Download VCFS – Interrupted Aortic Arch

16h Annual VCFSEF Meeting
July 3-5 2009 Rome
CARDIAC DEFECTS:
DIAGNOSIS AND TREATMENT
Bruno Marino
Dipartimento di Pediatria
Università di Roma “La Sapienza”
[email protected]
J Med Genet 1997
34: 798-804
VCFS
European Collaborative Study 1997
558 patients
VCFS: Conotruncal Heart Defects
- Tetralogy of Fallot
- Pulmonary Atresia
- Ventricular Septal Defect
- Truncus Arteriosus
- Aortic Arch Anomalies
- Interrupted Aortic Arch
W.B. Strong, J Pediatr 1968
R.M. Freedom, Circulation 1972
A. Kinouchi, Pediatr Jpn 1976
D. Young, Am J Cardiol 1980
L. VanMierop, Am J Cardiol 1986
K. Momma, Am J Cardiol 1995
B. Marino, Am J Cardiol 1996
E. Goldmuntz, JACC 1998
VCFS – Tetralogy of Fallot
• Absent Pulmonary Valve
• Hypoplasia/Absence of the
Infundibular Septum
• Hypoplasia/Discontinuity of the
Pulmonary Arteries
• Aorto-Pulmonary Collateral
• Right/Double/Cervical Aortic Arch
K. Momma, Am J Cardiol 1995
B. Marino, Am J Cardiol 1996
VCFS – Pulmonary Atresia
• Hypoplasia/Discontinuity of
the Pulmonary Arteries
• Major Aorto-Pulmonary
Collateral
• Right/Double/Cervical
Aortic Arch
K. Momma, JACC 1996
M.C. Digilio, Am J Cardiol 1996
M. Chessa, Heart 1998
M. Hofbak, Heart 1998
VCFS – Truncus Arteriosus
• Hypoplasia/Discontinuity of
the Pulmonary Arteries
• Stenosis of the Truncal Valve
• Right/Cervical/Interrupted
Aortic Arch
K. Momma, JACC 1997
B. Marino, Prog Ped Cardiol 2002
VCFS – Interrupted Aortic Arch
• Type B
(Between left carotid and left
subclavian arteries)
• Right/Cervical Aortic Arch
• Hypoplasia/Absence of the
Infundibular Septum
B. Marino, Am J Cardiol 1999
K. Momma Cardiol Young 1999
VCFS – Ventricular Septal Defect
• Perimembranous Septal Defect
• Subarterial Septal Defect
• Right//Double/Cervical Aortic
Arch
A. Toscano, Eur J Pediatr 2002
D.B. McElhinney Pediatrics 2003
VCFS – Additional Cardiovascular Defects
• Aortic Arch
• Pulmonary Arteries
• Subclavian Arteries
• Aorto-Pulmonary Collaterals
• Infundibular Septum
• Pulmonary Valve
VCFS – Diagnostic tool
2D, Echocardiography
Angiocardiography
MRI
VCFS – Cardiac Surgery
Issues concerning extracardiac anomalies
Airways obstruction
Vascular ring
K Momma, JACC 1996;27:198
Laringeal web
McElhinney, IJPO 2002;66:23
Broncospasm
Hypertension
M Ackarman, JTCVS 2001;122:169
Vasomotor instability
bacterial
Infections
V Shashi, AJMG 2003;1211:231
Hypotension
A Carotti, JTCVS 2003;126:1666
fungal
Esophageal and GI anomalies
Hypocalcemia
Renal defects
VCFS – Cardiac Surgery
Specific Cardiac Patterns
Specific Extracardiac Anomalies
Diagnosis: Echo, Angio
MRI
• Infections: antibacterial and
antifungal prophylaxis
(48h Teicoplanin + Amikacin)
Surgery:
Specific
Techniques
• Immunology: transfusion with
irradiated blood products
• Respiratory and Metabolic
management
Specific Protocols of
Diagnosis and Treatment
VCFS - Surgery for Tetralogy of Fallot
306 patients
Kaplan-Me ie r Cum . Survival Plot for f/up
Ce ns or Variable : s tatus
Grouping Variable : s nd type
dow n
del22q11
1
none
Cum. Survival
,8
other
,6
,4
,2
vactrel
p= NS
0
0
10
20
30
Time
40
50
60Michielon
G.
Ann Thorac Surg 2006
VCFS – Surgery for
PA+VSD
IAA
Higher perioperative risk?
Influence of chromosome 22q11.2 microdeletion on surgical outcome
after treatment of tetralogy of Fallot with pulmonary atresia
Carotti A. Marino B. Di Donato RM.
JTCVS 2003;126:1666
Dev Disabil Res Rev 2008;14:35
IMPACT OF Del22q11, TRISOMY 21 AND OTHER GENETIC SYNDROMES ON
SURGICAL OUTCOME OF CONOTRUNCAL HEART DEFECTS
JTCVS 2009; in press
Michielon G, Marino B, Oricchio G, Digilio MC, Iorio F, Filippelli S, Placidi S and Di Donato R.
778 patients – 91 del22q11 (11%)
1. In all patients with CTHD
del22q11 is not a risk factor for
death after surgical repair.
2. Postoperative long-term
survival in patients with
del22q11 is comparable with
non-syndromic CTHDs.