From the Guidelines
The diagnosis of Heyde syndrome should begin with an echocardiogram to confirm aortic stenosis, as recommended by the American College of Cardiology/American Heart Association guidelines 1. The diagnostic workup for Heyde syndrome involves a combination of tests to identify its key components: aortic stenosis and gastrointestinal bleeding from angiodysplasia.
- Echocardiography is the initial test of choice for diagnosing aortic stenosis, as it allows for the assessment of valve anatomy and function, as well as the determination of the left ventricular response to pressure overload 1.
- The echocardiogram should include Doppler measurements of maximum jet velocity, mean transvalvular pressure gradient, and continuity equation valve area to define the severity of the stenotic lesion.
- Following the confirmation of aortic stenosis, a gastrointestinal evaluation should be performed, typically starting with an upper endoscopy and colonoscopy to identify angiodysplastic lesions in the GI tract.
- Laboratory tests, including complete blood count, coagulation studies, and specialized von Willebrand factor (vWF) assays, should also be conducted to detect acquired von Willebrand disease, which is the pathophysiological link between aortic stenosis and bleeding.
- The vWF testing should include vWF antigen levels, ristocetin cofactor activity, and multimer analysis, as Heyde syndrome typically shows a characteristic loss of high molecular weight vWF multimers 1.
From the Research
Diagnostic Approach for Heyde Syndrome
To diagnose Heyde syndrome, the following steps can be taken:
- Identify patients with aortic stenosis and gastrointestinal bleeding, as these are key characteristics of the syndrome 2, 3, 4
- Perform upper and lower gastrointestinal endoscopy to rule out other sources of bleeding 3
- Use capsule endoscopy of the small intestine to detect capillary dilation or angiodysplasia 3
- Measure large von Willebrand factor multimers to diagnose acquired von Willebrand syndrome 3, 5, 4
- Consider aortic valve replacement surgery as a treatment option, which can improve anemia and associated symptoms 3, 4
Laboratory Tests and Diagnostic Criteria
The diagnosis of Heyde syndrome involves:
- Blood tests to detect deficiency in large von Willebrand factor multimers 3, 5, 4
- Echocardiography to detect severe aortic valve stenosis 3
- Laboratory tests to rule out other causes of anemia and bleeding 3
- A high index of suspicion and awareness of the syndrome among general practitioners and sub-specialists is necessary for early diagnosis 6
Treatment and Management
Treatment options for Heyde syndrome include:
- Aortic valve replacement surgery, which can improve hematological abnormalities and clinical symptoms 3, 4
- Localization of angiodysplastic bleeding points with cauterization, although this is associated with a high recurrence rate 4
- Recurrent blood transfusions may offer some symptomatic relief in patients deemed unfit for surgery 4
- Transcatheter aortic valve replacement may be a viable option in the current era of interventional cardiology 6