Tiny titin mutation linked to developmental heart defects and adult atrial fibrillation

Atrial Fibrillation News

Tiny titin mutation linked to developmental heart defects and adult atrial fibrillation
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Millions of adults have atrial fibrillation -; an irregular beating of the upper chambers of the heart that yields increased risk of heart failure, stroke and death.

University of Alabama at BirminghamJul 25 2024 Many genetic mutations in the developing fetus can lead to adult atrial fibrillation , including mutations that shorten the massive protein titin in cardiac muscle cells.

Strikingly, researchers found that pharmacologically blocking the altered /ks current improved atrial contractility in the nine amino acid-deletion zebrafish embryos, and it similarly improved contractility and prevented atrial fibrillation in the nine amino acid-deletion human cells. Saxena and Dawood Darbar, M.D., of the University of Illinois Chicago, are corresponding authors of the study, published in the journal iScience.

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