1. Surveillance for disease progression of transthyretin amyloidosis after heart transplantation in the era of novel disease modifying therapies
- Author
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Eleonore Baughan, Koji Takeda, Maryjane Farr, Jayant Raikhelkar, Justin Fried, Hannah Rosenblum, Thomas H. Brannagan, Mathew S. Maurer, Nir Uriel, Charles C. Marboe, Kevin J. Clerkin, Justin L. Grodin, and Jan M. Griffin
- Subjects
Male ,Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,medicine.medical_treatment ,Asymptomatic ,Quality of life ,Internal medicine ,Humans ,Medicine ,Retrospective Studies ,Heart transplantation ,Amyloid Neuropathies, Familial ,Transplantation ,biology ,business.industry ,Amyloidosis ,Middle Aged ,medicine.disease ,Transthyretin ,Cardiac amyloidosis ,Antirheumatic Agents ,Population Surveillance ,Cohort ,Disease Progression ,Quality of Life ,biology.protein ,Heart Transplantation ,Female ,Surgery ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,business ,Polyneuropathy ,Follow-Up Studies - Abstract
Introduction Heart Transplantation (HT) is a rational therapy for advanced transthyretin cardiac amyloidosis (ATTR-CA), but the impact of ongoing amyloid deposition is not well defined. We evaluated a cohort of patients who underwent HT for ATTR-CA to determine the incidence of de novo or progression of post-HT ATTR deposition. Methods All patients who were followed post-HT for ATTR-CA at our center were included. Baseline demographics and post-HT manifestations of TTR deposition were collected. All patients completed the Composite Autonomic Symptom Score (COMPASS-31 quantifies autonomic symptoms, with a higher score [0 – 100] indicating more severe autonomic dysfunction) and Polyneuropathy Disability Score (PND, range from 0 [asymptomatic] to IV [confined to wheelchair/bed]) questionnaires. Results Twelve patients (5 wild-type, 7 variant [6 p.Val142Ile, 1 p.Thr80Ala]) were included. Mean age at HT was 64.6 (SD: 4.8) years, 83.3% male, and 50% Black. At a median of 4.0 years (IQR 2.4, 5.9) post-HT, 8 patients had symptoms of ATTR deposition (5 with gastrointestinal involvement, 4 orthopedic and 4 neurologic), with 4 patients having ≥ 2 body systems involved. There were no patients with recurrent cardiac involvement. Median COMPASS-31 score was 17.3 (IQR 11.3, 23.5) at 3.9 years (IQR 2.4, 5.9) post-HT. Four patients had a PND score of stage 1 (sensory disturbance), 1 patient was stage 2 (impaired walking) and 1 patient stage 3b (required a walking aid). Conclusion More than 50% of patients had evidence of progressive or de novo ATTR deposition post-HT, impairing quality of life despite a well-functioning cardiac allograft. These observations highlight an unmet need to establish the role of formal surveillance and treatment of TTR using TTR disease-modifying therapies, which may maintain or improve quality of life post-HT for ATTR-CA.
- Published
- 2022
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