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
Precursor
Syndrome or involved tissue
AL
immunoglobulin
light chain
Primary / Myeloma associated
ATTR
Transthyretin
Familial (PAF)
Senile (wilde type TTR)
AA
Serum AA
Secondary, reactive
A ß2 M
ß2 microglobulin
Hemodyalisis associated
AApo AII
AFib
Alys
Apolipoprotein AII
Fibrinogen  chain
Lysozyme
Familial
Familial
Familial
….
Aß
APrP
….
Aß protein precursor
Prion protein
….
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
IVS
RA
LA
LV
IVS
RA
LA
J Am Coll Cardiol 2005;46:1076-84
J Am Coll Cardiol. 2005;46:1076-84
Etiologic Diagnosis of Cardiac Amyloidosis
AL
TTR
immunostaining
Hereditary Wild type TTR
TTR
(senile)
-
+
+
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
AL
chemotherapy
heart transplantation
high dose chemotherapy
autologous stem cell
transplantation
Hereditary
ATTR
Liver transplantation
Heart-liver 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 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)
DIAGNOSI DI CARDIOMIOPATIA
AMILOIDOTICA
SIV Td >12 mm in assenza
di altre cause di ipertrofia ventricolare
ispessimento valvole A-V
“granular sparkling” del
setto interventricolare
ispessimento setto interatriale
+ almeno 2