Heyde's syndrome

Overview

Heyde's syndrome is a clinical condition characterized by the combination of aortic stenosis and gastrointestinal (GI) bleeding due to angiodysplasia, most commonly in the colon. First described in 1958 by Dr. Edward C. Heyde, the syndrome is now recognized as an important and potentially underdiagnosed cause of chronic or recurrent GI bleeding in elderly patients with heart valve disease. The bleeding is often difficult to control until the aortic stenosis is addressed, highlighting the close pathophysiological connection between the cardiac and gastrointestinal components.

Causes

Heyde's syndrome is believed to result from a combination of mechanical and hematologic factors related to severe aortic stenosis:

• Aortic stenosis: Narrowing of the aortic valve causes high shear stress on circulating blood components.

• Acquired von Willebrand syndrome (type 2A): High shear forces degrade von Willebrand factor (vWF), a protein essential for platelet adhesion. This results in a bleeding tendency, especially from fragile blood vessels like angiodysplasias.

• Angiodysplasia: Dilated, fragile blood vessels, often in the colon, that are prone to bleeding. These may develop or worsen due to chronic low-flow states or hypoxia in the GI tract.

The interplay of these factors creates a cycle where reduced vWF levels due to aortic stenosis exacerbate bleeding from angiodysplasias.

Symptoms

The symptoms of Heyde's syndrome typically reflect both cardiac and gastrointestinal involvement. Common signs include:

• GI bleeding: Occult or overt bleeding, such as melena (black stools) or hematochezia (bright red blood per rectum)

• Iron-deficiency anemia: Fatigue, pallor, shortness of breath due to chronic blood loss

• Aortic stenosis symptoms:

  • Chest pain (angina)

  • Shortness of breath, especially during exertion

  • Syncope or lightheadedness

In many patients, the GI bleeding is recurrent and difficult to manage with standard interventions.

Diagnosis

Diagnosis of Heyde's syndrome involves a combination of clinical assessment and specialized testing. Key diagnostic steps include:

• History and physical exam: Evidence of chronic anemia and symptoms of aortic stenosis

• Echocardiography: To evaluate the severity of aortic stenosis

• Endoscopy (colonoscopy or upper GI endoscopy): To identify angiodysplasia or other bleeding sources

• Laboratory tests:

  • Complete blood count (CBC) showing anemia

  • Iron studies indicating iron-deficiency

  • Coagulation studies including vWF antigen and activity

• vWF multimer analysis: May show loss of high-molecular-weight multimers typical of acquired von Willebrand syndrome

Treatment

Effective treatment of Heyde's syndrome requires addressing both the bleeding and the underlying aortic stenosis:

• Aortic valve replacement (AVR): Surgical or transcatheter aortic valve replacement (TAVR) often leads to resolution of GI bleeding and normalization of vWF levels

• Endoscopic therapy: Argon plasma coagulation or clipping may be used to treat visible angiodysplasias

• Iron supplementation: Oral or intravenous iron to treat anemia

• Blood transfusions: As needed in cases of acute or severe blood loss

• Desmopressin (DDAVP): May transiently improve vWF function but is not a long-term solution

AVR is the most definitive and often curative treatment for the syndrome, even in elderly or high-risk patients, particularly when done via TAVR.

Prognosis

The prognosis of Heyde's syndrome depends on timely recognition and management of the underlying aortic stenosis. Without valve replacement, patients may experience recurrent, life-threatening bleeding and progressive heart failure. Following AVR or TAVR, most patients experience significant improvement or complete resolution of GI bleeding. Long-term outcomes are favorable if the cardiac condition is corrected and the gastrointestinal bleeding is monitored and treated appropriately. Early multidisciplinary care is essential to improving quality of life and survival.