A new study, published in The Journal of Thoracic and Cardiovascular Surgery, highlights the serious risks associated with late diagnosis of Marfan syndrome (MFS). The research, carried out by Claus et al., shows that a diagnosis of Marfan syndrome after the age of 21 is strongly linked to an increased likelihood of unplanned aortic surgeries and cardiovascular-related deaths.
Marfan syndrome is a genetic disorder that primarily affects the connective tissue, particularly impacting the cardiovascular system, where it can lead to life-threatening complications. Current guidelines recommend optimal pharmacologic therapy (OPT) and elective replacement of the ascending aorta (RAA) at an aortic diameter of 5.0 cm to prevent acute type A aortic dissection (ATAAD) and subsequent death. However, the effects of the timing of diagnosis and therapy initiation on these outcomes had not been fully understood until now.
Key Findings from the Study:
- Late Diagnosis and Surgery Risk: The study reveals that late diagnosis (defined as age 21 years or older) is associated with an eight-fold higher risk of requiring delayed aortic surgery for aneurysms exceeding 5.0 cm or for acute type A aortic dissection.
- Increased Risk of Cardiovascular Death: Patients diagnosed later are at a four-fold increased risk of cardiovascular death compared to those diagnosed earlier.
- Study Overview: The cohort consisted of 288 patients, 58.7% of whom received a late diagnosis of Marfan syndrome. Of these, many underwent unplanned aortic surgery due to the progression of aneurysms or acute aortic dissections, with the risk of surgery and death significantly heightened in the late diagnosis group.
The study, conducted at a European Reference Network (VASCERN) centre, emphasises the importance of early diagnosis. Findings support the notion that timely identification of Marfan syndrome and the initiation of appropriate treatment are key to reducing life-threatening complications such as delayed aortic surgery and cardiovascular mortality.
Implications for Clinical Practice:
The authors advocate for improved population screening and earlier clinical and genetic testing for Marfan syndrome, particularly in those with a family history or characteristic features of the condition. Implementing these measures may lead to earlier detection, timely medical interventions, and ultimately, improved survival rates for individuals affected by this rare genetic disorder.
To read the full study, click this link.