A 12-year-old boy is brought to the clinic by his mother for a preparticipation sports physical. The patient will be starting 6th grade in a few weeks and would like to join his school's cross-country team. He ran several short races last year and had no chest pain, shortness of breath, or dizziness. Last year, he did well in school and received mostly As and Bs. The patient has a good relationship with his parents and has many friends. He wears eyeglasses for myopia. He has no allergies or other medical conditions. His grandfather died of a "brain bleed" at age 75. The patient's height and weight are at the 98th and 50th percentiles, respectively. Temperature is 37 C (98.6 F), blood pressure is 110/72 mm Hg, pulse is 80/min, and respirations are 20/min. Cranial nerves II-XII are intact. Cardiac examination reveals a regular rate and rhythm. The lungs are clear to auscultation bilaterally. Achilles and patellar deep tendon reflexes are 2+ bilaterally. The patient's arm span to height ratio is increased. Physical examination is otherwise unremarkable. Which of the following is the best next step in management?

Question

A 12-year-old boy is brought to the clinic by his mother for a preparticipation sports physical.  The patient will be starting 6th grade in a few weeks and would like to join his school's cross-country team.  He ran several short races last year and had no chest pain, shortness of breath, or dizziness.  Last year, he did well in school and received mostly As and Bs.  The patient has a good relationship with his parents and has many friends.  He wears eyeglasses for myopia.  He has no allergies or other medical conditions.  His grandfather died of a "brain bleed" at age 75.  The patient's height and weight are at the 98th and 50th percentiles, respectively.  Temperature is 37 C (98.6 F), blood pressure is 110/72 mm Hg, pulse is 80/min, and respirations are 20/min.  Cranial nerves II-XII are intact.  Cardiac examination reveals a regular rate and rhythm.  The lungs are clear to auscultation bilaterally.  Achilles and patellar deep tendon reflexes are 2+ bilaterally.  The patient's arm span to height ratio is increased.  Physical examination is otherwise unremarkable.  Which of the following is the best next step in management?

Quizplus · Accepted Answer

Explanation: 11ec2b69_be37_c85a_8f63_598f854be660_MD0005_00 The most crucial component of a preparticipation sports physical is identification of any risk factors for sudden cardiac death during intense exercise. Evaluation should include close attention to any physical stigmata of undiagnosed Marfan syndrome (MFS). MFS is an autosomal dominant disorder caused by mutations in the FBN1 gene encoding the protein fibrillin-1. This patient has characteristic findings, including tall stature, increased arm span to height ratio, and myopia. Diagnosis is based on the presence of multiple clinical features. The main cause of morbidity and mortality in patients with MFS is aortic root disease, manifesting as aneurysmal dilation, aortic regurgitation, and/or dissection. Patients with suspected MFS require an echocardiogram prior to sports participation. If aortic root disease and/or a family history of aortic dissection or sudden death is present, patients are counseled to avoid strenuous physical activity, with intense/contact sports (eg, track, basketball, football) generally restricted. (Choice B) Klinefelter syndrome (47,XXY) can present with tall stature and is diagnosed by karyotype. However, gynecomastia and small or cryptorchid testes, not seen in this patient, are typically present in Klinefelter syndrome. (Choice C) MRI/MRA of the brain can identify berry aneurysms, which occur more commonly in Ehlers-Danlos syndrome, in contrast to aortic aneurysms in MFS. Joint hypermobility and skin hyperextensibility are characteristic of Ehlers-Danlos syndrome. (Choice D) A patient with a Marfanoid habitus should be restricted from sports participation until the aortic root has been evaluated. (Choice E) Serum growth hormone level is elevated in gigantism. Patients are typically tall but also have excessive weight gain and coarse facial features with frontal bossing, which are not seen in this patient. Educational objective: Marfan syndrome should be suspected in patients with tall stature, myopia, and increased arm span to height ratio. Because these patients are at higher risk for sudden cardiac death due to aortic root disease, screening echocardiography is required prior to sports participation. References: Health supervision for children with Marfan syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/24081994) The preparticipation sports evaluation. (http://www.ncbi.nlm.nih.gov/pubmed/26371570)

A 12-Year-Old Boy Is Brought to the Clinic by His