Heart Transplantation in a 68-Year-Old Patient with Senile Systemic Amyloidosis

Abstract

Senile systemic amyloidosis (SSA) results from deposition, predominantly in the heart, of amyloid fibrils derived from wild-type transthyretin (T TR) molecules. Cardiac autopsies indicate that SSA progressively increases in subjects 80 years of age and older. However, only a few cases of patients with SSA and cardiac failure have been recognized by cardiac biopsies during life. Here, we report a case of heart transplantation in a 68-year-old male patient with SSA. After cardiopulmonary resuscitation in October 1998, he underwent complete evaluation. Myocardial biopsies revealed the presence of amyloid deposition. Immunohistochemical staining of the amyloid indicated T TR. Genomic DNA analysis of the T TR exons did not result in any identification of a mutation. In 2001, heart transplantation was performed because progressive heart failure occurred. At the 1-year follow-up, no amyloid deposits were found in the donor heart. At the 2-year follow-up, the patient's physical and mental health was excellent. We conclude that heart transplantation can be an effective treatment in progressive heart failure due to SSA.

Wild-type transthyretin significantly contributes to the formation of amyloid fibrils in familial amyloid polyneuropathy patients with amyloidogenic transthyretin Val30Met

“…The precise mechanism causing the predominance of wild-type TTR in amyloid fibrils in this disease remains unknown, but some factors associated with aging seem to have an impact on the facilitation of amyloidogenesis of wild-type TTR in FAP patients with ATTR Val30Met rather than wild-type TTR is more readily catabolized in amyloid fibrils of the younger patients. Moreover, although SSA, caused only by wild-type TTR deposition, has been recognized as a disease of individuals aged older than 80 years [21], several patients who developed SSA in their 60s have recently been reported [22][23][24]. In addition, we previously described one patient with no TTR gene mutation presenting with CTS due to TTR amyloidosis which started at 44 years of age [25].…”

Old men and thickened hearts

“…The definitive treatment for SSA is cardiac transplantation and, while the majority of patients are older and will not meet the selection criteria, at least three patients have been successfully transplanted for SSA. All were men, but unusually two were under 60 years of age6 and the third was 68 years of age 7…”

Recent Advances in the Diagnosis and Management of Cardiac Amyloidosis

“…The prognosis is significantly better in familial and SSA cardiac amyloidosis despite greater cardiac infiltration by imaging studies compared with AL [95]. In familial ATTR, prognosis is influenced by the type of mutation in the TTR gene; for example, in a large series of patients with the Ala60 variant, median survival from the time of diagnosis was 3.4 years [96]. Generally, median survival in SSA and familial ATTR ranges between 5 and 8 years [15,16,97].…”