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

DiGeorge Syndrome Named after Italian-American paediatric endocrinologist Angelo DiGeorge (1921-2009) 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

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

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

Cardiac features of DiGeorge Approx 1 in 2000-4000 live births DGS Approx 700,000 births/year in UK 350-700 children with DiGeorge Heart defects are present in 75% of patients Approx 1 in 150 live births cardiac defect

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

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

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

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

Ventricular septal defect (VSD)

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

VSD Medical management Diuretics High calorie feeds Surgery Supplemental feeds (eg NG) Surgery High success rate 343 procedures 2013-14 98.2% survival at 1 year Essentially normal exercise ability

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

Tetralogy of Fallot Obstructed outflow (Right ventricle) VSD

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

Tetralogy of Fallot Shunt

Tetralogy of Fallot Surgery Good outcomes After 6 months Close VSD and remove obstruction Good outcomes Very good survival rates 340 procedures 2013-14 97.8% survival at 1 year

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)

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

Pulmonary atresia Duct Blocked outflow (Right ventricle) VSD

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

Pulmonary atresia Shunt

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

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

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

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

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