1. Cardiac Manifestation of DiGeorge Syndrome
Dr Patrick Noonan
Paediatric Cardiologist
Royal Hospital for Children, Glasgow

2. DiGeorge Syndrome
Named after Italian-American paediatric endocrinologist Angelo DiGeorge ( )
Born Angelo DiGiorgio but his primary teacher anglicised his name to DiGeorge
Many hobbies
Gardening, stamp collecting
First described syndrome in 1968
Genetic diagnosis confirmed 1981

3. DiGeorge syndrome Congenital heart defects Palatal anomalies
Typical facial features
Neonatal hypocalcemia
Immune deficits
Speech and learning disabilities
Multidisciplinary approach is essential in the evaluation and management of patients

4. DiGeorge syndrome Congenital heart defects Palatal anomalies
Typical facial features
Neonatal hypocalcemia
Immune deficits
Speech and learning disabilities
Multidisciplinary approach is essential in the evaluation and management of patients

5. Cardiac features of DiGeorge
Approx 1 in live births DGS
Approx 700,000 births/year in UK
children with DiGeorge
Heart defects are present in 75% of patients
Approx 1 in 150 live births cardiac defect

6. Cardiac features of DiGeorge
Toscano A et al. Eur J Pediatr. 2002;161(116-7)

7. British Heart Foundation
bhf.org.uk
Heart Health
Heart conditions
Congenital Heart Disease

10. Conotruncal abnormalities
“Conotruncal” defects
Conus - Heart segment between pumping chambers and outlet valves
Truncus - Fibrous segment between valve and forms great arteries

11. Normal Heart (Left ventricle) Body artery (Aorta) Lung artery
(Pulmonary artery)
Left pumping chamber
(Left ventricle)
Right pumping chamber
(Right ventricle)

12. Ventricular septal defect (VSD)

13. VSD Diagnosis Usual outcome Before birth (fetal) After birth
Murmur
Breathlessness
Poor feeding
Poor weight gain
Usual outcome
Tendency to close

14. VSD Medical management Diuretics High calorie feeds Surgery
Supplemental feeds (eg NG)
Surgery
High success rate
343 procedures
98.2% survival at 1 year
Essentially normal exercise ability

19. Tetralogy of Fallot Four features – 2 main Diagnosis VSD
Obstruction of blood flow
Right pumping chamber to pulmonary artery
Diagnosis
Before birth (fetal)
After birth
Murmur
Low oxygen levels

20. Tetralogy of Fallot
Obstructed outflow
(Right ventricle)
VSD

21. Tetralogy of Fallot Management Blue “spells”
Dependent on oxygen levels
Blue “spells”
Emergency
Medication
Palliation or definitive surgery
May need to improve lung blood flow (palliation)
Shunt
Stent to outflow tract

22. Tetralogy of Fallot
Shunt

23. Tetralogy of Fallot Surgery Good outcomes After 6 months
Close VSD and remove obstruction
Good outcomes
Very good survival rates
340 procedures
97.8% survival at 1 year

24. Tetralogy of Fallot Lifelong follow up Lung artery valve function
Near normal exercise ability
Lung artery valve function
Likely pulmonary valve replacement
Surgical
Catheter (keyhole)

28. Pulmonary atresia Atresia or closure of pulmonary valve
No connection from right ventricle to pulmonary artery
Duct
Diagnosis
Before birth (fetal)
After birth
Low oxygen levels

29. Pulmonary atresia
Duct
Blocked outflow
(Right ventricle)
VSD

30. Pulmonary atresia Management Protect blood flow to lungs
Maintain duct (prostin)
Shunt (surgery)
Stent (keyhole)
Complete repair
Dependent on lung artery growth
Close VSD
Conduit
Right pumping chamber to lung artery

31. Pulmonary atresia
Shunt

34. Pulmonary atresia Lifelong follow up Reduced exercise ability
Conduit function
Will require conduit replacement
Surgical
Catheter (keyhole)
Adult size conduit

35. Common arterial trunk Single artery from heart Surgical correction
Body and lung artery together
Surgical correction
First few weeks
Challenging surgery
Good surgical outcomes
Long term follow up like pulmonary atresia
Dependent on lung artery growth

36. Common arterial trunk Lung artery (Pulmonary artery) Body artery
(Aorta)
Common trunk
VSD

37. Summary Many complex cardiac conditions Positive outcomes
Earlier diagnosis
New imaging modalities
Counselling
Improvements in surgery
Improvements in pre- and post-operative care
Lifelong follow up
Majority

38. Questions?