Cardiac spect in diagnosis of Yamaguchi syndrome

Apical non-obstructive hypertrophic cardiomyopathy also known as Yamaguchi syndrome is a rare inheritable disorder that affects the inner structure of myocardium of the left ventricle giving it a certain ace-of-spades appearance on ventriculograms, echocardiography and cardiac MRI. First described my H. Yamaguchi in 1979 this rare disorder is still a challenge for physicians around the world. Given that this condition might manifest in a number of clinical syndromes or simply coexist with other cardiac pathologies, single-photon emmition tomography seems like a viable option for differential diagnosis of coronary artery disease in this group of patients. Therefore we present a clinical observation of such a patient and a detailed illustrated description of all SPECT findings. Our case report is accompanied by a small review of literature on the matter, which, we hope, shall facilitate the work of future physicians that will have to work with patients with this rare and complex disorder.