1 results match your criteria: "Developmental Genetics Unit King Faisal Specialist Hospital and Research Center[Affiliation]"
Article Synopsis
- RAMSVPS (Retinal Arterial Macroaneurysms with Supravalvular Pulmonic Stenosis) is a rare genetic condition affecting multiple systems, characterized by retinal macroaneurysms and heart issues.
- A case series of 30 patients highlights key findings, including a high frequency of recurrent bleeding from macroaneurysms and significant heart defects, with the majority needing surgical interventions.
- The study emphasizes the serious health risks associated with RAMSVPS, including potential for early death and liver complications, and suggests recommendations for early detection and management of these health issues.