A 30-year-old man is referred to cardiology clinic for evaluation of a heart murmur. He had an uneventful childhood except that on four separate occasions he fractured his arms or legs requiring multiple surgical repairs. He has no family history of heart disease or congenital abnormalities.
Physical Examination:
What is the most likely diagnosis for this patient?
Osteogenesis imperfecta. The patient has osteogenesis imperfecta, a heritable disease of the connective tissue with mutations in procollagen that are associated with bone fragility (with multiple fractures), ocular changes (most notably blue sclerae), abnormal dentition, and hearing loss. Cardiovascular manifestations may occur and are similar to Marfan syndrome with aortic root dilatation, aortic regurgitation, and mitral valve prolapse.
A 65-year-old man presents to the ER with severe, tearing lower back pain that started while he was shoveling snow. He has a history of poorly controlled HTN and coronary artery disease with a stent to the left anterior descending coronary artery 4 months previously. Other medical problems include severe O2 - dependent chronic obstructive pulmonary disease.
Physical Examination & tests:
What is the most appropriate initial medical therapy?
Intravenous diltiazem. The initial management of aortic dissection is aimed at reduction in heart rate, BP, LV wall stress, and the force of LV contraction (dp /dt ). The goals are a heart rate less than 60 bpm and BP less than 120 mmHg systolic. β-Blockers are the drug of choice if contraindications are not present. The patient described has severe COPD and therefore if a β-blocker is used it should be short-acting esmolol and not metoprolol. Otherwise, nondihydropyridine calcium-channel blocking agents such as diltiazem and verapamil are alternative options. Vasodilator therapy such as intravenous nitroprusside is contraindicated when initiated prior to atrioventricular blockade because of associated increase in reflex tachycardia, aortic wall stress, and LV force of contraction.
A CT angiogram is performed (figure below).
Which of the following statements regarding the appearance of this form of acute aortic syndrome is most accurate?
It is circumferential or crescentic. The CT demonstrates an intramural hematoma involving the descending aorta. The mechanism for intramural hematomas is thought due to rupture of the vasa vasorum in the media or small intimal tears. Typical features as seen by CT include the following:
Additional features that are seen by TEE include echolucent regions with flow consistent with intramural blood vessels.
Of note, the 2010 guidelines for thoracic aortic diseases state that intramural hematoma should be treated similar to aortic dissection in the corresponding segment of the aorta. Computed tomographic angiography axial image showing a descending thoracic aortic intramural hematoma. The intramural hematoma is evident given the circumferential appearance of high attenuation density of the aortic wall (see figure in question).
A 44-year-old man is admitted to the hospital because of a left hemisphere stroke with right arm and leg weakness. He has no history of HTN or smoking, although his total cholesterol level is 334. ECG shows sinus rhythm. Carotid duplex ultrasound shows less than 20% obstruction bilaterally. Head CT demonstrates a recent stroke in the left cortex in the region of the middle cerebral artery. A TTE shows normal valves, chamber sizes, and LV function.
Which test is most likely to reveal the etiology of the patient’s stroke?
TEE. A cardioembolic source of stroke is most likely given the territory of a middle cerebral artery event. The patient has a cholesterol level >300 suggestive of a heritable dyslipidemia and premature atherosclerosis and therefore aortic atheroma would be the most likely finding. A patent foramen ovale may be an alternative source of emboli in this young patient and would be the most likely etiology if the patient did not have a lipid disorder. Intracranial small-vessel disease detected by MRA would be less likely despite a dyslipidemic disorder. There is no information to suggest atrial fibrillation and therefore an event recorder would not likely be revealing.
Which of the following medical regimens is most appropriate for a patient with a cardioembolic stroke and the following finding seen on TEE (figure below).
Statin and aspirin. The TEE shows a large protruding sessile atheroma in the distal descending aorta/distal aortic arch. Treatment for aortic atheroma remains controversial. Antiplatelet therapies such as aspirin and statins are the mainstay of treatment. Systemic anticoagulation with warfarin or warfarin alternatives is unproven due to limited data. However, several observational reports particularly for aortic arch atheroma demonstrate resolution or reduction of large mobile thrombus/atheroma and embolic events in patients on warfarin. Transesophageal echocardiogram with a short-axis view of the upper descending aorta. A large sessile protruding atheromatous plaque is seen (see figure in question)
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