Human geneticist Prof. Marc-Phillip Hitz, MD, and his team identified failure of a gene as the cause of non-syndromic heart valve defects., DZHK © DZHK

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Paper of the Month

Researchers at the competence network discovered genetic cause of heart valve defects

A missing gene causes heart valve defects. The publication of this discovery in the renowned nature genetics was recognized in February by the German Center for Cardiovascular Diseases (DZHK) as "Paper of the Month".

"Loss of ADAMTS19 causes progressive non-syndromic heart valve disease". This is the title of the research result published in January in Nature Genetics by the team led by Marc-Phillip Hitz, head of the Cardiogenetics Group at the Clinic for Congenital Heart Defects and Pediatric Cardiology at Kiel Christian Albrechts University (CAU), and Gregor Andelfinger from the Centre hospitalier Universitaire Sainte-Justine Sainte in Montreal, Canada.

The researchers had discovered the failure of the ADAMTS19 gene in the genome of children suffering from a non-syndromic heart valve defect. The evidence was provided by the study in the mouse model. In the mice, the missing gene also caused a pathological change in the structures of the somatic cells of the heart valves. The discovery now enables targeted research into new treatment options. The researchers hope to be able to stop the progressive destruction of the heart valves with age in the future. We reported.

The board of the German Center for Cardiovascular Research (DZHK) selected the publication as Paper of the Month in February.

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