, Seidman J, Seidman CE. Genetic causes of human heart failure. J Clin Invest 2005;115:518-526.
5. Van der Ploeg AT, Reuser AJJ. Pompe’s disease. Lancet 2008;372:1342-1353.
6. Arad M, Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005;352:362–372.
7. Maron BJ, Roberts WC, Arad M, et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyophaty. JAMA 2009;301:1253-1259.
8. Carbone I, Francone M, Chimenti C, et al. Right ventricular late enhancement as a magnetic resonance marker of glycogen storage disease. Circulation 2010;122:189-190.
9. Zarate YA, Hopkin RJ. Fabry’s disease. Lancet 2008;372:1427-1435.
10. Moon JCC, Sachdev B, Elkington AG, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease: evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003;24: 2151–2155.
11. De Cobelli F, Esposito A, Belloni E, et al. Delayed-enhanced cardiac MRI for differentiation of Fabry’s disease from symmetric hypertrophic cardiomyopathy. AJR 2009;192:W97-W102.
12. Fernández-Vizarra E, Bayona-Bafaluy MP, Enríquez JA. Cardiopathies of mitochondrial origin. Nat Rev Cardiol (CNIC Edition) 2010;7: 47-53.
13. Conceição Silva M, Alves Meira ZM, Gurgel Giannetti J, et al. Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy. J Am Coll Cardiol 2007;49;1874-1879.
14. Yilmaz A, Gdynia H-J, Ludolph AC, et al. Cardiomyopathy in a Duchenne muscular dystrophy carrier and her diseased son. Similar pattern revealed by cardiovascular MRI. Circulation 2010;121:e237-e239.
15. Aoki Y, Niihori T, Narumi Y, et al. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat 2008;29:992-1006.
16. Lehmann LH, Schaeufele T, Buss SJ, et al. A patient with Leopard syndrome and PTPN11 Mutation. Circulation 2009;119:1318-1329.
17. Falk RH. Diagnosis and management of the cardiac amyloidoses. Circulation 2005;112: 2047-2060.
18. Syed IS, Glockner JF, Feng D, et al. Role of Cardiac magnetic resonance imaging in the detection of cardiac amyloidosis. J Am Coll Cardiol Img 2010;3:155-164.
19. Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol 2010;7:398-408.

Dres. Maja Cikes, George R. Sutherland, Lisa J. Anderson y Bart H. Bijnens

Nat Rev Cardiol. 2010;7:384-396