Статья
Дилатационная кардиомиопатия: новый взгляд на проблему
Дилатационная кардиомиопатия (ДКМП) — это сложное, этиологически гетерогенное заболевание миокарда, которое является одной из главных причин сердечной недостаточности и трансплантации сердца. В 2016г экспертами европейской рабочей группы предложено новое определение кардиомиопатии с понятием “клинического континуума ДКМП”, включающего промежуточные варианты с изменением фенотипа у носителей мутаций от субклинической формы до полного проявления признаков заболевания. Классификация ДКМП была дополнена промежуточными фенотипами с включением гипокинетической формы со сниженной сократительной функцией без дилатации желудочков и вариантами с преимущественной дилатацией или аритмогенностью. Патологическая архитектоника ДКМП состоит из множества генетических детерминант, взаимодействующих с многочисленными факторами окружающей среды. Клинические проявления зависят не только от злокачественности и пенетрантности генной мутации, но также от ряда других причин — эпигеномных факторов, возраста, токсических воздействий, агрессивности окружающей среды, беременности и влияния приобретенных заболеваний. В статье обобщены современные эпидемиологические данные и представления о специфических молекулярных изменениях с неблагоприятным прогнозом. Для наглядности приведены клинические наблюдения семейной ДКМП с мутациями в генах RBM20 и LMNA.
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