ДИФФЕРЕНЦИАЛЬНАЯ ДИАГНОСТИКА ГИПЕРТРОФИЧЕСКОЙ КАРДИОМИОПАТИИ

Гипертрофическая кардиомиопатия – наиболее частая форма кардиомиопатий, встречающаяся в детском возрасте, возникающая при мутации генов, кодирующих белки саркомерного и несаркомерного комплексов. В основу диагностики заболевания положены данные эхокардиографии, выявляющие структурные изменения в сердечной мышце по типу гипертрофии, при этом генез этих изменений остается невыясненным. Причины гипертрофической кардиомиопатии в детском возрасте разнообразны. Большое значение имеет ранняя диагностика метаболических форм гипертрофической кардиомиопатии, так, в ряде случаев возможен регресс гипертрофии на фоне ферментозамещающей или иной медикаментозной терапии. В статье представлены клинические (кардиальные и экстракардиальные симптомы) и лабораторные маркеры гипертрофической кардиомиопатии при мутациях генов белков саркомерного комплекса, врожденных нарушениях обмена веществ (гликогенозы, лизосомальная патология, нарушения обмена жирных кислот, митохондриальные заболевания), генетических синдромах (Нунан, LEOPARD, Костелло, сердечно-лице-кожный), нервно-мышечных заболеваниях. Приводятся критерии дифференциальной диагностики генетических форм гипертрофической кардиомиопатии и гипертрофии миокарда у спортсменов. 

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