HEARTLINE Paolo Ciliberti HSM Genoa Cardiology Meeting

Presentazione sul tema: "HEARTLINE Paolo Ciliberti HSM Genoa Cardiology Meeting"— Transcript della presentazione:

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

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3 Catene leggere Ig Transtiretina Lisozima Apolipoproteina

4 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

5 B C D J Am Coll Cardiol. 2005;46:

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

7 J Am Coll Cardiol. 2005;46:

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

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

10 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

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

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

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

16 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 (GOSH Deutsches Herzzentrum, Munich)

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18 DIAGNOSI DI CARDIOMIOPATIA AMILOIDOTICA

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