Yamaguchi Syndrome (Ace of Spades) in an Elderly Male. Case Report and Literature Review

Apical hypertrophic cardiomyopathy (AHCM) is a rare phenotypic variant of hypertrophic cardiomyopathy (HCM), most commonly seen in Asian men (Yamaguchi syndrome). It is characterized by hypertrophy, predominantly affecting the cardiac apex, with an "ace of spades"-shaped left ventricular (LV) cavity best seen on the 4-chamber view of a transthoracic echocardiogram (TTE). However, TTE can be falsely negative in 30% of AHCM cases, largely due to difficulties in delineating endocardial border. The diagnostic criteria for apical cardiac hypertrophy are: 1) asymmetric LV hypertrophy - predominantly at the apex of the ventricle; 2) LV wall thickness of 15 mm or more during diastole; and 3) apical to posterior wall thickness ratio of 1.5 or more determined by 2-dimensional echocardiography or cardiac magnetic resonance imaging. Here, we are presenting a case of elderly male who visited our cardiac OPD for a check-up due to atypical chest pain, cough and mild fever for 5 days. His resting ECG showed left ventricular hypertrophy with deep T wave inversion in precordial leads V2-V6, consistent with AHCM. An exhaustive transthoracic echocardiography (TTE) with contrast study (CS) and speckle tracking imaging by 4Dimensional XStrain speckle tracking echocardiography (STE) was performed to provide a clinching diagnosis. Keywords: Hypertrophic cardiomyopathy, Apical hypertrophic cardiomyopathy, Ace of spades, Strain echocardiography, Contrast imaging in apical hypertrophic cardiomyopathy, Yamaguchi syndrome, 4Dimensional XStrain echocardiography.