左心室肥厚而非肥厚型心肌病的病例分析

目的探讨以左心室肥厚为临床表征而非肥厚型心肌病的诊疗经验。方法分析临床上遇到的4例初步诊断为肥厚型心肌病最终考虑为其他相对少见心肌病患者的临床表现特点、辅助检查结果和诊断方法。结果 4例均为由超声心动图检查出的不可解释的心肌肥厚患者。1例17岁男性,心肌极度肥厚合并预激的心电图图形、伴有近端肌肉萎缩和智力发育迟缓,肌酶升高,骨骼肌病理为边缘存在肌膜蛋白的自噬空泡性肌病,诊断为Danon病。1例老年女性,表现为梗阻性肥厚型心肌病,其姐姐明确诊断为Fabry病,诊断为晚发的轻型Fabry病。1例青年男性,表现为心肌肥厚和A型预激,但无其他异常,有明确的家族史,考虑为编码AMP激活蛋白激酶γ2亚单位(PRKAG2)心脏综合征可能。1例44岁男性,心肌肥厚程度与心电图电压不匹配,肾穿刺活组织病理检查发现淀粉样变性,诊断为原发性淀粉样变浸润心肌。结论除原发性遗传性的肥厚型心肌病外,尚有少见的代谢性遗传性肥厚型心肌病和系统疾病浸润心肌导致的心肌肥厚,值得引起重视。

Non-hypertrophic cardiomyopathy presenting as left ventricular hypertrophy in 4 cases

Objective To summarize the diagnosis experience for non-hypertrophic myocardiopathy presenting as left ventricular hypertrophy.Methods The clinical characteristics,auxiliary examinations and diagnostic methods of 4 patients with rare diseases presenting as hypertrophic myocardiopathy were retrospectively investigated.Results All patients had unexplainable myocardial hypertrophy.A 17-years-old male patient with clinical features of extreme myocardial hypertrophy,ventricular pre-excitation,proximal muscle weakness,slow intelligence development,high creatase level and intracytoplasmic autophagic vacuoles in muscle cells was diagnosed as having Danon disease.An old female patient was diagnosed as delayed mild Fabry disease presenting as obstructive hypertrophic cardiomyopathy;her elder sister had been definitely diagnosed as Fabry disease.A young male patient with clinical characteristics of myocardial hypertrophy and ventricular pre-excitation(type A) and family history was considered as PRKAG2 syndrome.A 44-years-old male patient without high left ventricular voltage was diagnosed as having primary cardiac amyloidosis through renal needle biopsy.Conclusion Metabolic hypertrophic genetic cardiomyopathy and some infiltrative cardiomyopathy presenting as hypertrophic cardiomyopathy should be considered in clinical practice.