Hereditary amyloidodis is a rare disease process with a propensity to cause polyneuropathies, autonomic dysfunction, and restrictive cardiomyopathy. It is transmitted in an autosomal dominant manner, with disease onset usually in the 20s-40s. The most common hereditary amyloidogenic protein, transthyretin, is synthesized in the liver and lies on Chromosome 18. Over 80 amyloidogenic transthyretin mutations have been described, the majority of which are neuropathic and hence the common name, Familial Amyloidotic Polyneuropathy. Until 1990, the disease was intractable with a 5├óÔé¼ÔÇ£15 year survival after diagnosis. The prognosis changed after the implementation of orthotropic liver transplantation as a treatment strategy which halts the synthesis of amyloidogenic transthyretin. This has now has been performed over 1300 times in 67 centers.
We describe the case of a man of Irish ancestry with Familial Amyloidotic Polyneuropathy and no clinical history of cardiac involvement. Shortly after orthotropic liver transplantation, he developed congestive heart failure. He was subsequently diagnosed with an accelerating post-transplant restrictive cardiomyopathy due to amyloid infiltration.
A liver transplant induced cardiomyopathy in Familial Amyloidotic Polyneuropathy can be observed in patients without any history of cardiac symptoms. All patients with Familial Amyloidotic Polyneuropathy should be followed after transplantation to assess for a deterioration in cardiac function.
Familial Amyloid Polyneuropathy (FAP) is a disease process that has been described to affect the cardiovascular system. Clinical manifestations include hypotension, conduction disturbances, and most problematic, restrictive cardiomyopathies . The majority of those with FAP have bothersome neuropathies, and are spared significant cardiovascular complications. Orthotropic liver transplantation (OLT) has been shown to stabilize and at times improve the neuropathic symptoms. Based on the pathogenesis of FAP, if OLT is performed prior to any of the clinical manifestations of cardiac amyloidosis, the likelihood of a patient succumbing to an amyloid cardiomyopathy should be significantly decreased.
A 61 year old man presented with increasing dyspnea on exertion, ascites, and lower extremity edema. His medical history was remarkable for FAP which initially manifested ten years earlier as nausea and vomiting due to gastroparesis. In addition, he developed a painful peripheral neuropathy approximately two years later. Due to his progressive symptoms, he underwent OLT at another institution in August, 2006. Prior to his transplant, he had no cardiovascular complaints. His preoperative evaluation included a 2-dimensional echocardiogram. He did not have a cardiac catheterization. Approximately 2 months after his transplant, he began feeling dyspneic with mild to moderate activity. Shortly thereafter, he began to develop increasing abdominal girth and lower extremity edema. He presented to our institution in February, 2007 with further progression of these symptoms. His current medications included prednisone, tacrolimus, gabapentin, clotrimazole, valcyclovir, and pentamadine. His family history was significant for a father dying in his 50s due to gastrointestinal complications from FAP. On physical examination his heart rate was 100 with a blood pressure of 110/60 mmHg. He had an oxygen saturation of 97% while receiving oxygen at 4 L/min by nasal canula. He had no evidence of jaundice. He had crackles at the bases of his lungs bilaterally. His cardiovascular exam was remarkable for 10 cm of jugular venous distension, a regular rhythm with no murmurs, and an S4 gallop at the apex. His abdomen was mildly distended with shifting dullness to percussion and a liver edge 4 cm below the right costal margin. He had 2 + bilateral lower extremity edema.
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