Snapshot A 32-year-old man presents to the emergency room for sudden onset of severe chest pain that radiates down his back. Physical exam reveals a tall and thin habitus, arachnodactyly, and pectus excavatum. Radiography shows widened mediastinum, concerning for an aortic dissection. Overview Introduction Clinical definition inherited connective tissue disorder characterized by aortic abnormalities and musculoskeletal deformities Epidemiology demographics clinical manifestations typically occur in adulthood Pathogenesis fibrillins form a major part of connective tissues and provide structural support and elasticity to blood vessels, skin, and bones abnormalities in fibrillin can result in aortic abnormalities (cystic medial necrosis) ectopic lens (structural weakness in ligaments of the lens) skeletal deformities Genetics inheritance pattern autosomal dominant mutations FBN1 gene is on chromosome 15 and encodes fibrillin-1, a glycoprotein that forms a protective sheath around elastin elastin is found in multiple parts of the body, including large arteries, skin, lungs, and ligaments Prognosis survival has improved with better management of aortic disease with early diagnosis and management, patients often have a normal life expectancy Presentation Symptoms aortic dilation, aneurysm, or dissection dissection will present as acute severe retrosternal chest pain radiating to the back pneumothorax Physical exam skeletal tall and thin stature long extremities arm span exceeds height long fingers and toes (arachnodactyly) thumbnail protrudes beyond ulnar border of hand when crossed (thumb sign) thumb and little finger can encircle wrist (wrist sign) pectus carinatum or excavatum scoliosis hypermobile joints ocular subluxation of lenses (superior and temporal) cardiovascular mitral valve prolapse mid-systolic click followed by a late systolic murmur aortic regurgitation diastolic murmur mitral regurgitation high-pitched holosystolic murmur Imaging Transthoracic echocardiography indication for all patients to evaluate for cardiac involvement findings mitral or aortic valve abnormalities aortic aneurysm or dissection Studies Making the diagnosis based on clinical presentation genetic testing is not always necessary but is diagnostic Differential Homocystinuria distinguishing factor lens subluxation is downwards mental retardation Ehlers-Danlos syndrome distinguishing factor hyperextensible skin and easy bruising middle-sized artery aneurysms > aortic aneurysms Treatment Management approach no curative treatment exists, so treatment is targeted at symptoms Conservative avoid high-impact contact sports indication for all patients Medical β-blockers or angiotensin receptor blockers indications to halt the progression of aortic root dilation Operative aortic aneurysm repair indication patients with aneurysms ≥ 4-4.5 cm cardiac valve repair indications patients with severe mitral or aortic valve disease Complications Aortic dissection most common cause of death Mitral valve prolapse Congestive heart failure from cardiac valve abnormalities
QUESTIONS 1 of 3 1 2 3 Previous Next (M2.OR.17.4798) A 28-year-old male presents to the emergency department with chest pain. He reports that one hour ago he was climbing the stairs in his home when he suddenly developed excruciating chest pain. He describes the pain as ripping and radiating to the back. The patient’s past medical history is significant for a heart murmur that is being followed by his outpatient cardiologist. He takes no medications. The patient works as a carpenter and reports being monogamous with his wife. He denies any history of intravenous drug use or recent travel. In the emergency department, the patient’s temperature is 99.4°F (37.4°C), blood pressure is 164/96 mmHg, pulse is 121/min, and respirations are 14/min. On physical exam, the patient appears to be in moderate distress and is clutching his chest. He is tall and has joint hypermobility. His breath sounds are equal and full bilaterally and has weak distal pulses. Which of the following is most likely to be found in this patient? QID: 109230 Type & Select Correct Answer 1 Holosystolic, high-pitched blowing murmur at the lower left sternal border 8% (2/26) 2 Late systolic crescendo murmur at the apex with mid-systolic click 19% (5/26) 3 Mid-diastolic murmur at the apex with opening snap 4% (1/26) 4 Mid-diastolic murmur at the left lower sternal border 35% (9/26) 5 Systolic ejection murmur at the right second intercostal space 35% (9/26) M 6 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review Tested Concept Review Full Topic Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M2.OR.17.4774) A 36-year-old male is brought to the emergency department by fire and rescue after being found down in his apartment by his wife. His wife reports that the patient had been complaining of chest pain for the last few hours but refused to go to the hospital. She went to the grocery store for about half an hour and found her husband unresponsive on the ground when she returned home. The patient’s wife reports that his past medical history is significant for a “heart murmur” and that the patient’s father died at age 32 for unknown reasons. In the trauma bay, the patient’s temperature is 98.8°F (37.1°C), blood pressure is 88/41 mmHg, pulse is 116/min, and respirations are 12/min. On physical exam, the patient has a Glascow Coma Score (GCS) of 7. He has a tall stature with long limbs and long, slender fingers. He is also noted to have a pectus deformity. On cardiac exam, the patient has a diastolic decrescendo murmur at the left third intercostal space. He has weak brachial and femoral pulses. Which of the following is the most likely etiology of this patient’s presentation? QID: 109120 Type & Select Correct Answer 1 Coronary atherosclerosis 0% (0/77) 2 Hypertrophic cardiomyopathy 1% (1/77) 3 Spontaneous rupture of the aorta 48% (37/77) 4 Spontaneous rupture of the mitral chordae tendinae 9% (7/77) 5 Spontaneous separation in the arterial wall 39% (30/77) M 6 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 5 Review Tested Concept Review Full Topic
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