Recommendations for periodic physical examination of the cardiovascular system in patients with Marfan’s syndrome

  Dilated aortic root lesions in patients with Marfan syndrome are usually progressive with increasing age. The absence of aortic root dilatation on a single physical examination does not exclude the diagnosis of Marfan syndrome.  For patients with manifestations of systems other than cardiovascular that meet the diagnostic criteria for Marfan syndrome, it is recommended that cardiac ultrasound should be performed at least once a year.  Imaging of the heart and aorta should be performed more frequently, such as once every six months or once every three months, when the aortic root diameter is dilated to a degree approaching surgical intervention (more than 45 mm in adults, refer to the corresponding ratio in children), or when the rate of dilatation is rapid (increasing more than 5 mm per year), or when cardiac or valvular function is impaired.  In patients under 20 years of age with clinical manifestations consistent with Marfan syndrome in all systemic systems, but with no lesions in the cardiovascular system at this time, cardiovascular lesions may develop rapidly at some age, so annual cardiovascular ultrasound is recommended.  For adult patients whose aortic root diameter is found to remain at a more stable level without a trend toward progressive dilatation on periodic review, cardiovascular ultrasound may be reviewed once every 2-3 years.  Summary: Except for some adult patients with multiple regular ultrasound examinations suggesting no significant trend of increasing aortic root diameter, who can have cardiac ultrasound every 2-3 years, the majority of patients (including adolescents) need cardiac ultrasound once a year, while some high-risk patients need cardiac ultrasound 2-4 times a year.