Abstract
In a first family (family#1), we identified 53 members of whom 17 present a syndromic cardiac disorder characterized by electrical disorders (sinus node dysfunction, atrial fibrillation...) and developmental defects (atrial septal defect, valvopathy, left ventricle non-compaction...) following an autosomal dominant model. Among the affected family members, 6 are implanted with a pacemaker and one experienced a sudden death at 43yo. Despite a strong linkage pointing to the 4q25 region, exome sequencing failed to identify causal variant.
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