Journal of Rare Cardiovascular Diseases

Hypertrophic cardiomyopathy (HCM) is the most common inheritable cardiac disorder with an estimated prevalence of 1:500 in the general population. In minority of patients, with the prevalence approximately of 3–5%, HCM progresses into dilated, end-stage or burn-out phase, characterized by LV wall thinning, systolic dysfunction and LV cavity dilatation. We present a case of a 45 year-old man with endstage HCM with postcapillary pulmonary hypertension, who was experimentally treated with sildenafil. It resulted in noticeable clinical and haemodynamical improvement. JRCD 2014; 2 (1): 23–26

cardiomyopathy; sildenafil; end-stage

Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet 2013; 381: 242–255.

Bos JM, Towbin JA, Ackerman MJ. Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol 2009; 54: 201–211.

Hughes SE. The pathology of hypertrophic cardiomyopathy. Histopathology 2004; 44: 412–427.

Goto D, Kinugawa S, Hamaguchi S, et al. Clinical characteristics and outcomes of dilated phase of hypertrophic cardiomyopathy: report from the registry data in Japan. J Cardiol. 2013; 61: 65–70.

Thaman R, Gimeno JR, Murphy RT et al. Prevalence and clinical significance of systolic impairment in hypertrophic cardiomyopathy. Heart 2005; 91: 920–925.

Sorajja P, Ommen SR, Holmes DR Jr, et al. Survival after alcohol septal ablation for obstructive hypertrophic cardiomyopathy. Circulation 2012; 126: 2374–2380.

Hamada T, Kubo T, Kitaoka H et al. Clinical features of the dilated phase of hypertrophic cardiomyopathy in comparison with those of dilated cardiomyopathy. ClinCardiol. 2010; 33: E24–E28.

Harris KM, Spirito P, Maron MS et al. Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy. Circulation 2006; 114: 216–225.

Rogers DP, Marazia S, Chow AW et al. Effect of biventricular pacing on symptoms and cardiac remodelling in patients with end-stage hypertrophic cardiomyopathy. Eur J HeartFail. 2008; 10: 507–513.

Maron BJ, Towbin JA, Thiene G et al. American Heart Association; Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention. Contemporary definitions and classification of the cardiomyopathies. Circulation 2006; 113: 1807–1816.

Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002; 287: 1308–1320.

Costanzo MR, Augustine S, Bourge R et al. Selectionand Treatment of Candidates for Heart Transplantation: A Statement for Health Professionals From the Committeeon Heart Failure and Cardiac Transplantation of theCouncil on Clinical Cardiology, American Heart Association [AHA Medical/Scientific Statement]. Circulation 1995; 92: 3593–3612.

Bourge RC, Kirklin JK et al. Analysis and predictors of pulmonary vascular resistance after cardiac transplantation. J Thorac Cardiovasc Surg 1991; 101: 432–444.

Espinoza C, Manito N, Castells E et al. Reversibility of pulmonary hypertension in patients evaluated for orthotopic heart transplantation; importance in postoperative morbidity and mortality. Transplant. Proc. 1999; 31: 2503–2504.

Nowacka M, Kopec G, Stepniewski J, Podolec P. Nitric oxide vs Sildenafil for pulmonary artery reactivity testing in heart trans plantation candidates. J Rare Cardiovasc Dis 2012; 1: 7–9.