Amyloidosis Presentation PDF

Αμυλοείδωση Αλέξιος Αντωνόπουλος Καρδιολόγος, Ειδικός στην Καρδιαγγειακή Απεικόνιση (CT/CMR) Μονάδα Καρδιογενετικής Α’ Παν. Καρδιολογική Κλινική ΕΚΠΑ 21 Οκτωβρίου 2024  Amyloidosis subtypes...

Αμυλοείδωση Αλέξιος Αντωνόπουλος Καρδιολόγος, Ειδικός στην Καρδιαγγειακή Απεικόνιση (CT/CMR) Μονάδα Καρδιογενετικής Α’ Παν. Καρδιολογική Κλινική ΕΚΠΑ 21 Οκτωβρίου 2024  Amyloidosis subtypes Systemic amyloidosis TTR amyloidosis AL AA ATTRwt ATTRv Plasma dyscrasia Autoimmunity Elderly >75y Val30Met ↑λ chains Infections Val122Ile 3% of black patients Other rarer forms: ApoAI, ALECT2 etc. Garcia Pavia et al EHJ 2021 Unit of Inherited and Rare Cardiovascular Diseases, 1st Cardiology Dpt, National and Kapodistrian University of Athens Early disease onset Rapezzi et al EHJ 2013  Increasing awareness for cardiac amyloidosis NAC, UK Our experience (Greece) 30 amyloidosis patients (n) projection Annual 20 10 0 2020 2021 2022 2023 Year Ioannou et al. Circulation 2022;146:1657–1670 NKUA archive Unit of Inherited and Rare Cardiovascular Diseases, 1st Cardiology Dpt, National and Kapodistrian University of Athens  Prognosis of cardiac amyloidosis n=2,251 patients Kocher et al ESC Heart Failure 2020; 7: 3919–3928 Unit of Inherited and Rare Cardiovascular Diseases, 1st Cardiology Dpt, National and Kapodistrian University of Athens  Prognosis of ATTR-CM at a global level Antonopoulos AS et al Eur J Heart Fail. 2022 Sep;24(9):1677-1696 Unit of Inherited and Rare Cardiovascular Diseases, 1st Cardiology Dpt, National and Kapodistrian University of Athens  Which patient subgroups to suspect for cardiac amyloidosis? Unit of Inherited and Rare Cardiovascular Diseases, 1st Cardiology Dpt, National and Kapodistrian University WG of Athens Statement EHJ 2021 Position  Prevalence of cardiac amyloidosis in various population subgroups sample Studies Population type size (n) (n) Bone scintigraphy 21,841 4 (non-cardiac indications) Bilateral +LVH +tenosynovial Carpal tunnel syndrome +LVH amyloid 56,443 5 Chest pain unexplained 255 2 HCM phenotype 2,276 4 Antonopoulos AS et al Eur J Heart Fail. 2022 Sep;24(9):1677-1696 Unexplained LVH 886 2 Aortic stenosis 1,498 9 Unknown HF +LVH HFpEF Heart Failure HFpEF 190,696 14 HFpEF G89G HFrEF +LVH P64L V30M V122I A97 TTR mutations V122I S A97 T49A H88A V122I 1,869 8 L111M S T60A I107V +neuropathy +neuropathy Elderly post-mortem 56 1 Extra-cardiac amyloid 92 1 decomp.HF + ↑clinical suspicion Suspected CA 1,970 11 Restrictive/infiltrative HF 0 20 40 60 80 277,882 62 Cardiac Amyloidosis Prevalence (%) Unit of Inherited and Rare Cardiovascular Diseases, 1st Cardiology Dpt, National and Kapodistrian University of Athens  Where to look for ATTR HCM phenotype sample Studies Population type size (n) (n) 10% Bone scintigraphy 21,841 4 (non-cardiac indications) Bilateral +LVH +tenosynovial Carpal tunnel syndrome +LVH amyloid 56,443 5 Chest pain unexplained 255 2 Aortic stenosis HCM phenotype 2,276 4 Unexplained LVH 886 2 11% Aortic stenosis 1,498 9 Unknown HF HFpEF +LVH Heart Failure HFpEF HFpEF 190,696 14 +LVH G89G HFrEF P64L V30M V122I A97S T49A V122I TTR mutations V122I A97S H88A T60A 1,869 8 L111M I107V +neuropathy +neuropathy HFpEF + LVH Elderly post-mortem 56 1 Extra-cardiac amyloid 92 1 decomp.HF + ↑clinical suspicion 17% Suspected CA 1,970 11 Restrictive/infiltrative HF 0 20 40 60 80 277,882 62 Cardiac Amyloidosis Prevalence (%) Antonopoulos AS et al Eur J Heart Fail. 2022 Sep;24(9):1677-1696  Common manifestations of amyloidosis +LVH Unit of Inherited and Rare Cardiovascular Diseases, 1st Cardiology Dpt, National and Kapodistrian University of Athens Diagnostic modalities for ATTR-CM  ile Ele rof ctr oc l p young female very high ica QRSv ar n dio LBBB Cli stroke RBBB short PR gra m older HCM AVB pseudo-Q age age 65 Misdiagnosis as HCM Haematological malignancies A non-invasive diagnosis is feasible in most cases of ATTR-CM Treatments are now available to improve the outcome of ATTR-CM Garcia Pavia et al EHJ 2021