Case Presentation:
An 80-year-old man with a past medical history of chronic lymphocytic leukemia, coronary artery disease, diabetic chronic kidney disease and heart failure reduced ejection fractionwith two months of intermittent hematochezia. Since onset of symptoms, the patient had required nine transfusions. His admission exam was remarkable for jugular venous distension, trace ankle edema, a 2/6 systolic ejection murmur, and mild right lower quadrant tenderness. The initial hemoglobin was 7. The patient was prepped for colonoscopy. Given the presence of a murmur, a transthoracic echocardiogram (TTE) was obtained for pre-procedural cardiac risk assessment. The TTE showed moderate aortic stenosis with a valve area of 1.2 cm2 and valve mean pressure gradient of 18mmHg. A colonoscopy demonstrated multiple angioectasias in the cecum identified as the likely source of bleeding. These were cauterized with Argon plasma coagulation. The patient was ultimately diagnosed with Heyde’s syndrome. Following GI intervention, he had no subsequent bleeding and was discharged with his regular specialist follow-up.
Discussion:
Heyde’s syndrome is characterized by the presence of gastrointestinal (GI) angioectasias in those with aortic valve stenosis. The syndrome was first detected by E.C Heyde, a general internist in 1958 with a clinical observation that led to a flurry of multidisciplinary research over the next half century. The correlation of angioectatic GI bleeding with valve disease severity, reversal of bleeding with aortic valve replacement, and eventual discovery of the molecular mechanism responsible for this acquired von Willebrand deficiency has confirmed that separate and coexisting disease entities are linked by an altered hematologic state. A stenotic aortic valve leads to structural changes of the von Willebrand protein followed by abnormal cleaving by the ADAMST13 enzyme, thus altering platelet aggregation in angioectatic vessels. The occurrence of GI bleeding is, in fact, best reduced not with GI procedures, but by removal and replacement of the diseased aortic valve to restore normal hemostasis
Conclusions:
Heyde’s syndrome has morphed from an observation of Occam’s razor, to that of a molecular causation which might impact disease pathogenicity and complications. This patient’s admission for a GI hemorrhage led to a pre-procedural cardiac risk evaluation which included an echocardiogram to determine the presence of significant valvular or structural cardiac disease. The presence of aortic stenosis should be considered in a broad differential of GI hemorrhage sources. Likewise, the complication of recurrent GI bleeding or iron-deficiency anemia should be forewarned in patients with progression of valvular disease severity.