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Abstract
Clinical introduction A 55-year-old West African man was referred for routine echocardiography. He was completely asymptomatic, a non-smoker, working out at the gym several times weekly. He was taking hydrochlorothiazide for hypertension.
Clinical examination revealed a blood pressure of 156/74 mm Hg and systolic and diastolic murmurs suggestive of aortic insufficiency. Pulses were equal bilaterally and he had no marfanoid features or hyperelasticity. ECG showed mild left ventricular hypertrophy and chest X-ray revealed a normal cardiac shadow and mediastinum.
Transthoracic echocardiography demonstrated an unusual appearance above the aortic valve (figure 1A), moderate aortic regurgitation and a shadow in the aortic arch. Transoesophageal echocardiography was performed to evaluate the dilated aorta, arch and aortic valve further (figure 1B, C). The native aortic valve was trileaflet with moderate regurgitation. CT was also performed (figure 1D).
Question What is the most likely diagnosis?
Acute type A aortic dissection
Williams syndrome
Loa loa worm infection
Intimo-intimal intussusception
Giant cell aortitis
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(A) Transthoracic echo with shadow (arrow) above aortic valve. (B) Transoesophageal echo at the level of structure marked with arrow in (A). (C) Transoesophageal echo of aortic arch in systole. (D) CT of aortic arch.
Answer: D
The echocardiograms and CT imaging show hallmarks of intimo-intimal intussusception (III): a short dissection flap in the aortic root, no visible flap in the ascending aorta and a curvilinear or windsock-like shadow in the aortic arch (see online supplementary videos).1
Supplementary video
Supplementary video
Supplementary video
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Supplementary video
III is a rare complication of type A aortic dissections2 first described by Hufnagel et al in 1962 (as mentioned in Sanchez et al1). The intima dissects and strips circumferentially and either rolls up into the aortic arch compromising the major branch vessels or prolapses backwards into the left ventricle, causing severe aortic regurgitation.
The patient was commenced on a beta-blocker and referred for surgery (figure 2). He received a valved conduit as the aortic valve leaflets were not repairable. In retrospect, he recalled an episode of severe chest pain and headache 2 years earlier.
Image taken at surgery showing aortic valve surrounded by dissected intima and media and zoomed image on right.
Acute aortic dissection would be highly unlikely in a completely asymptomatic individual. However, case reports indicate asymptomatic dissection does occur, especially in Marfan syndrome. A total of 6.6% of patients in the International Registry of Acute Aortic Dissections registry denied chest pain.3 ,4
Williams syndrome is associated with supra aortic stenosis.
Loa loa worm infection affects the eyes and is not associated with aortic pathology.
Aortic aneurysm, dissection and aortic regurgitation may be late complications of giant cell aortitis, which has an average age of onset of 72 and symptoms of headache, scalp tenderness, jaw claudication, polymyalgia and a markedly elevated erythrocyte sedimentation rate.
Footnotes
Contributors All authors were involved with the clinical care of the patient. EM wrote the draft article and prepared the images and videos. AS and KZ both reviewed and approved the final draft and images.
Competing interests None declared.
Patient consent Obtained.
Ethics approval Johns Hopkins Aramco Healthcare.
Provenance and peer review Not commissioned; externally peer reviewed.