Accelerating restrictive cardiomyopathy after liver transplantation in a patient with familial amyloidotic polyneuropathy: a case report

Abstract

IntroductionHereditary 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 5–15 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.Case presentationWe 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.ConclusionA 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.

A Novel Case of Idiopathic Restrictive Cardiomyopathy

“…RCM usually develops and progresses slowly, over a course of years. The rapid development of idiopathic RCM immediately following a liver transplant is unusual and has not been described heretofore in the past [4][5].…”

Currents Concepts on the Immunopathology of Amyloidosis

“…FAP has a widely variable geographical distribution, with the affected countries including Portugal, Japan, Scandinavian countries, and the Americas [60]. FAP has a very heterogeneous clinical presentation [61][62][63] with the age of onset varying between 20 and 70 years, and the peripheral nervous system is most commonly affected. The initial symptom is usually a sensory peripheral neuropathy in the lower limbs, with pain and temperature sensation being the most severely affected.…”