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HEARTLINE HSM Genoa Cardiology Meeting Paolo Ciliberti Great Ormond Street Hospital for Children - London. Catene leggere Ig. Transtiretina. Lisozima. Apolipoproteina. Terminology and Classification of Amyloidoses. Amyloid protein AL ATTR AA A ß 2 M AApo AII AFib Alys …. A ß
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HEARTLINE HSM Genoa Cardiology Meeting Paolo Ciliberti 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 Familial Familial …. Alzheimer’s desease, aging Spongioform encephalopathies
C D B J Am Coll Cardiol. 2005;46:1076-84
Pattern of myocardial uptake of 99mTc-DPD RV LV LV RV IVS IVS RA RA LA LA 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 + + - - - + + - -
NEJM 2002;346:1786-91 …fibrinogen A or TTR mutations identified in 34 / 350 pts (9.7%) previously diagnosed as AL…
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
Overallsurvival of patients with the three main types of systemic amyloidosis (233 pts) Circulation 2009:120:1203-1212
M.A.C.E. FREE SURVIVAL (adjusted for multiorgan involvement) Circulation 2009:120:1203-1212
Attività clinica • GOSH ECHO LAB 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)