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CARDIAC DEFECTS:
DIAGNOSIS AND TREATMENT
Bruno MarinoDipartimento di Pediatria
Università di Roma “La Sapienza”[email protected]
16h Annual VCFSEF Meeting July 3-5 2009 Rome
J Med Genet 1997
34: 798-804 VCFSVCFSEuropean Collaborative Study 1997European Collaborative Study 1997
558 patients558 patients
VCFS: Conotruncal Heart Defects
- Tetralogy of Fallot
- Pulmonary Atresia
- Truncus Arteriosus
- Interrupted Aortic Arch
- Ventricular Septal Defect
- Aortic Arch Anomalies
L. VanMierop, Am J Cardiol 1986K. Momma, Am J Cardiol 1995B. Marino, Am J Cardiol 1996E. Goldmuntz, JACC 1998
W.B. Strong, J Pediatr 1968R.M. Freedom, Circulation 1972A. Kinouchi, Pediatr Jpn 1976D. Young, Am J Cardiol 1980
VCFS – Tetralogy of FallotVCFS – 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 1995B. Marino, Am J Cardiol 1996
VCFS – Pulmonary AtresiaVCFS – Pulmonary Atresia
• Hypoplasia/Discontinuity of
the Pulmonary Arteries
• Major Aorto-Pulmonary
Collateral
• Right/Double/Cervical
Aortic Arch
K. Momma, JACC 1996M.C. Digilio, Am J Cardiol 1996
M. Chessa, Heart 1998M. Hofbak, Heart 1998
VCFS – Truncus ArteriosusVCFS – Truncus Arteriosus
• Hypoplasia/Discontinuity of
the Pulmonary Arteries
• Stenosis of the Truncal Valve
• Right/Cervical/Interrupted
Aortic Arch
K. Momma, JACC 1997B. Marino, Prog Ped Cardiol 2002
VCFS – Interrupted Aortic ArchVCFS – 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 1999K. Momma Cardiol Young 1999
VCFS – Ventricular Septal DefectVCFS – Ventricular Septal Defect
• Perimembranous Septal Defect
• Subarterial Septal Defect
• Right//Double/Cervical Aortic
Arch
A. Toscano, Eur J Pediatr 2002D.B. McElhinney Pediatrics 2003
VCFSVCFS – – Additional Cardiovascular DefectsAdditional Cardiovascular Defects
• Aortic Arch
• Pulmonary Arteries
• Subclavian Arteries
• Aorto-Pulmonary Collaterals
• Infundibular Septum
• Pulmonary Valve
VCFSVCFS – – Diagnostic toolDiagnostic tool
2D, Echocardiography
Angiocardiography
MRI
Issues concerning extracardiac anomalies
Airways obstruction
Broncospasm
Vasomotor instability
Infections
Vascular ring K Momma, JACC 1996;27:198
Laringeal web McElhinney, IJPO 2002;66:23
M Ackarman, JTCVS 2001;122:169
Hypertension
Hypotension
V Shashi, AJMG 2003;1211:231
A Carotti, JTCVS 2003;126:1666
bacterial
fungal
VCFS – Cardiac Surgery
Hypocalcemia
Esophageal and GI anomalies
Renal defects
VCFS – Cardiac SurgeryVCFS – Cardiac Surgery
Specific Cardiac Patterns
Diagnosis: Echo, Angio MRI
Surgery: Specific
Techniques
Specific Extracardiac Anomalies
• Infections: antibacterial and antifungal prophylaxis (48h Teicoplanin + Amikacin)
• Immunology: transfusion with irradiated blood products
• Respiratory and Metabolic management
Specific Protocols of
Diagnosis and Treatment
0
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,4
,6
,8
1
Cum
. S
urv
ival
0 10 20 30 40 50 60Time
Kaplan-Meier Cum. Survival Plot for f/upCensor Variable: statusGrouping Variable: snd type
vactrel
other
none
del22q11dow n
p= NS
VCFS - Surgery for Tetralogy of Fallot
G. MichielonAnn Thorac Surg 2006
306 patients
Dev Disabil Res Rev 2008;14:35
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
VCFS – Surgery forPA+VSD
IAA
Higher perioperative risk?
IMPACT OF Del22q11, TRISOMY 21 AND OTHER GENETIC SYNDROMES ON SURGICAL OUTCOME OF CONOTRUNCAL HEART DEFECTS
Michielon G, Marino B, Oricchio G, Digilio MC, Iorio F, Filippelli S, Placidi S and Di Donato R.
JTCVS 2009; in press
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.
778 patients – 91 del22q11 (11%)
