A 32-year-old man is brought to the emergency department due to excruciating, sudden-onset chest and neck pain. He has no history of dyspnea, chest pain, or lower extremity edema. Height is 196 cm (6 ft 5 in) with long extremities. The hand joints show significant extensibility. Pectus carinatum deformity is present. Which of the following additional findings is likely in this patient?

Question

A 32-year-old man is brought to the emergency department due to excruciating, sudden-onset chest and neck pain.  He has no history of dyspnea, chest pain, or lower extremity edema.  Height is 196 cm (6 ft 5 in) with long extremities.  The hand joints show significant extensibility.  Pectus carinatum deformity is present.  Which of the following additional findings is likely in this patient?

Quizplus · Accepted Answer

11ec25c8_d177_82ec_bc81_fbe2fc9a35a8_MD0003_00 This patient has features of marfanoid habitus consistent with underlying Marfan syndrome; his sudden-onset neck and chest pain suggest acute aortic dissection. Marfan syndrome involves mutations that affect the extracellular matrix protein fibrillin-1 and result in disruption of connective tissue structural integrity throughout the body. The effects of the disease on the aortic root are especially prominent and account for the majority of morbidity and mortality in these patients; dissection, if it occurs, usually occurs prior to age 40. marfanoid habitus Aneurysmal aortic root dilation is extremely common in Marfan syndrome (up to 80% of cases) and can frequently lead to chronic aortic regurgitation, identified by an early decrescendo diastolic murmur best heard at the right upper sternal border. Left untreated, the aneurysmal dilation can progress to a type A aortic dissection that can extend to involve the aortic valve annulus, further impairing aortic valve closure and resulting in acute aortic regurgitation. The mortality rate for type A aortic dissection is high, and treatment requires emergent surgical repair. type A (Choice A) An S3 is a low-frequency diastolic sound that usually results from blood filling a volume-overloaded ventricle in heart failure. The valvular defects associated with Marfan syndrome may sometimes lead to chronic heart failure; however, this patient has had no such symptoms (eg, dyspnea, lower extremity edema). (Choice C) Wide and fixed splitting of S2 occurs with an atrial septal defect (ASD). Holt-Oram (heart-hand) syndrome is associated with both ASD and upper-limb bone deformities (eg, radius, carpals). (Choice D) Mitral stenosis causes an opening snap followed by a rumbling middiastolic murmur. Marfan syndrome is not associated with mitral stenosis but is frequently complicated by mitral valve prolapse, which is characterized by a mid-systolic click sometimes followed by a mid-to-late systolic murmur of mitral regurgitation. (Choice E) Pericardial friction rub occurs in pericarditis, which is not associated with Marfan syndrome. (Choice F) Pulsus parvus et tardus describes the weak and delayed arterial pulses observed with severe aortic stenosis. Aortic stenosis is not commonly associated with Marfan syndrome. Educational objective: Aortic root disease is the predominant cause of morbidity and mortality in patients with Marfan syndrome. Most patients have aneurysmal aortic root dilation that can progress to cause chronic aortic regurgitation or type A aortic dissection. If dissection occurs it is usually prior to age 40; it is a surgical emergency that may be complicated by acute aortic regurgitation. References: Therapy insight: aortic aneurysm and dissection in Marfan's syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/16265257)

A 32-Year-Old Man Is Brought to the Emergency Department Due