PMC10441658_01
The electrocardiogram of patient I showed atrial fibrillation and pre-excitation pattern (The absence of variability of the pre-excited QRS complex in the setting of atrial fibrillation is highly suggestive of a fasciculoventricular pathway).
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Asian male presented with palpitations for 7 months in Beijing Anzhen Hospital. An electrocardiogram showed atrial fibrillation (AF) and a pre-excitation pattern (Figure 1).
(A) A 21-year-old male patient's two-chamber PSIR image shows LGE located at the sub-epicardium. (B and C) Same patient's short-axis and four-chamber PSIR image show LGE located at the sub-epicardium of lateral wall, mid-myocardium of septal wall.
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A patchy midmyocardial delayed enhancement was observed in the MRI, reflecting the development of myocardial fibrosis (Figure 2).
(A) HE staining showed there were vacuoles in muscle fibers, and some vacuoles had basophilic granular material deposition. (B) NES staining indicated there were granular dark stains in the muscle fibers. (C) Desmin staining revealed there were desmin positive substances in the muscle fibers. (D) PAS staining showed glycogen and glycoprotein were deposition. The pathological diagnosis was glycogen storage disease or desminopathy.
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The pathological diagnosis was glycogen storage disease or desminopathy (Figure 3).
Patient I: LAMP2:NM_002294:exon8:c.973delC: p.Leu325fs (The red arrow represents the patient's genetic mutation site). The father of Patient I: LAMP2:c.973delC chrx:119575705 (The red circle represents the site without genetic mutations). The mother of Patient I: LAMP2:c.973delC chrx:119575705 (The red circle represents the site without genetic mutations). Patient II: LAMP2:c.35C>A chrX-119602990 p.S12* (The red circle represents the patient's genetic mutation site).
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A hemizygous nonsense mutation (c.35C>A) was identified in the LAMP2 gene of the patient (Figure 4).
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Patient I: LAMP2:NM_002294:exon8:c.973delC: p.Leu325fs (The red arrow represents the patient's genetic mutation site). The father of Patient I: LAMP2:c.973delC chrx:119575705 (The red circle represents the site without genetic mutations). The mother of Patient I: LAMP2:c.973delC chrx:119575705 (The red circle represents the site without genetic mutations). Patient II: LAMP2:c.35C>A chrX-119602990 p.S12* (The red circle represents the patient's genetic mutation site).
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A hemizygous nonsense mutation (c.35C>A) was identified in the LAMP2 gene of the patient (Figure 4).
(A and B) 24-year-old male patient's two-chamber and four-chamber PSIR image shows LGE diffusely distributed at the sub-epicardium.
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In the MRI, most of the walls of the left ventricle and the anteroseptal, anterior, and lateral walls of the right ventricle were observed with delayed enhancement, which reflected myocardial fibrosis (Figure 5).