Citation, DOI & case data
Progressive heart failure. Cardiac US diagnosed hypertrophic cardiomyopathy. The patient had no mental impairment or muscle weakness.
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LV EDV/BSA 191ml/m2
LV EF 14%
LV myocardial hypertrophy, non-compact LV myocardium, marked dilatation of LV and RV, marked decrease in LV EF and RV, dilatation of LA. MR signs of pronounced structural changes in the myocardium on LGE.
The case is presented together with my colleagues: Anikin A, Yarmola I and Basargina E.
Danon disease is a genetic X-linked dominant disorder. The disease is linked to genetic defects in the lysosome-associated membrane protein 2 (LAMP2) gene, encoding the LAMP2 protein.
Due to the progression of heart failure, a heart transplant was suggested. However, the patient's parents delayed clearance, and the patient died from heart failure.
After death, genetic analysis and biopsy were obtained. Both studies confirmed Danon disease. The patient had a mutation of the gene LAMP2 (OMIM 309060) c.928G> A in the heterozygous state,
leading to amino acid substitution p.V310I.