Publications by authors named "Anna Paula Arpini Botelho"
Article Synopsis
- Thoracic aortic diseases, often silent yet potentially deadly, arise from genetic and hemodynamic interactions and can lead to serious complications like dissection or rupture.
- A study of 79 Brazilian patients used targeted next-generation sequencing to investigate the genetic factors in these conditions, revealing that most had nonsyndromic aortopathy, with some diagnosed with Marfan syndrome.
- Pathogenic variants were identified in several genes, particularly FBN1, while novel variants linked to Marfan-like features were discovered; this highlights the importance of further research to improve diagnosis and management strategies.
