Катехоламинэргическая полиморфная желудочковая тахикардия, вызванная гомозиготным патогенным вариантом в гене кальсеквестрина 2 (клинический случай)

Представлено клиническое наблюдение 19‑летнего пациента с катехоламинергической полиморфной желудочковой тахикардией, обусловленной патогенным гомозиготным вариантом р.Ile193Asnfs*17 (rs397516643) в гене CASQ2, ранними проявлениями которой были рецидивирующие синкопальные состояния при эмоциональном напряжении, наджелудочковые и полиморфные желудочковые нарушения ритма в отсутствие структурных изменений в сердце. Показана эволюция нарушений ритма за период наблюдения. Обсуждены вопросы стратификации риска внезапной сердечной смерти и стратегия ее профилактики при данной патологии.

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