Abstract
Previously, it was believed that mutations in filamin C are able to cause only skeletal myopathies, cardiac tissues have not been studied. However mutations in FLNC have been recently found that lead to both joint damage to the skeletal and cardiac musculature and to isolated cardiac tissue damage. Moreover, had known that mutations in FLNC are associated with all known types of cardiomyopathies (HCM, DCM, RCM, arrhythmogenic) аt present. The article presents our own clinical observations of an adult and children’s cases of isolated phylaminic RCM based on our institution. The study of this problem will allow us to include the known mutations in the genetic screening panels, which will lead to early diagnosis of cardiomyopathies associated with mutations in FLNC and the ability to prevent rapid disease progression and more later cardiac transplantation in the future.
Highlights
Или сниженной степенью комплаентности стенок миокарда, что приводит к его диастолической дисфункции, нарушению внутрисердечной гемодинамики и развитию сердечной недостаточности (СН) [1]
Previously, it was believed that mutations in filamin C are able to cause only skeletal myopathies, cardiac tissues have not been studied
Mutations in FLNC have been recently found that lead to both joint damage to the skeletal and cardiac musculature and to isolated cardiac tissue damage
Summary
Или сниженной степенью комплаентности стенок миокарда, что приводит к его диастолической дисфункции, нарушению внутрисердечной гемодинамики и развитию СН [1]. В настоящее время стало известно, что мутации в FLNC ассоциированы со всеми известными видами кардиомиопатий (ГКМП, ДКМП, РКМП, аритмогенной). Что сплайсинговые мутации в гене FLNC ассоциируются с высоким риском возникновения дилатационной и аритмогенной кардиомиопатии. При исследовании когорты из 2877 пациентов с различными вариантами кардиомиопатий, были выявлены 23 мутации, приводящие к трункации (усечению) филамина у 28 пациентов, при этом у 20 пациентов стоял диагноз ДКМП, у 7 пациентов — АКМП и у одного — РКМП.
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