IJCS | Volume 31, Nº3, May/ June 2018

DOI: 10.5935/2359-4802.20180016 Introduction Hypertrophic cardiomyopathy (HCM) is an intrinsic myocardial disorder characterized by cardiac hypertrophy (wall thickness ≥ 15 mm), that is not explained by conditions of pressure overload (eg, hypertension, severe aortic stenosis). 1 HCM is the most common genetic primary cardiomyopathy, with a prevalence estimated to be about one in 500 adults in the general population. 2 More than 450 mutations have been identified in the 20 genes that cause different phenotypes. In most cases, HCM is associated with sarcomere protein gene mutations, and exhibits multiple phenotypic expressions. We present a case that combines all phenotypes. 3 Case Report A 58-year-old hypertensive woman was admitted to the coronary care unit because of acute heart failure syndrome. The patient denied chest discomfort, illicit drug use or previous disease. The patient noted progressive dyspnea, abdominal swelling, edema of both legs and weight gain. Bilateral edema, ascites, jugular venous distention and (a 3-sound) gallop rhythm were evident on physical examination. The electrocardiogram (ECG) showed sinus rhythm, low QRS amplitude and a pseudoinfarction pattern (Figure 1). The echocardiogram depicted global severe hipokinesis with preservation of lateral wall motion, and increased wall thickness with left chamber enlargement. Moderate pericardial effusion was also present. A continuous infusion of loop diuretics was administered. Thyroid hormones, iron tests and free light chain proteins were negative. Coronary angiography showed normal coronary arteries. Cardiac magnetic resonance revealed maximal wall thickness of 15 mm, left ventricular (LV) mass 262 g and LV mass index 178 g/m², LV diastolic volume 194 mL, LV systolic volume 167 mL and ejection fraction 14%. A marked, diffuse transmural late gadolinium enhancement was also detected (Figure 2. A-F) (Video 1). With the picture of severe congestive heart failure in addition to an inverse relationship of ECG amplitude with wall thickness, an infiltrative cardiomyopathy was suspected. Right heart catheterization showed high filling pressures and low cardiac output, and endomyoca rdi a l b i opsy showed di f fuse fibrosis without specific changes. As the patient became refractory to optimal medical treatment, she underwent orthotopic heart transplantation. She recovered uneventfully and biopsy of the explanted heart was positive for HCM, showing severe interstitial fibrosis and extensive foci of myocyte disarray affecting the LV (Figure 2.G). Discussion HCM is a heterogeneous disease in terms of both genetics and phenotypes. For instance, it has been reported that distribution of hypertrophy in hypertrophic cardiomyopathy by troponin T gene differs no only among families but also within families. 4 The information available about the genotype - phenotype correlation in HCM is sparse. Sometimes HCM exhibits a “restrictive phenotype” characterized by restrictive filling and minimal or no left ventricular hypertrophy, which resembles idiopathic restrictive cardiomyopathy. 5 312 International Journal of Cardiovascular Sciences. 2018;31(3)312-315 CASE REPORT Mailing Address: Fernando Garagoli Peron, 4190. Postal Code: C1183AEG, Almagro, Ciudad Autónoma de Buenos Aires, Buenos Aires – Argentina. E-mail: fernando.garagoli@hospitalitaliano.org.ar Hypertrophic Cardiomyopathy, All Phenotypes in one Aníbal M. Arias, Diego Perez de Arenaza, Rodolfo Pizarro, Ricardo G. Marenchino, Fernando Garagoli, Hernán Garcia Rivello, César Belziti Hospital Italiano de Buenos Aires, Buenos Aires - Argentina Manuscript received March 01, 2017; revised manuscript June 06, 2017; accepted July 07, 2017 Cardiomyopathy, Hypertrophic; Heart Failure; Cardiomegaly; Heart Transplantation. Keywords