Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
Fadi I MusfeeDongchuan GuoAmélie C PinardEllen M HostetlerElizabeth E BlueDeborah A Nickersonnull nullMichael J BamshadDianna M MilewiczSiddharth K PrakashPublished in: Molecular genetics & genomic medicine (2020)
Rare variants of NOTCH1, ROBO4, SMAD6, or GATA4 do not significantly contribute to BAV in cohorts with HTAD. We conclude that BAV patients who present with HTAD are a genetically distinct subgroup with implications for genetic testing and prognosis.