Heart Transplantation for Homozygous Familial Transthyretin (TTR) V122I Cardiac Amyloidosis |
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| Authors: | I. M. Hamour H. J. Lachmann H. J. B. Goodman M. Petrou M. M. Burke P. N. Hawkins N. R. Banner |
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| Affiliation: | Cardiology and Transplantation, The Royal Brompton and Harefield NHS Trust, Harefield Hospital, Harefield, Middlesex UB9 6JH, UK;The National Amyloidosis Centre, Royal Free and University College Medical School, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK;and Histopathology Department, The Royal Brompton and Harefield NHS Trust Harefield Hospital, Harefield, Middlesex, UB9 6JH, UK |
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| Abstract: | Heart failure is the usual cause of death in patients with amyloid cardiomyopathy. The commonest form of hereditary cardiac amyloidosis is associated with the Val122Ile variant of transthyretin (TTR), which is carried by 3–4% of the African American population. Here, we report the outcome of the first cardiac transplantation in a patient with TTR V122I. A 59-year-old Caribbean man presented with biventricular failure. Other than previous bilateral carpel tunnel syndrome, he had been well and had no evidence of extracardiac amyloidosis. An endomyocardial biopsy demonstrated amyloid of TTR type. Sequencing of TTR gene indicated homozygosity for V122I. He underwent cardiac transplantation and 3 years later, remains well with no evidence of allograft or systemic amyloid deposition. |
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| Keywords: | Amyloidosis heart transplantation transthyretin TTR V122I |
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