IJCS | Volume 31, Nº3, May/ June 2018

313 Figure 1 – The electrocardiogram (ECG) showed sinus rhythm, low QRS amplitude and a pseudoinfarction pattern. A smaller number of patients with HCM (5-10%) will progress to an end-stage form of the disease that is characterized by LV dilation, wall thinning and systolic dysfunction. 6 Despite the absence of systemic disease, the relationship between increased wall thickness, low ECG amplitude and severe diastolic dysfunction favors the diagnosis of a restrictive cardiomyopathy. Gadolinium enhancement was also typical for cardiac amyloidosis. In addition, there was no history of familial cardiac disease. Although endomyocardial biopsy even ruled out the diagnosis of cardiac amyloidosis, it also failed to confirm HCM, probably because the right ventricle was less affected. In this case, we reported increased left ventricular dimensions, depressed systolic function, ventricular hypertrophy and restrictive physiology, which are typical of adilated, restrictive, hypertrophic phenotype. It is known that multiple genetic mutations can be present in the same person, which might explain the combination of three different features in this case. There is no similar case report in the literature. The limitation of this report is that we could not perform genetic testingas it isnot currentlyavailableat our institution. In addition to the HCM diagnosis provided by biopsy it would have been of great value to know the specific gene mutation inorder topuzzleout this “intriguingphenotype”. Author contributions Conception and design of the research: Arias AM, Arenaza DP, Pizarro R, Marenchino RG, Garagoli F, Rivello HG, Belziti C. Acquisition of data: Arias AM, Arenaza DP, Pizarro R, Marenchino RG, Garagoli F, Rivello HG, Belziti C. Analysis and interpretation of the data: Arias AM, Arenaza DP, Pizarro R, Marenchino RG, Garagoli F, Rivello HG, Belziti C. Statistical analysis: Arias AM, Arenaza DP, Pizarro R, Marenchino RG, Garagoli F, RivelloHG, Belziti C.Writingof themanuscript: Arias AM, Arenaza DP, Pizarro R, Marenchino RG, Garagoli F, Rivello HG, Belziti C. Critical revision of the manuscript for intellectual content: AriasAM, ArenazaDP, PizarroR,MarenchinoRG, Garagoli F, RivelloHG, Belziti C. Potential Conflict of Interest No potential conflict of interest relevant to this article was reported. Sources of Funding There were no external funding sources for this study. Study Association This study is not associated with any thesis or dissertation work. Arias et al. Hypertrophic cardiomyopathy International Journal of Cardiovascular Sciences. 2018;31(3)312-315 Case Report