Sandrigo Mangini et al. Bianca de Cássia Sabbion Robinson Poffo Sérgio Paiva Meira Filho … Márcio Dias de Almeida Fernando Bacal
Introduction
Cardiac amyloidosis is characterized by the presence of deposits of amyloid material between myocardial fibers, leading to impaired function. In 95% of cases, it can be secondary to excessive production of abnormal light chain immunoglobulins or changes in transthyretin (TTR), either due to mutation or wild type. TTR is a protein produced mainly by the liver, and it is responsible for transporting retinol and thyroid hormone. Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant genetic disease due to mutation in the TTR gene, and it has high morbidity and mortality, especially when there is cardiac involvement. More than 130 mutations have been described, and they determine phenotypes of neurological and/or cardiac predominance. Historically, liver transplantation was the standard treatment to reduce progression of FAP; in the presence of heart disease with advanced heart failure (HF), heart transplantation may be considered. Combined heart-liver transplant (CHLT), although uncommon, is a well-established indication for transthyretin amyloidosis (ATTR), with good outcomes; furthermore, the presence of the liver seems to minimize the risks of cellular or antibody-mediated rejection, which could be of interest for patients with high immunological risks, especially those with human leukocyte antigen (HLA) hypersensitivity.
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