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Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report

机译:严重心肌病作为晚发性庞贝病成人的孤立表现特征:一例报告

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摘要

Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII).We present a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary hyperparathyroidism. She had enjoyed excellent health until her first pregnancy at age 33. One week postpartum, she developed dyspnea and an echocardiogram revealed left ventricular ejection fraction (LVEF) of 35%. A cardiac MRI was consistent with nonischemic cardiomyopathy with an infiltrative process. Endomyocardial biopsy showed striking sarcoplasmic vacuolization, excess glycogen by PAS staining, and frequent membrane-bound glycogen by electron microscopy, consistent with lysosomal GSD. Acid alpha-glucosidase (GAA) activity in skin fibroblasts was in the affected range for Pompe disease. Sequencing of the GAA gene revealed a paternally inherited pathogenic c.525delT (p.Glu176Argfs*45) and a de novo c.309C>G (p.Cys103Trp) with unknown pathogenicity. Testing of the familial mutations in her daughter indicated that the variants in the proband were in trans. 26-gene cardiomyopathy sequencing panel had normal results thereby excluding GSD III, Danon disease, Fabry disease, and PRKAG2-associated cardiomyopathy. Therefore, results strongly suggest a diagnosis of Pompe disease.Pompe disease has a broad disease spectrum, including infantile-onset (IOPD) and late-onset (LOPD) forms. LOPD typically presents with proximal muscle weakness and respiratory insufficiency in childhood or late adulthood. Our case may represent a very unusual presentation of adult LOPD with isolated cardiomyopathy without skeletal muscle involvement or respiratory failure.
机译:许多先天性的新陈代谢错误可导致心肌病。与糖原储存相关的心肌病包括PRKAG2相关的糖原储存疾病(GSD),达农病,婴儿发作性庞贝病(GSD II),GSD III,GSD IV和磷酸果糖激酶缺乏症(Tarui病或GSD VII),我们提出35怀孕并发原发性甲状旁腺功能亢进症后出现心肌病的三岁女性。她一直健康状况良好,直到33岁才第一次怀孕。产后一个星期,她出现呼吸困难,超声心动图显示左心室射血分数(LVEF)为35%。心脏MRI与非缺血性心肌病的浸润过程一致。心肌内膜活检显示出明显的肌浆液空泡,PAS染色显示糖原过量,电子显微镜检查显示频繁的膜结合糖原,与溶酶体GSD一致。皮肤成纤维细胞中的酸性α-葡萄糖苷酶(GAA)活性在庞贝病的影响范围内。 GAA基因的测序揭示了一个父系遗传的致病性c.525delT(p.Glu176Argfs * 45)和一个新生c.309C> G(p.Cys103Trp),其致病性未知。对她女儿中家族变异的测试表明,先证者中的变异是反式的。 26基因心肌病测序小组的结果正常,因此排除了GSD III,达农病,法布里病和PRKAG2相关的心肌病。因此,结果强烈建议诊断庞贝病。庞贝病具有广泛的疾病谱,包括婴儿发作(IOPD)和晚期发作(LOPD)形式。 LOPD通常在儿童期或成年后期表现为近端肌肉无力和呼吸功能不全。我们的病例可能代表了成人LOPD的异常表现,患有孤立的心肌病,没有骨骼肌受累或呼吸衰竭。

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