Epidemiological profile of Marfan syndrome in a general population: a national database study

To explore the current epidemiological profile of Marfan syndrome in a general population.

Patients who had received a diagnosis of Marfan syndrome were identified from the Taiwan National Health Insurance database records from January 1, 2000, through December 31, 2012 (average population size, 22,765,535). Cardiovascular events and interventions were identified by using the respective International Classification of Diseases codes.

We identified 2329 patients (58% men) with Marfan syndrome. The overall prevalence was 10.2 (95% CI, 9.8-10.7) per 100,000 individuals, with peaks at the age of 15 to 19, 10 to 14, and 20 to 24 years. The minimal birth incidence of 23.3 (95% CI, 21.7-23.3) per 100,000 individuals was estimated in those aged 20 to 29 years. The average annual mortality was 0.23% (69 deaths), mostly owing to cardiac causes (including dissection and sudden death in 40 patients, 58%). Aortic dissection occurred in 226 patients (10%; 61% men) at a mean age of 36.6±10.7 years. The probability of freedom from dissection was 99%, 80%, and 66% at the age of 20, 40, and 50 years, respectively. Of the 69 deaths and 226 dissections during the follow-up period, more than half of the cases occurred before the age of 40 years. Cardiovascular intervention was performed in 360 patients, with early mortality being higher in the emergent operation group (8%) than in the elective group (0%).

From this national cohort study, the minimal birth incidence was 23.3 per 100,000 individuals, that is, possibly 1 patient with Marfan syndrome per 4286 people. Despite medical advances, aortic dissection still occurs in about one-tenth of the patients and carries a high mortality risk. Early diagnosis and timely medical interventions are warranted.