A 22-year-old woman comes to the emergency department due to severe chest pain that she rates as 9/10. The pain started suddenly an hour ago and is constant. The patient also reports neck discomfort and right arm tingling. She has never experienced similar symptoms before. The patient has a history of short stature, scoliosis, and heart murmur. The patient does not use tobacco or illicit drugs. ECG shows sinus tachycardia without any significant ST segment changes. Urine pregnancy test is positive, and ultrasound shows a 12-week intrauterine pregnancy. Which of the following is the most likely cause of this patient's acute presentation?

Question

A 22-year-old woman comes to the emergency department due to severe chest pain that she rates as 9/10.  The pain started suddenly an hour ago and is constant.  The patient also reports neck discomfort and right arm tingling.  She has never experienced similar symptoms before.  The patient has a history of short stature, scoliosis, and heart murmur.  The patient does not use tobacco or illicit drugs.  ECG shows sinus tachycardia without any significant ST segment changes.  Urine pregnancy test is positive, and ultrasound shows a 12-week intrauterine pregnancy.  Which of the following is the most likely cause of this patient's acute presentation?

Quizplus · Accepted Answer

11ec25c8_d890_fc46_bc81_4ba4fde962f4_MD0003_00 Turner syndrome, one of the most common genetic conditions, is due to partial or complete loss of an X chromosome. Of the various presentations of Turner syndrome, short stature is nearly universal. Other frequent musculoskeletal abnormalities include micrognathia, cubitus valgus, short and webbed neck, broad chest with widely spaced nipples, and scoliosis. Renal disease and ovarian disorders (eg, decreased fertility) are also common. Cardiovascular manifestations of Turner syndrome include bicuspid aortic valve, aortic root dilation, aortic coarctation, and hypertension; these changes increase the risk for aortic dissection. The hemodynamic changes of pregnancy (eg, increased blood volume) place additional strain on the aorta and can further increase the risk of dissection. Acute dissection typically presents with sharp/tearing chest or back pain that can radiate to the neck and abdomen. Depending on extension of the aneurysm, nerve ischemia can lead to extremity tingling. Additional signs include asymmetry of pulses or blood pressure, hypotension, and aortic regurgitation. Most patients with Turner syndrome have infertility, and pregnancy is generally achieved through in vitro fertilization (IVF). Although rare, spontaneous pregnancy can occur in up to 5% of patients (as in this patient). However, because of the risk of aortic dissection and the associated mortality, the pursuit of IVF in patients with Turner syndrome requires careful consideration and in many cases (eg, cardiac anomalies) may be contraindicated. (Choice B) Patients are at an increased risk for myocardial infarction during pregnancy compared to similar age-matched controls. However, myocardial infarction remains rare in women of child-bearing age, and the risk is not increased with Turner syndrome. The absence of ECG changes further reduces the likelihood of this diagnosis, and the presentation of severe, constant chest pain associated with neck pain and tingling is more consistent with aortic dissection . (Choice C) Mitral regurgitation and heart failure can occur due to flail mitral leaflet, which is associated with mitral valve prolapse, endocarditis, and papillary muscle rupture. Turner syndrome is not associated with increased risk for these conditions. (Choice D) Pregnancy, especially through IVF, is associated with increased risk of venous thromboembolism. The risk is greatest in the later stages of pregnancy, and Turner syndrome does not further increase the risk. In addition, the absence of dyspnea, pleuritic chest pain, or lower extremity swelling reduces this possibility. (Choice E) Patients with Marfan syndrome have an elevated risk of spontaneous pneumothorax, which presents with dyspnea and pleuritic chest pain. However, Turner syndrome and pregnancy are not associated with a significantly elevated risk. Educational objective: Turner syndrome is due to partial or complete loss of an X chromosome. Common manifestations include musculoskeletal (eg, short stature, webbed neck), cardiovascular, renal, and ovarian (eg, infertility) disorders. Cardiovascular disease, including bicuspid aortic valve and aortic root dilation, places patients at an increased risk for aortic dissection; this risk is further increased during pregnancy. References: Reproductive issues in women with Turner syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/26568488) Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. (http://www.ncbi.nlm.nih.gov/pubmed/17873120)

A 22-Year-Old Woman Comes to the Emergency Department Due to Severe