PMC7831386_01
(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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F1
His mother's uncle and grandmother both died young of unknown causes in their thirties (Figure 1A). There was a guanine deletion at position 973 (c.973delG) in exon 8 of the LAMP2 gene (Figure 1B), and so the patient was diagnosed with Danon disease. Other tested family members did not carry the variants without any symptoms (Figure 1A).
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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F2
The echocardiogram showed 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 (Figure 2).
(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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F3
A chest x-ray demonstrated an enlarged cardiac silhouette (Figure 3A). No variant was detected in the phenotypically normal father (Figure 3B). The ECG result progressed to biventricular high voltage (Figure 3C). Besides, echocardiography revealed that interventricular septum, the posterior wall of the left ventricle and the anterior wall of the left ventricle were predominantly thickened with impaired diastolic function (E/A: 0.8) and normal systolic function (LVEF: 87.6%) (Figure 3D).
A hemizygous c.467T > G (p.Leu156X) mutation in exon 4 of LAMP2 was identified in the patient.
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F4
A hemizygous c.467T > G (p.Leu156X) in exon 4 of LAMP2 was identified in the patient causing a premature stop codon, thereby confirming a diagnosis of Danon disease (Figure 4).