Ogden syndrome — ultra-rare disease variant with a sudden death risk (first description in Russia): a case report

Introduction. The article presents a case of a child with long QT syndrome, skeletal and facial abnormalities, and mental deficiency. This symptom complex was a manifestation of an Ogden syndrome, previously undescribed in Russia X-linked disease associated with a NAA10 gene mutation.

Brief description. Molecular genetic testing confirmed a mutation (p.Tyr43Ser) in this gene, which was also found in the child’s sister and mother. During anesthesia, the boy suffered cardiac arrest due to severe bradycardia and asystole, due to which a cardioverter-defibrillator was implanted.

Discussion. Ogden syndrome is a disease associated with NAA10 gene mutations, which may remain unrecognized. Severe psychoneurological symptoms can mask the cardiac manifestations of the disease for a long time, including long QT syndrome and arrhythmias, which can manifest as dangerous life-threatening arrhythmias and sudden death.

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