Publications by authors named "Gerard Blaysat"
Aorto-left ventricular tunnel (ALVT) is a rare congenital heart defect. Surgery has to be performed early to avoid life-threatening complications. Prenatal diagnosis of this defect is challenging.
View Article and Find Full Text PDFBackground: Isolated cardiac conduction block is a relatively common condition in young and elderly populations. Genetic predisposing factors have long been suspected because of numerous familial case reports. Deciphering genetic predisposing factors of conduction blocks may give a hint at stratifying conduction block carriers in a more efficient way.
View Article and Find Full Text PDFArticle Synopsis
- Holt-Oram syndrome is a genetic disorder characterized by radial limb defects (like triphalangeal thumbs) and septal heart defects, caused by mutations in the TBX5 gene on chromosome 12.
- The syndrome is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene from a parent can cause the condition.
- A recent case identified a deletion on chromosome 14 in a boy with severe limb and heart issues, suggesting a potential new genetic location associated with Holt-Oram syndrome.