SESSION TITLE: Cardiovascular Student/Resident Case Report Posters I
SESSION TYPE: Medical Student/Resident Case Report
PRESENTED ON: Tuesday, October 29, 2013 at 01:30 PM - 02:30 PM
INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by arteriovenous malformations (AVMs) commonly occurring in the lungs, liver, and brain. A recent literature review identified only 89 HHT patients with symptomatic hepatic AVMs. Depending on the shunt pathway, symptomatic liver AVMs cause high output heart failure (HOHF), portal hypertension, or biliary ischemia. We present a patient initially treated for pulmonary hypertension later found to have HOHF secondary to shunting from liver AVMs.
CASE PRESENTATION: A 52-year-old woman with HHT status post right lower lobectomy secondary to pulmonary AVM (1995) and recent diagnosis of pulmonary hypertension on sildenafil was transferred with renal failure and significant peripheral edema. Three months earlier, the patient’s mild lower extremity edema rapidly worsened and she developed shortness of breath requiring supplemental oxygen. At the time, she underwent ECHO and catheterization that revealed elevated pulmonary pressures. Sildenafil was started for pulmonary hypertension without improvement in symptoms. During the current admission, heart catheterization showed elevated heart pressures with high cardiac output. Cardiac index was approximately twice normal, while cardiac output approached three times normal values. Sildenafil was stopped as catheterization confirmed suspicion of HOHF secondary to liver AVMs. Liver ultrasound revealed multiple AVMs. The patient was aggressively diuresed with moderate improvement in her edema and renal function. Hepatology was consulted for liver transplant evaluation in the event medical therapy failed.
DISCUSSION: Hepatic AVMs cause irregular blood flow due to a low-pressure outlet for high-pressure arterial blood, bypassing capillary beds and thus, decreasing systemic vascular resistance. The body compensates by increasing heart rate, stroke volume, and total plasma volume. Chronic volume overload causes ventricular enlargement, remodeling, and HOHF. HOHF requires treatment of the underlying cause - in our patient, the cause is massive A-V shunting. Hepatic artery embolization results in poor outcomes. Experimental therapy with bevacizumab has shown promise. The most effective and definitive treatment after medical therapy failure is liver transplantation.
CONCLUSIONS: Hepatic AVMs can cause elevated pulmonary pressures and HOHF. Patients with HHT are often seen by pulmonologists due to pulmonary AVMs or elevated pulmonary pressures. HHT is under-diagnosed; it is important to recognize this disorder as screening and management guidelines can significantly decrease morbidity and mortality.
Reference #1: Khalid S.K., Garcia-Tsao G. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia. Semin Liver Dis. 2008;28:247-258.
Reference #2: McDonald J, Bayrak-Toydemir P, Pyeritz R.E. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genetics in Medicine. 2011;13(7):607-616.
DISCLOSURE: The following authors have nothing to disclose: Noreen Murphy, James Runo
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