心尖肥厚型心肌病(ApHCM),也称为Yamaguchi综合征代表了肥厚型心肌病(HCM)的一种罕见形态变异,其中心肌肥厚主要累及左心室(LV)的心尖。从历史上看,心电图上的“巨大”负心前区T波和心室造影上的LV腔的特殊“黑桃状”构型就是例证,最近,关于使用图像增强剂的超声心动图。该疾病实体于1976年首次描述。现有文献表明,它在东亚人口中很普遍,但在非亚洲人中很少见。这里,我们报道一例66岁的西班牙裔男性,有多个心脏病史,包括持续性心房颤动,非ST段抬高型心肌梗死(NSTEMI),和心室颤动心脏骤停,有多个不确定的评估,后来被发现患有ApHCM。该病例突出了该疾病在西班牙裔人群中的罕见发病率,并强调了具有挑战性的诊断,需要对有心脏症状的患者高度怀疑。因为ApHCM可以伪装成缺血性冠心病。我们的病例还描述了ApHCM的异常临床过程,表现出极端的临床特征,包括室性心律失常和心脏骤停,与这种疾病通常的良性自然史不同。
Apical hypertrophic cardiomyopathy (ApHCM), also known as Yamaguchi syndrome represents an uncommon morphologic variant of hypertrophic cardiomyopathy (HCM) in which the myocardial hypertrophy predominantly involves the apex of the left ventricle (LV). It is exemplified by \"giant\" negative precordial T-waves on electrocardiography and a peculiar \"spade-like\" configuration of LV cavity on ventriculography historically, and more recently, on echocardiography with use of image enhancing agents. The disease entity was first described in 1976. Available literature reveals that it is prevalent largely among the East-Asian population but is rare among non-Asians. Here, we report a case of a 66-year-old Hispanic male with multiple cardiac histories including persistent atrial fibrillation, non-ST-elevation myocardial infarction (NSTEMI), and ventricular fibrillation cardiac arrest with multiple inconclusive evaluations, who later in life was found to have ApHCM. This case highlights the rare incidence of the disease among the Hispanic population and underlines the challenging diagnosis that requires a high index of suspicion in patients with cardiac symptoms, as ApHCM can masquerade as ischemic coronary heart disease. Our case also describes an unusual clinical course for ApHCM presenting with extreme clinical features, including ventricular arrhythmias and cardiac arrest, unlike the usual benign natural history of this disease.