A 26-year-old man comes to the physician for a pre-employment physical evaluation. He has no known medical problems.
The patient weighs 65 kg (143.3 lb) and is 190.5 cm (6' 3") tall. There is a faint early diastolic murmur best heard in the second right intercostal space. He has mild scoliosis. Physical examination findings in the extremities are shown in the exhibits.
Which of the following is the most appropriate next step in management of this patient?

Question

A 26-year-old man comes to the physician for a pre-employment physical evaluation.  He has no known medical problems.
The patient weighs 65 kg (143.3 lb) and is 190.5 cm (6' 3") tall.  There is a faint early diastolic murmur best heard in the second right intercostal space.  He has mild scoliosis.  Physical examination findings in the extremities are shown in the exhibits. 
Which of the following is the most appropriate next step in management of this patient?

Quizplus · Accepted Answer

Aortic regurgitation (early diastolic murmur at the second right intercostal space) in association with long extremities and scoliosis are suggestive of Marfan syndrome (MFS) with aortic root dilation. MFS is an autosomal dominant disorder that causes abnormalities in the skeleton, eyes (lens dislocation), and cardiovascular system. This patient also has positive wrist (thumb overlaps other fingers when wrapped around the contralateral wrist) and thumb (entire distal phalanx protrudes beyond the ulnar border of a clenched fist) signs due to long slender fingers (arachnodactyly). abnormalities skeleton Aortic root dilation can be found in approximately 50% of children and 60%-80% of adults with MFS. Aortic dissection is the cause of death in 30%-45% of patients, followed by heart failure. Transthoracic echocardiography is recommended at the initial diagnosis and at routine intervals for close monitoring of the aortic root and ascending aorta. Elective operation is recommended for aortic root diameter >50 mm to reduce the risk of aortic dissection or rupture. (Choice A) Antinuclear antibody testing is used for the diagnosis of systemic lupus erythematosus (SLE) and other autoimmune diseases (eg, systemic sclerosis, rheumatoid arthritis). Some studies have reported an association of Klinefelter syndrome (KS) with SLE, but there is no such association with MFS. (Choice B) Chromosomal karyotype analysis is indicated for diagnosis of KS (47,XXY karyotype). KS is characterized by hypogonadism (small testes, azoospermia, oligospermia), gynecomastia, and learning disabilities and/or behavioral problems. There are usually no cardiac abnormalities associated with KS. KS (Choice C) Homocystinuria is an autosomal recessive disorder that presents with fair complexion, Marfanoid body habitus, developmental delays, and hypercoagulability. It is not associated with aortic root dilation. (Choice D) Diagnosis of MFS is based on the presence of aortic root dilation, ectopia lentis, family history, fibrillin-1 (FBN1) gene mutation, and other systemic signs/symptoms of MFS. Skin biopsy is not helpful for MFS diagnosis but may be performed in the evaluation of patients with Ehlers-Danlos syndrome. Ehlers-Danlos syndrome Educational objective: Aortic root disease, leading to aneurysmal dilation and dissection, is a common complication of Marfan syndrome, and is the main cause of morbidity and mortality in these patients. Transthoracic echocardiogram is recommended at initial diagnosis and at regular follow-up intervals. __________ References: Recent developments in the diagnosis of Marfan syndrome and related disorders. (http://www.ncbi.nlm.nih.gov/pubmed/23121584) Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/21332468) Aortic root disease in athletes: aortic root dilation, anomalous coronary artery, bicuspid aortic valve, and Marfan's syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/23674060)

A 26-Year-Old Man Comes to the Physician for a Pre-Employment