HEARTLINE Paolo Ciliberti HSM Genoa Cardiology Meeting Great Ormond Street Hospital for Children - London

Catene leggere Ig Transtiretina Lisozima Apolipoproteina

Terminology and Classification of Amyloidoses Amyloid protein AL ATTR AA A ß2M AApo AII AFib Alys …. Aß APrP Precursor immunoglobulin light chain Transthyretin Serum AA ß2 microglobulin Apolipoprotein AII Fibrinogen  chain Lysozyme …. Aß protein precursor Prion protein Syndrome or involved tissue Primary / Myeloma associated Familial (PAF) Senile (wilde type TTR) Secondary, reactive Hemodyalisis associated Familial …. Alzheimer’s desease, aging Spongioform encephalopathies

B C D J Am Coll Cardiol. 2005;46:1076-84

Pattern of myocardial uptake of 99mTc-DPD RV LV RV LV IVS IVS RA LA RA LA J Am Coll Cardiol 2005;46:1076-84

J Am Coll Cardiol. 2005;46:1076-84

Etiologic Diagnosis of Cardiac Amyloidosis Hereditary TTR Wild type TTR (senile) AL TTR immunostaining TTR DNA analysis Plasma cell dyscrasia + + - - + - + - -

…fibrinogen A or TTR mutations identified in 34 / 350 pts (9.7%) NEJM 2002;346:1786-91 …fibrinogen A or TTR mutations identified in 34 / 350 pts (9.7%) previously diagnosed as AL…

therapeutic implications of etiologic diagnosis heart transplantation Amyloidotic CMP: therapeutic implications of etiologic diagnosis chemotherapy AL heart transplantation high dose chemotherapy autologous stem cell transplantation Liver transplantation Hereditary ATTR Heart-liver transplantation

Overall survival of patients with the three main types of systemic amyloidosis (233 pts) Circulation 2009:120:1203-1212

(adjusted for multiorgan involvement) M.A.C.E. FREE SURVIVAL (adjusted for multiorgan involvement) Circulation 2009:120:1203-1212

Attività clinica GOSH ECHO LAB -Complex congenital heart defect Lead Consultant Jan Marek -Complex congenital heart defect -3D echo -Dyssyncrony assesment in pediatric population

Principali progetti di ricerca Screening familiare della CMPI in età pediatrica Modalità di esecuzione Timing - Costo-efficacia (GOSH-The Heart Hospital) Outcome clinico-strumentale dei pazienti con stenosi aortica critica neonatale avviati a strategia riparativa biventricolare (GOSH1970-2010- Deutsches Herzzentrum, Munich)

DIAGNOSI DI CARDIOMIOPATIA AMILOIDOTICA