CARDIAC DEFECTS: DIAGNOSIS AND TREATMENT Bruno Marino Dipartimento di Pediatria Università di Roma “La Sapienza” 16 h Annual VCFSEF Meeting July Rome

J Med Genet : VCFS European Collaborative Study 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 1986 K. Momma, Am J Cardiol 1995 B. Marino, Am J Cardiol 1996 E. Goldmuntz, JACC 1998 W.B. Strong, J Pediatr 1968 R.M. Freedom, Circulation 1972 A.Kinouchi, Pediatr Jpn 1976 D. Young, Am J Cardiol 1980

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

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 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

VCFS - Surgery for Tetralogy of Fallot G. Michielon Ann Thorac Surg 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 for PA+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%)