These early research findings are promising but still preliminary. In studies with genetically altered mice, researchers observed connective tissue defects and mitral valve prolapse in 83% of affected animals, supporting a biological mechanism.
However, not all hEDS patients carry kallikrein variants, suggesting that hEDS is likely caused by multiple genes. If you have had whole exome sequencing, you could ask your genetic counselor to check your results for kallikrein gene variants, but a VUS in this area does not change your clinical diagnosis or treatment plan.