Abstract 276 Heart transplantation in a patient with progressive ATTRv cardiac amyloidosis: a case report.

Abstract

Background

ATTR amyloidosis (ATTR-CM) is an underestimated cause of heart failure (HF). The natural course of the disease leads to progressive HF. ATTR-CM is classified based on the sequence of the TTR gene: either wild-type transthyretin amyloid CM (wtATTR-CM) without mutation or hereditary transthyretin amyloid CM (hATTR-CM). hATTR usually manifests with a mixed cardiac and neurological phenotype. However, the presence and extent of cardiac involvement is an important factor in outcome. Compared to other forms of heart failure, patients with cardiac amyloidosis often respond poorly to standard heart failure medications. In recent years, treatment has improved significantly with pharmaceutical therapies that slow or halt the progression of ATTR-CM. However, heart transplantation remains an ultimate treatment option, especially for selected young patients with rapidly progressive disease.

Case summary

We present the case of a 46-year-old patient with hATTR (Glu109Lys mutation) with primary cardiac involvement who underwent orthotopic bicaval heart transplantation four years after initial diagnosis, due to rapid progression despite specific hATTR pharmacotherapy with tafamidis and later inotersen. The heart transplantation was performed successfully. Postoperative complications such as acute renal failure were properly treated. Tafamidis was continued afterwards. More than 2 years later, the patient has only minor symptoms related to TTR amyloidosis. There is no evidence of graft rejection.

Discussion

We discuss here a treatment option for selected patients with highly progressive, refractory ATTR-CM. The importance of interdisciplinary treatment due to the systemic manifestation, which was crucial in our case, is outlined. We review the literature on heart transplantation in patients with TTR amyloidosis.

Clin Res Cardiol (2023). https://doi.org/10.1007/s00392-023-02180-w
Heart transplantation in a patient with progressive ATTRv cardiac amyloidosis: a case report.
G. Barzen¹, K. Hahn², F. Knebel³, J. Gaedeke⁴, D. Messroghli⁵, F. Schönrath⁶, V. Falk⁷, K. Stangl⁸, S. Spethmann⁸
¹Medizinische Poliklinik - Kardiologie, Pulmologie u. Angiologie, Charité - Universitätsmedizin Berlin, Berlin; ²Klinik für Neurologie Campus Mitte, Charité Universitätsmedizin Berlin, Berlin; ³Klinik für Innere Medizin II, Schwerpunkt Kardiologie, Sana Klinikum Lichtenberg, Berlin; ⁴Klinik für Nephrologie Campus Virchow Klinikum, Charité Universitätsmedizin Berlin, Berlin; ⁵Klinik für Innere Medizin - Kardiologie, Deutsches Herzzentrum Berlin, Berlin; ⁶Klinik für Herz-, Thorax- und Gefäßchirurgie, Deutsches Herzzentrum Berlin, Berlin; ⁷Klinik für kardiovaskuläre Chirurgie, Charité - Universitätsmedizin Berlin, Berlin; ⁸CC11: Med. Klinik m. S. Kardiologie und Angiologie, Charité - Universitätsmedizin Berlin, Berlin;
Abstract Background ATTR amyloidosis (ATTR-CM) is an underestimated cause of heart failure (HF). The natural course of the disease leads to progressive HF. ATTR-CM is classified based on the sequence of the TTR gene: either wild-type transthyretin amyloid CM (wtATTR-CM) without mutation or hereditary transthyretin amyloid CM (hATTR-CM). hATTR usually manifests with a mixed cardiac and neurological phenotype. However, the presence and extent of cardiac involvement is an important factor in outcome. Compared to other forms of heart failure, patients with cardiac amyloidosis often respond poorly to standard heart failure medications. In recent years, treatment has improved significantly with pharmaceutical therapies that slow or halt the progression of ATTR-CM. However, heart transplantation remains an ultimate treatment option, especially for selected young patients with rapidly progressive disease. Case summary We present the case of a 46-year-old patient with hATTR (Glu109Lys mutation) with primary cardiac involvement who underwent orthotopic bicaval heart transplantation four years after initial diagnosis, due to rapid progression despite specific hATTR pharmacotherapy with tafamidis and later inotersen. The heart transplantation was performed successfully. Postoperative complications such as acute renal failure were properly treated. Tafamidis was continued afterwards. More than 2 years later, the patient has only minor symptoms related to TTR amyloidosis. There is no evidence of graft rejection. Discussion We discuss here a treatment option for selected patients with highly progressive, refractory ATTR-CM. The importance of interdisciplinary treatment due to the systemic manifestation, which was crucial in our case, is outlined. We review the literature on heart transplantation in patients with TTR amyloidosis.
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