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Homozygous familial hyperlipidaemia presenting as severe aortic stenosis and unstable angina
  1. H H Ho,
  2. K M Miu,
  3. M H Jim

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A 51 year old man with a known history of homozygous familial hyperlipidaemia on regular plasmapheresis, presented with unstable angina. Examination of the precordium revealed a harsh ejection systolic murmur grade 4/6 over the aortic area with radiation to the neck. An ECG showed Q waves over the inferior leads, and sinus rhythm with left ventricular strain pattern. A coronary angiogram showed chronic total occlusion of the right coronary artery and minor disease over the left coronary vessels. Fluoroscopy showed dense calcification affecting the aortic valves and proximal portion of the ascending aorta. Transoesophageal echocardiography demonstrated severely calcified, immobile aortic valve trileaflets with valve area by planimetry of ∼0.8 cm2. A contrast enhanced multislice computed tomographic (CT) scan was performed to assess the extent of calcification of the aorta before referral for surgery (panels A–C: sagittal CT and corresponding three dimensional reconstruction images).

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Sagittal view of the aorta—note calcified atherosclerotic plaques extending from the aortic root upwards in the ascending thoracic aorta, arch and descending aorta, with plaques shown in panels B and C.

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Three dimensional reconstruction of image A—anterior view of the ascending aorta.

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Three dimensional reconstruction of image A—left anterior oblique view of aortic arch and descending aorta.