A 38-year-old man is brought to the emergency department due to sudden-onset shortness of breath and diaphoresis. He has no fever, chills, cough, or abdominal pain. The patient has no other medical problems and takes no medications. He had surgery for bilateral inguinal hernias at age 16. The patient does not use tobacco, alcohol, or illicit drugs. Blood pressure is 95/60 mm Hg, pulse is 116/min and regular, and respirations are 28/min. He is in marked respiratory distress. Pallor and diaphoresis are noted. His skin is velvety and has many atrophic scars. The apical impulse is hyperdynamic. Cardiac auscultation reveals a soft, early-systolic decrescendo murmur at the cardiac apex. S1 is barely audible; S2 is normal. Lung examination reveals bibasilar crackles. Jugular venous distension is present. The abdomen is soft, nontender, and nondistended. Neurologic examination shows no abnormalities. ECG shows sinus tachycardia with occasional premature ventricular complexes. Chest x-ray reveals no cardiomegaly, but bilateral alveolar infiltrates and hilar prominence are present. The patient feels better after receiving appropriate therapy. A more detailed physical examination shows the presence of thoracolumbar scoliosis. Serial cardiac enzymes are negative. Arterial blood gas analysis shows respiratory alkalosis. Complete blood cell count and serum chemistry results are unremarkable. Which of the following is the most likely diagnosis?
A)Coronary artery disease
B)Ehlers-Danlos syndrome
C)Marfan syndrome
D)Rheumatic fever
E)Thyrotoxicosis

Question

A 38-year-old man is brought to the emergency department due to sudden-onset shortness of breath and diaphoresis.  He has no fever, chills, cough, or abdominal pain.  The patient has no other medical problems and takes no medications.  He had surgery for bilateral inguinal hernias at age 16.  The patient does not use tobacco, alcohol, or illicit drugs.  Blood pressure is 95/60 mm Hg, pulse is 116/min and regular, and respirations are 28/min.  He is in marked respiratory distress.  Pallor and diaphoresis are noted.  His skin is velvety and has many atrophic scars.  The apical impulse is hyperdynamic.  Cardiac auscultation reveals a soft, early-systolic decrescendo murmur at the cardiac apex.  S1 is barely audible; S2 is normal.  Lung examination reveals bibasilar crackles.  Jugular venous distension is present.  The abdomen is soft, nontender, and nondistended.  Neurologic examination shows no abnormalities.  ECG shows sinus tachycardia with occasional premature ventricular complexes.  Chest x-ray reveals no cardiomegaly, but bilateral alveolar infiltrates and hilar prominence are present. The patient feels better after receiving appropriate therapy.  A more detailed physical examination shows the presence of thoracolumbar scoliosis.  Serial cardiac enzymes are negative.  Arterial blood gas analysis shows respiratory alkalosis.  Complete blood cell count and serum chemistry results are unremarkable.  Which of the following is the most likely diagnosis?
A)Coronary artery disease
B)Ehlers-Danlos syndrome
C)Marfan syndrome
D)Rheumatic fever
E)Thyrotoxicosis

Quizplus · Accepted Answer

Explanation: 11ec2b69_c119_8be7_8f63_e5a4c07dfc75_MD0005_00 This patient most likely has Ehlers-Danlos syndrome (EDS), a connective tissue disorder characterized by joint hypermobility, recurrent joint dislocations, hyperextensible skin with easy bruisability, and delayed healing with atrophic scars. Patients may have associated skeletal abnormalities, including thoracolumbar scoliosis, pectus excavatum, and pes planus. Other features include hernias, cervical insufficiency, and uterine prolapse. Mitral valve prolapse with myxomatous degeneration of the valvular apparatus is a complication of EDS and can lead to rupture of the chordae tendineae and acute mitral valve regurgitation (MR). joint hypermobility hyperextensible skin atrophic scars (Choice A) Although coronary artery disease can lead to acute MR due to ischemia-induced papillary muscle rupture, coronary artery disease would not explain this patient's scoliosis or skin findings. (Choice C) Marfan syndrome shares many features with EDS. Both diseases can cause scoliosis as well as myxomatous mitral valve degeneration and chordae tendineae rupture, leading to acute MR. However, skin findings are much less prominent in Marfan syndrome; this patient's velvety skin with atrophic scarring is consistent with EDS. Marfan syndrome (Choice D) Acute rheumatic fever is an inflammatory condition most often seen following group A streptococcal infection. Major manifestations are migratory arthritis, carditis or valvulitis, central nervous system involvement with Sydenham chorea, erythema marginatum, and subcutaneous nodules. Chronic MR is a common sequela of rheumatic fever, but acute MR is rare. (Choice E) Thyrotoxicosis can lead to high-output heart failure, but it does not cause acute MR and would not explain this patient's skin changes with atrophic scarring. Educational objective: Ehlers-Danlos syndrome is characterized by connective tissue abnormalities, including joint hypermobility, recurrent joint dislocations, hyperextensible skin that is velvety and easily bruised, and atrophic scars. Patients can develop acute mitral valve regurgitation secondary to myxomatous degeneration and rupture of the chordae tendineae. References: The Ehlers-Danlos syndrome, a disorder with many faces. (http://www.ncbi.nlm.nih.gov/pubmed/22353005) Ehlers-Danlos syndromes and Marfan syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/18328988)

A 38-Year-Old Man Is Brought to the Emergency Department Due