Case Report: Identification of Mutations in LAMP2 in Two Chinese Infants With Danon Disease

Figures

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  FIGURE 1. (A) Pedigree analysis of the family of patient 1. The arrow points out the proband. Circles correspond to female. Squares correspond to male. The mutation was indicated −/− if negative and ?/? if untested. (B) Genetic testing of patient 1 showed a guanine deletion at position 973 (c.973delG) in exon 8 of the LAMP2 gene.

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  FIGURE 2. The echocardiogram of patient 1: substantial left ventricular hypertrophy with a maximal thickness in the posterior wall of the left ventricle of 10 mm and a ventricular septal thickness of 15 mm, and obstruction in the left ventricular outflow tract.

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  FIGURE 3. (A) The chest x-ray of patient 2 demonstrated an enlarged cardiac silhouette. (B) Pedigree analysis of the family of patient 2. The arrow points out the proband. Circles correspond to female. Squares correspond to male. The mutation was indicated -/- if negative. (C) The ECG of patient 2 showed biventricular high voltage. (D) The echocardiogram of patient 2 revealed severe hypertrophic cardiomyopathy with impaired diastolic function (E/A: 0.8) and normal systolic function (LVEF: 87.6%).

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  FIGURE 4. A hemizygous c.467T > G (p.Leu156X) mutation in exon 4 of LAMP2 was identified in the patient.