HEARTLINE HSM Genoa Cardiology Meeting Paolo Ciliberti

HEARTLINE HSM Genoa Cardiology Meeting

Paolo CilibertiGreat Ormond Street Hospital for Children - London

Apolipoproteina

Catene leggere Ig

Lisozima

Transtiretina

Terminology and Classification of Amyloidoses

Amyloid protein

AL

ATTR

AA

A ß2M

AApo AIIAFibAlys

….AßAPrP

Syndrome or involved tissue

Primary / Myeloma associated

Familial (PAF) Senile (wilde type TTR)

Secondary, reactive

Hemodyalisis associated

FamilialFamilialFamilial

….Alzheimer’s desease, agingSpongioform encephalopathies

Precursor

immunoglobulinlight chain

Transthyretin

Serum AA

ß2 microglobulin

Apolipoprotein AIIFibrinogen chainLysozyme

….Aß protein precursorPrion protein

B C D

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

LVLV

RVRV

RARALA LA

IVS IVS

Pattern of myocardial uptake of 99mTc-DPD

J Am Coll Cardiol 2005;46:1076-84

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

TTR immunostaining

TTR DNA analysis

Plasma cell dyscrasia

AL Hereditary TTR

Wild type TTR

(senile)

-

- -

-+

+

-

+ +

Etiologic Diagnosis of Cardiac Amyloidosis

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

Heart-liver transplantation

high dose chemotherapy

autologous stem cell transplantation

Hereditary

ATTR

Liver transplantation

chemotherapy

AL

heart transplantation

Overall survival 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 LABLead Consultant Jan Marek

-Complex congenital heart defect

-3D echo

-Dyssyncrony assesment in pediatric population

• 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 neonataleavviati a strategia riparativa biventricolare(GOSH1970-2010- Deutsches

Herzzentrum, Munich)

Principali progetti di ricerca

DIAGNOSI DI CARDIOMIOPATIA AMILOIDOTICA