Trends in diagnosis, referral, red flag onset, patient profiles and natural outcome of de novo cardiac amyloidosis and their multidisciplinary implications

Debonnaire, Philippe; Claeys, Mathias; De Smet, Maarten; Trenson, Sander; Lycke, Michelle; Demeester, Catherine; Van Droogenbroeck, Jan; De Vriese, An S.; Verhoeven, Kristof; Vantomme, Nikolaas; Van Meirhaeghe, Jan; Willandt, Barbara; Lambert, Margareta; de Paepe, Pascale; Delanote, Joost; De Geeter, Frank; Tavernier, Rene

doi:10.6084/m9.figshare.16699080.v1

tacd_a_1976450_sm8264.docx (22.37 kB)

Trends in diagnosis, referral, red flag onset, patient profiles and natural outcome of de novo cardiac amyloidosis and their multidisciplinary implications

journal contribution

posted on 2021-09-29, 13:22 authored by Philippe Debonnaire, Mathias Claeys, Maarten De Smet, Sander Trenson, Michelle Lycke, Catherine Demeester, Jan Van Droogenbroeck, An S. De Vriese, Kristof Verhoeven, Nikolaas Vantomme, Jan Van Meirhaeghe, Barbara Willandt, Margareta Lambert, Pascale de Paepe, Joost Delanote, Frank De Geeter, Rene Tavernier

Cardiac amyloidosis (CA) is often overlooked or misdiagnosed. Effects of growing disease awareness, diagnostic ameliorations and novel treatment options on CA diagnosis and management are scarcely reported.

To report trends in diagnosis, referral routes, clinical presentation, early onset diagnostic red flags and outcome in de novo CA subjects.

An unselected cohort of 139 de novo CA patients over an 8-year period in a tertiary referral hospital was recruited.

Transthyretin (ATTR, 82%, n = 114) was the most common CA form; Light-chain (AL, 15%, n = 21) and secondary (AA, 3%, n = 4) are less prevalent. Increased awareness over time led to a marked ATTR diagnostic surge, steep non-invasive diagnostic approach increment and increased nuclear medicine and external cardiologist referrals (all p < 0.001). A total of 41% (n = 57/139) of patients were referred by non-cardiology specialist disciplines. Specific referral to rule out CA (24–36%) and diagnostic time lag from symptom onset (9 ± 12 to 8 ± 14 months), however, did not improve (all p > 0.050). Multiple early red flag events preceded CA diagnose several years in ATTR: Left ventricular hypertrophy (LVH, 60%, 4.9 ± 4.3 y), heart failure (54%, 2.5 ± 3.5 y), atrial fibrillation (47%, 5.9 ± 6.7 y), bilateral carpal tunnel syndrome (43%, 9.5 ± 5.7 y) and spinal stenosis (40%, 7.4 ± 6.5 y). LVH ≥ 12 mm was absent in 11% ATTR (n = 13/114) and 5% AL (n = 1/21) patients. Hypertension was common in both ATTR (n = 70/114, 62%) and AL (n = 10/21, 48%). 56% (n = 78/139) of CA presented with heart failure. Cumulative 1 and 5-year mortality of 10%/66%, 40%/52% and 75%/75% for ATTR, AL, and AA, respectively, remains high.

Although CA diagnostic uptake and referral improve, specialist-specific disease and diagnostic red flag ignorance result in non-timely diagnosis and unfavourable outcome.