Marfan syndrome: screening for sudden death in athletes

Area of Science:

• Cardiology
• Genetics
• Sports Medicine

Background:

• Marfan syndrome is an autosomal-dominant connective tissue disorder impacting multiple organ systems.
• Sudden cardiac death in athletes is often linked to aortic root aneurysm rupture or dissection in Marfan syndrome patients.
• Variable penetration of Marfan syndrome necessitates thorough screening protocols.

Purpose of the Study:

• To highlight Marfan syndrome as a significant, preventable cause of sudden cardiac death in athletes.
• To emphasize the importance of preparticipation evaluations in identifying at-risk athletes.
• To outline diagnostic strategies for Marfan syndrome in athletic populations.

Main Methods:

• Utilizing directed family and personal history taking during preparticipation evaluations.
• Screening for characteristic physical stigmata associated with Marfan syndrome.
• Employing echocardiography for cardiovascular assessment in suspected cases.

Main Results:

• Characteristic historic and clinical findings aid in early Marfan syndrome detection.
• Echocardiography is crucial for ruling out cardiovascular involvement.
• Prompt diagnosis allows for timely intervention and management.

Conclusions:

• Marfan syndrome is a critical consideration in athlete sudden cardiac death prevention.
• Comprehensive screening protocols, including family history and physical examination, are vital.
• Early detection and management through echocardiography can prevent fatal cardiovascular events in athletes with Marfan syndrome.