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Hereditary Hemangiotelangiectasis (HHT)

  Case radiograph

Contributor: Stephen Marshalko, MD, PhD
Echo contrast Echo SA

Hereditary Hemorrhagic Telangiectasia (HHT), also called Osler-Weber-Rendu is a genetic disorder of blood vessels, which results in the development of arteriovenous malformations (AVMs) or smaller telangiectasias. Telangiectasias occur on body surfaces including the skin and lining of the nose, while AVMs occur in internal organs including the lungs, intestines and liver. Bleeding events caused by rupture of these AVMs or telangiectasias are common.

Occasionally, these pulmonary AVMs are so large that they are visible on a plain chest x-ray (CXR). As depicted here, prominent vascular malformations can be identified in the right middle lobe adjacent to the right heart border. In addition to screening CXR and helical CT, contrast echo, using intravenous agitated saline injection can identify presence of pulmonary AVMs. Transit of agitated saline or 'bubbles' from the right-sided cardiac chambers to the left-sided chambers reliably demonstrates shunting through AVMs in the pulmonary vasculature. Treatment for these AVMs includes coil embolization, which occludes these abnormal connections and prevents future right-to-left embolization and cerebrovascular accidents.

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