Combined Cardiac and Liver Transplantation for the Treatment of Familial Amyloidosis

A 55-year-old white man presented with weight loss and diarrhea in 2002. An extensive workup, including colonoscopy and gastrointestinal biopsy, led to a diagnosis of familial transthyretin amyloidosis (Appalachian variant). The patient had a steady decline over the next 2 years, including progressive weakness, peripheral neuropathy, and wasting. Because of the clinical progression, he underwent evaluation for liver transplantation. During this workup, an echocardiogram demonstrated right ventricular enlargement, pulmonary pressures in excess of 50 mm Hg (based on tricuspid regurgitation), a small pericardial effusion, and an increased echogenicity of the myocardium (Figure ​(Figure11). These findings were consistent with cardiac amyloid. Figure 1 Echocardiogram demonstrating increased echogenicity of the myocardium in (a) the parasternal long and (b) four-chamber views. A small pericardial effusionis noted (arrows). (c) Mitral valve inflow demonstrates “pseudonormalization” of ... Right heart catheterization demonstrated a mean right atrial pressure of 12.1 mm Hg. The other pressures were as follows (mm Hg): right ventricular, 56/14; pulmonary arterial, 54/25, with a mean of 38; pulmonary capillary wedge, 23.4; right ventricular end diastolic, 12; and left ventricular end diastolic, 26. The cardiac output was 5.2 L/min, and the cardiac index was 2.5 L/min/m2. The overall ejection fraction was 55% without wall motion abnormalities. A vasodilator challenge (Nipride) was performed to evaluate for the presence of reversible pulmonary hypertension. With infusion of Nipride, the patient's pulmonary arterial pressure decreased from 54/25 to 43/18 mm Hg, and the mean pressure decreased from 38 to 32 mm Hg, suggesting that the pulmonary hypertension was reversible. Left heart catheterization demonstrated coronary arteries without significant atherosclerosis. Six biopsy specimens of myocardium from the right ventricular septum were obtained percutaneously using fluoroscopic guidance. Five of these were sent for Congo red staining and microscopy (Figure ​(Figure22). A single sample was sent for electron microscopy (Figure ​(Figure33). The biopsy findings confirmed the presence of cardiac amyloid. Figure 2 The right ventricular endocardial biopsy specimen after Congo red staining. The (a) “apple-green birefringence” and (b) light pink homogeneous deposits (arrow) are consistent with amyloid. Figure 3 Electron micrograph demonstrating the classic appearance of amyloid fibrils within the myocardium. In the setting of reversible pulmonary hypertension, liver transplantation was felt to be potentially curative for this type of amyloidosis (1, 2), and the patient was evaluated and accepted for a combined heart and liver transplantation. The patient tolerated posttransplant immunosuppression well with tacrolimus, mycophenolate, daclizumab, and corticosteroids. He was discharged to a rehabilitation center 2 weeks after surgery. Although he was doing well from a transplant standpoint, 2 months after surgery he died from complications unrelated to either his underlying illness or the transplant itself. His death appeared to be secondary to a pulmonary embolism while he was at a skilled nursing facility for rehabilitation. No autopsy was performed.

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