Family history of aortic dissection in fibrillin-1 pathogenic variant

Thoracic aortic aneurysms are silent but deadly diseases, causing aortic dissection leading to rupture. These events can be prevented by timely aortic root surgery.1 Therefore, the key to optimal timing of aortic surgery is to assess the patient's risk of aortic dissection. Aortic diameter is recognized as the main risk factor, but is imperfect. A family history of aortic dissection has been proposed as an additional risk factor that could be used to lower the threshold diameter for preventive surgery, in patients with heritable thoracic aortic diseases.1–3 FBN1 is the most frequently mutated gene in HTAD, allowing for a larger and more homogeneous study population.4 We evaluated the personal risk of aortic dissection in FBN1 carriers with and without a family history of aortic dissection. Patients are referred to the clinic for clinical suspicion of Marfan syndrome or familial screening for diagnostic and follow-up. Within a day, each patient undergoes a comprehensive evaluation including a cardiologist (and echocardiography), an ophthalmologist, a paediatrician or a rheumatologist, depending on the patient’s age. In addition, a geneticist and a genetic counsellor establish a complete pedigree, and blood is drawn for DNA analysis if necessary (young age of the patient, family history of TAAD, or syndromic features).