OBJECTIVE: To present the case of an elite female basketball player with Marfan syndrome diagnosed after a heart murmur was found on preparticipation screening examination. BACKGROUND: Undetected Marfan syndrome can result in sudden death during competition or practice. While those with Marfan syndrome often present with characteristic skeletal and ocular manifestations, the condition can go unnoticed if the athlete is not exceptionally lean. DIFFERENTIAL DIAGNOSIS: Homocystinuria. TREATMENT: After a heart murmur was detected on a preparticipation examination, the athlete was referred to a cardiologist, who advised the athlete to discontinue vigorous athletic activity and undergo surgery to replace the ascending aorta and aortic valve with a composite graft tube and valve. She is presently waiting to undergo surgery. UNIQUENESS: The athlete had neither an ectomorphic body build nor a family history of Marfan syndrome. CONCLUSIONS: ATHLETIC TRAINERS CAN PLAY AN IMPORTANT ROLE IN THE EARLY DETECTION OF MARFAN SYNDROME VIA A SIMPLE SCREENING PROCEDURE: comparing the athlete's arm span and height.
OBJECTIVE: To present the case of an elite female basketball player with Marfan syndrome diagnosed after a heart murmur was found on preparticipation screening examination. BACKGROUND: Undetected Marfan syndrome can result in sudden death during competition or practice. While those with Marfan syndrome often present with characteristic skeletal and ocular manifestations, the condition can go unnoticed if the athlete is not exceptionally lean. DIFFERENTIAL DIAGNOSIS: Homocystinuria. TREATMENT: After a heart murmur was detected on a preparticipation examination, the athlete was referred to a cardiologist, who advised the athlete to discontinue vigorous athletic activity and undergo surgery to replace the ascending aorta and aortic valve with a composite graft tube and valve. She is presently waiting to undergo surgery. UNIQUENESS: The athlete had neither an ectomorphic body build nor a family history of Marfan syndrome. CONCLUSIONS: ATHLETIC TRAINERS CAN PLAY AN IMPORTANT ROLE IN THE EARLY DETECTION OF MARFAN SYNDROME VIA A SIMPLE SCREENING PROCEDURE: comparing the athlete's arm span and height.
Authors: P Beighton; A de Paepe; D Danks; G Finidori; T Gedde-Dahl; R Goodman; J G Hall; D W Hollister; W Horton; V A McKusick Journal: Am J Med Genet Date: 1988-03
Authors: Ricardo Stein; Juan Pablo Trujillo; Anderson Donelli da Silveira; Arsonval Lamounier Júnior; Lorenzo Monserrat Iglesias Journal: Arq Bras Cardiol Date: 2017-03-06 Impact factor: 2.000