Genetic tests reveal Marfan syndrome & guide therapy plan

The cardiologist observed Antonia’s tall stature and arachnodactyly and requested NGS Panel testing for Marfan and related syndromes. A pathogenic variant was detected in the FBN1 gene, confirming the diagnosis of autosomal dominant Marfan Syndrome and enabling a tailored follow-up and prevention regime.

The positive result from the genetic test provided an accurate diagnosis and opened the way to genetic counselling and targeted genetic testing for Antonia’s son and at-risk relatives, allowing actionable measures in a life-threatening disorder and informed reproductive choices, including the possibility of preimplantation or prenatal diagnosis.