A 38-year-old woman is admitted to the internal medicine service for chest pain. She is experiencing sharp chest pain unrelated to exertion and dyspnea for 2 days. Her family history is unknown since she was adopted. Past medical history is not well defined but notable for an uncharacterized connective tissue disorder. She was told at a younger age to avoid pregnancy.
Admission ECG and cardiac enzymes are negative. She is unable to exercise because of her symptoms and therefore is sent for an adenosine nuclear stress test. The test shows mild anteroseptal ischemia with no ECG changes. The cardiology service is consulted for a cardiac catheterization.
Physical Examination:
What should be done to more definitively characterize the patient’s condition?
DNA sequencing. Diagnosis of Ehlers-Danlos type IV is generally made based on clinical and family history and DNA sequencing for the COL3A1 gene mutations. However, a negative test does not definitively rule out disease since not all causative mutations are known. A punch biopsy of the skin to obtain fibroblasts for culture and detection of defective type III collagen can also be performed.
A 24-year-old man is referred to cardiology clinic for consultation regarding an aortic aneurysm. He has a family history of ascending aortic aneurysms. Echocardiography showed a trileaflet aortic valve and mid-ascending aortic aneurysm of 4.4 cm that is confirmed by CTA (Computed Tomography Angiography).
What is the patient’s diagnosis?
Loeys-Dietz syndrome. Loeys-Dietz is an autosomal dominant genetic aortic aneurysm syndrome. It predominantly involves children and young adults with risk of rapid progression to aneurysms, arterial tortuosity, and dissection. It is associated with a bifid uvula (shown in figure in question), cleft palate, and hypertelorism. Other clinical findings similar to Marfan syndrome may be present. Cogan syndrome is a rare large-vessel vasculitis that involves the aorta and is associated with vestibular and ocular abnormalities including uveitis and keratitis. Ormond disease is an inflammatory form of aortitis associated with retroperitoneal fibrosis. Behçet disease is an instead of a arteritis associated with oral and genital ulcers and skin lesions. Image of the oropharynx of a young boy with Loeys-Dietz syndrome showing a bifid uvula (see figure in question).
What is the gene defect associated with this condition?
TGFBR1 or TGFBR2. The genetic defect associated with Loeys-Dietz syndrome is a mutation in transforming growth factor β-receptor, TGFBR1 or TGFBR2. Table below shows the most common gene mutations associated with aortic diseases.
Most Common Mutations Associated with Aortic Diseases:
What further recommendation is correct regarding management of this patient?
Recommend aortic repair. Because of high risk of aortic dissection in patients with Loeys-Dietz, surgery is recommended at smaller aortic sizes. The 2010 guidelines for thoracic aortic diseases recommend aortic repair based on CTA or MRA for a dimension ≤4.4 cm.
A 40-year-old man is transferred via air ambulance to a level 1 trauma center after a motor vehicle accident (MVA). He had a head-to-head collision with another car traveling at a high speed and was propelled forward but was partially restrained by his seat belt and deployed air bags.
Physical Examination & Tests:
Which of the following diagnoses are most likely for this patient?
Descending aortic partial transection with pseudoaneurysm. The patient experienced blunt cardiac trauma with injury to the aorta. This type of deceleration MVA as occurs with a head-to-head car collision may result in catastrophic aortic transection, rupture, or pseudoaneurysm. The typical site of injury occurs at the aortic isthmus (level of the ligamentum arteriosum or junction of the aortic arch and descending thoracic aorta) as a result of fixation of the aorta to the spine by intercostal arteries. The favorable hemodynamics in this patient are not suggestive of either aortic transection or cardiac tamponade. The preserved upper extremity BP and reduced perfusion in the lower extremities are suggestive of partial transection of the descending aorta with a pseudoaneurysm. The pseudoaneurysm is suggested by the widening of the mediastinum on CXR.
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