Hereditary hemorrhagic telangiectasia (HHT), also called Osler–Weber–Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease. This early diagnosis and genotyping can greatly reduce mortality for a patient with HHT through appropriate screening for complications. This review will focus on the gastrointestinal manifestations of HHT and how these can dictate treatment and prognosis.

Takayasu arteritis is a rare large vessel vasculitis with an incidence of 1 to 3 per million. This disease typically involves the aorta and its primary branches but has been found to involve the coronary arteries in 7% to 9% of cases. We highlight the need for prompt diagnosis and treatment. ( Level of Difficulty: Beginner. )

A 49-year-old man with a recent history of atrial tachycardia and intracardiac thrombus presented to the emergency department with melena and cardiac tamponade. Physical examination was notable for a vascular mass at the right lower gingival sulcus and a right chest wall nodule. Enteroscopy revealed a target lesion with friable ulcer in the gastric body. Cardiac MRI revealed a large right atrial mass, previously thought to represent thrombus. The patient was ultimately diagnosed with primary cardiac angiosarcoma (PCAS) by histopathology of gingival, gastric and subcutaneous lesions. This case illustrates the significant morbidity and mortality resulting from aggressive local invasion and growth of PCAS, as well as the challenge of differentiating between primary thrombosis and vascular malignancy. Misdiagnosis of this elusive clinical entity may be costly, potentially resulting in delay of intervention and adverse effects of alternate therapies such as anticoagulation.

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