■糖原贮积病(GSD)Ⅲa型是一种罕见的常染色体隐性遗传疾病,导致肝脏中异常结构糖原的积累,骨骼肌,和心肌。GSD中的心血管磁共振(CMR)组织特征鲜有报道。
■我们报告了一名24岁的男性患者,患有反复发作的心悸和非典型胸痛5年,怀疑是肥厚型心肌病。实验室检测显示肌酸激酶升高,体格检查显示肝脾肿大。心血管磁共振显示不对称的大量左心室肥大,隔膜的最大厚度为34.6mm。在前间隔局灶性晚钆增强(LGE)区域,天然T1和细胞外体积(ECV)都升高。然而,在心肌的LGE阴性区域,天然T1升高,而ECV升高(隔膜,22.7%;自由壁,20.9%)。全外显子组测序揭示了AGL基因的一种新的致病性纯合无义变体(c.4284T>G,p.Tyr1428*),确认患者诊断为GSDⅢa型。
■该病例显示GSD中LGE阴性心肌中CMR的弥漫性天然T1增加,但ECV不增加,这表明T1值随着心肌中糖原的积累而增加,但是ECV空间在这个过程中没有扩大。当存在多器官受累时,应在严重的左心室肥大中进行基因检测。心肌组织表征在T1升高和正常ECV之间存在差异,以考虑糖原贮积障碍。
UNASSIGNED: Glycogen storage disease (GSD) type Ⅲa is a rare autosomal recessive disorder resulting in the accumulation of abnormally structured glycogen in the liver, skeletal muscle, and cardiac muscle. Cardiovascular magnetic resonance (CMR) tissue characteristics in GSD have rarely been reported.
UNASSIGNED: We report a 24-year-old male patient suffering from recurrent palpitation and atypical chest pain for 5 years with suspected hypertrophic cardiomyopathy. Laboratory tests revealed an elevated creatine kinase, and physical exam revealed hepatosplenomegaly. Cardiovascular magnetic resonance demonstrated asymmetrical massive left ventricular hypertrophy with a maximal thickness of 34.6 mm in the septum. In the regions with focal late gadolinium enhancement (LGE) in the anterior septum, both native T1 and extracellular volume (ECV) are elevated. However, in the LGE-negative regions of the myocardium, native T1 was elevated without elevation in ECV (septum, 22.7%; free wall, 20.9%). Whole exome sequencing revealed a novel pathogenic homozygous nonsense variant of the AGL gene (c.4284 T > G, p. Tyr1428*), confirming the diagnosis of the patients as GSD type Ⅲa.
UNASSIGNED: This
case showed increased diffuse native T1 but not ECV on CMR in LGE-negative myocardium in GSD, which indicates that the T1 value is increased with an accumulation of glycogen in the myocardium, but the ECV space was not expanded in this process. Genetic testing should be obtained in severe LV hypertrophy when multi-organ involvement is present, and myocardial tissue characterization is discrepant between T1 elevation and normal ECV to consider glycogen storage disorder.