Genetic cause of heart valve defects revealed

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Heart valve defects are a common cause of death in newborns. Scientists at the University of Bonn and the caesar research center have discovered “Creld1″ is a key gene for the development of heart valves in mice. The researchers were able to show that a similar Creld1 gene found in humans functions via the same signaling pathway as in the mouse. This discovery is an important step forward in the molecular understanding of the pathogenesis of heart valve defects. The findings have been published in the journal “Developmental Cell.”Atrioventricular septal defect (AVSD) is a congenital heart defect in which the heart valves and cardiac septum are malformed. Children with Down’s syndrome are particularly affected. Without surgical interventions, mortality in the first months of life is high. “Even in adults, unidentified valve defects occur in about six percent of patients with heart disease,” says Prof. Dr. Michael Hoch, Executive Director of the Life & Medical Sciences (LIMES) Institute of the University of Bonn.For years, there have been indications that changes in the so-called Creld1 gene (Cysteine-Rich with EGF-Like Domains 1) increase the pathogenic risk of AVSD. …


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