Journal of Rare Cardiovascular Diseases

We present the case of a young patient with significant left ventricular hypertrophy as a common representation of the hypertrophic cardiomyopathy (HCM) phenotype. The clinical presentation and diagnostic route of the disease (despite negative genotype), which can be found in everyday cardiology practice, are shown. Despite the presence of guidelines on this topic, each clinical case is demanding, especially during qualification for invasive procedures. Limited data about the periprocedural risk of catheter ablation and success rate in HCM makes physician decisions for this type of patient challenging. The importance of informed consent and how the patient’s decisions affet further progress are also shown. JRCD 2018; 4 (1): 18-21.

rare disease; hypertrophic cardiomyopathy; atrial fibrillation; subcutaneous implantable cardioverter defibrillator; transcatheter ablation

Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. Eur Heart J 2014; 35, 2733–2779

Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: web addenda. Eur Heart J 2014; doi:10.1093/eurheartj/ehu284a, 1–9

Cirino AL, Ho C. Hypertrophic Cardiomyopathy Overview. GeneReviews, Internet January 16, 2014.

Gębka A, Rajtar-Salwa R, Petkow-Dimitrow P, et al. Painful and painless myocardial ischemia detected by elevated level of high-sensitive troponin in patients with hypertrophic cardiomyopathy. Advances in Interventional Cardiology; 2018; 14, 2 (52): 195–198

Rajtar-Salwa R, Hładij R, Petkow-Dimitrow P. Elevated Level of Troponin but Not N-Terminal Probrain Natriuretic Peptide Is Associated with Increased Risk of Sudden Cardiac Death in Hypertrophic Cardiomyopathy Calculated According to the ESC Guidelines 2014. Dis. Markers 2017; 2017: 9 417 908

Flamm MD, Harrison DC, Hancock EW. Muscular subaortic stenosis. Prevention of outflow obstruction with propranolol. Circulation 1968; 38: 846–858.

Tendera M, Wycisk A, Schneeweiss A, et al. Effect of sotalol on arrhythmias and exercise tolerance in patients with hypertrophic cardiomyopathy. Cardiology 1993; 82: 335–342.

Green EM, Wakimoto H, Anderson RL, et al. A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science 2016; 351 (6273): 617–621

Kleemann T, Becker T, Doenges K, et al. Annual Rate of Transvenous Defibrillation Lead Defects in Implantable Cardioverter-Defibrillators Over a Period of >10 Years. Circulation. 2007; 115: 2474–2480

Jacheć W, Tomasik A, Polewczyk M, et al. Impact of ICD lead on the system durability and long-term outcomes after ICD lead extraction, Europace 2016; 18 (suppl_1): 16.

Wilkoff BL, Love CJ, Byrd CL et al. Transvenous Lead Extraction: Heart Rhythm Society Expert Consensus on Facilities, Training, Indications, and Patient Management, AHA Guidelines 2009. Heart Rhythm Journal 2009; 6 (7): 1085–1104.

Topilski I, Sherez J, Keren G, et al. Long-term effects of dual-chamber pacing with periodic echocardiographic evaluation of optimal atrioventricular delay in patients with hypertrophic cardiomyopathy >50 years of age. Am J Cardiol 2006; 97: 1769–1775.

Lambiase PD, Barr C, Knops R, on behalf of the EFFORTLESS Investigators. Worldwide experience with a totally subcutaneous implantable defibrillator: early results from the EFFORTLESS S-ICD Registry, European Heart Journal, published March 26, 2014

Kirchhof P, Benussi S, Kotecha D, et al. 2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS. Eur Heart J 2016: 37 (38): 2893–2962.

McCready JW, Smedley T, Lambiase PD, et al. Predictors of recurrence following radiofrequency ablation for persistent atrial fibrillation. Europace 2011; 13: 355–361.

McCready JW, Smedley T, Lambiase PD, et al. Predictors of recurrence following radiofrequency ablation for persistent atrial fibrillation. Europace 2011; 13: 355–361.

Derejko P, Polańska M, Chojnowska L, et al. Catheter ablation of atrial fibrillation in patients with hypertrophic cardiomyopathy: atrial fibrillation type determines the success rate. Kardiol Pol 2013; 71(1): 17–24.

Maagh P, Plehn G, Christoph A, et al. Impact of Cryoballoon Ablation in Hypertrophic Cardiomyopathy related Heart Failure due to Paroxysmal Atrial Fibrillation. A Comparative Case Series. International Journal of Medical Sciences (2016); 13(9): 664–672. Published online 2016 Aug 1. doi: 10.7150/ijms.16 181

Bassiouny M, Lindsay BD, Lever H, et al. Outcomes of nonpharmacologic treatment of atrial fibrillation in patients with hypertrophic cardiomyopathy. Heart Rhythm Journal 2015; 12(7): 1438–47. doi: 10.1016/j.hrthm.2015.03.042.