Baby J, a 3-week-old infant, was admitted to Ward 5A since birth due to severe central cyanosis caused by several congenital heart problems. Soon after birth, he suffered from respiratory distress, where his initial SaO2 was only about 70%. He was resuscitated and given 5 nanograms/kg/min of Prostin (Prostaglandin E2). On appearance, he was dusky-looking and his peripheries were cold and cyanosed. He was started on biphasic continuous positive airway pressure (CPAP) via an apnoea mask and also given positive end-expiratory pressure (PEEP) as an adjunct. His CPAP was delivered using nasal cannula the following day after his SaO2 increased to 80% and he remained on CPAP for the first 5 days after birth, which subsequently was weaned off. Antenatal scans found pulmonary atresia, overriding aorta and ventricular septal defect (VSD). Postnatally, cardiac catheterisation confirmed the antenatal findings with extra major aortopulmonary collateral arteries (MAPCAs).
He tolerated feeding via TPN and was given 6ml of EBM (expressed breast milk) at intervals of 2 hourly. Bottle feeding was attempted on 28/09/09 and he tolerated the feedings well. Recently, the feedings increased to 44ml 2 hourly. Baby J passed urine normally and his stools were of normal consistency.
Past Medical and Surgical History
Baby J underwent a cardiac surgery on 1/10/09 through a median sternotomy and a Melbourne shunt was inserted to create an aortopulmonary connection.
He was also diagnosed with Alagilles syndrome (an autosomal dominant inherited disorder affecting the heart, liver, spine, kidney and central nervous system).
Family History
Baby Js father was diagnosed with Alagilles syndrome as a child. He has congenital spinal abnormalities, cardiac defects (atrial septal defect, ASD, pulmonary stenosis and right ventricular dysfunction).
Baby Js mother suffered from depression for about 3 years now. She also has asthma and a high BMI of 40. During pregnancy, Baby Js mother was on anti-depressant (Fluoxetine 20 mg OD) and inhalers (Becctide and Ventolin).
Drug History
NKDA
Medication
Dosage
Frequency
Aspirin
15mg
OD
Frusemide
3mg
BD
Spironolactone
3mg
BD
Social History
Baby J is the 3rd child in the family. He has one brother and 2 sisters. His brother was also diagnosed with Alagilles and suffers from cardiac anomaly.
Baby Js mother is a non-smoker and she did not drink alcohol while conceiving him.
Systemic Enquiry
Neurological
None to note.
Cardiovascular
See above.
Respiratory
Cyanotic.
Gastrointestinal
None to note. Opened bowel normally with normal stools.
Genitourinary
None to note. Passed urine normally.
Haematological
None to note. No fevers or rigors
Musculoskeletal
None to note.
Endocrine
None to note
PHYSICAL EXAMINATION
General Inspection
Not distressed or in pain.
Alert and non-lethargic.
Apyrexial (Temperature 37.1 0C)
Mild bluish discolouration of lips and tongue. SaO2 83% on room air.
Heart rate: 156 bpm
RR: 48/min
Anterior fontanelle normal.
Cardiovascular Examination
Examination
Findings
BP
Pulse rate
78/ 45 mmHg
156 bpm
(regular, normal volume, character)
No radial-radial delay or radio-femoral delay.
Normal radial/ brachial/ femoral pulses.
Normal carotid pulses.
Inspection
Hands and nails
Face and tongue
Precordium
Ankle
Non-cyanotic fingers. CRT <2s
No finger clubbing/ splinter haemorrhages.
Non-pallor palmar creases.
Deep-set eyes, prominent forehead (features of Alagilles syndrome)
Non-pallor conjunctiva
Mild central cyanosis (bluish tinge to tongue)
Median stenotomy scar.
No peripheral oedema (rarely seen in children)
Palpation
Central trachea.
No thrills or left parasternal heave.
Auscultation
HS=I+Single II (muscular pulmonary atresia) + Ejection click (due to high flow across aortic valve) and continuous murmur.
Respiratory Examination
Examination
Findings
Inspection
Hands
Mouth
Eyes
Chest wall
Not breathless or in distress. Breathing at ease.
No peripheral cyanosis.
No finger clubbing.
Mild bluish tinge to tongue.
No jaundice and non-pallor conjunctiva.
Normal AP diameter.
Symmetrical movement of chest wall with respiration
No accessory muscles used in respiration.
Trachea
Central, no tracheal tug
Percussion
Generally, resonant to percussion.
Auscultation
Vesicular breath sounds.
Normal air entry. No wheeze or added sounds.
Summary of Problems
Baby J suffered from severe cyanosis immediately post-delivery due to closure of ductus arteriosus. To maintain the patency of the duct, he was given prostaglandin E2. However, this was just a temporary measure to maintain a duct-dependent pulmonary circulation. A more definitive treatment for Baby J was to establish a direct connection between the aorta and the pulmonary artery by a shunt in order to promote growth of central pulmonary artery.
Differential Diagnosis
*Most likely differential for Baby J bolded.
Differentials of cyanosis:-
Primary pulmonary disease
Cyanotic congenital heart disease
Reduced or duct-dependent pulmonary circulation
Tetralogy of Fallot
Pulmonary atresia
Tricuspid atresia
Abnormal mixing
Transposition of great arteries
Total anomalous pulmonary venous drainage (all draining into right atrium)
Single truncus arteriosus
Persistent pulmonary hypertension due to persistent fetal circulation
Anaemia
Asphyxia
Sepsis
Metabolic disorder
Methaemoglobinaemia due to haemolytic anaemia
Management Plan
Initial management:-
Respiratory distress at birth Resuscitation, give CPAP and PEEP to maintain oxygenation to lungs, immediate Prostin (5ng/kg/min)
Check breathing
Maintain circulation IV fluids
Routine bloods and ABG
Continuous monitoring oxygen saturation and vitals
Cardiology review- echo and CXR
Echo findings consistent with Fallot tetralogy with MAPCAs
CXR found cardiomegaly
Feeding via TPN (6ml/kg/2 hourly)
Further management:-
Cardiac catherisation to assess for cardiac anomaly
Cardiology experts advised surgery to establish connection between aorta and pulmonary artery to increase pulmonary blood flow.
Melbourne shunt was inserted via median sternotomy on 1/10/09.
Echo post-op showed good flow in small pulmonary arteries and patent central shunt.
Continue monitoring oxygen saturation aim to keep above 75%
Perform ECG
Monitor temperature post-op If pyrexial, culture blood and give vancomycin and gentamicin.
Start on aspirin, frusemide, spironolactone and paracetamol PRN.
Increase feed to 150ml/kg/day via bottle
Relevant Investigations and Results: Bloods results (2/10/09) after cardiac surgery
FBC
Hb
Platelets
WBC
15.2
230
10.5
U&E
Na+
K+
Cl
Urea
Creatinine
142
4.7
100
3.9
77
LFTs
Alk P
AST
ALT
Pro
Alb
274
29
31
55
27
CRP
100
Echo
Results on 18/09/09
Pulmonary atresia, MAPCAs, VSD, overriding aorta.
Results on 2/10/09
Patent central shunt with good flow to small pulmonary arteries.
MAPCAs flow demonstrated from joined aortopulmary branches.
X-ray of whole spine
Single AP view of thoracolumbar spine no abnormality found.
Reflective Commentary: Tetralogy of Fallot
Tetralogy of Fallot (TOF) is the commonest cause of cyanotic congenital heart disease. It has 4 cardinal anatomical anomalies:- [1]
Large outlet VSD
Overriding aorta with respect to ventricular septum
Right ventricular outflow obstruction (infundibular and valvular pulmonary stenosis)
Right ventricular hypertrophy
Epidemiology
TOF affects 3-6 infants in every 10, 000 births. [1]
Aetiology [4]
The aetiology is unknown, but evidence suggests a multifactorial cause. Antenatal risk factors are:-
Maternal rubella (or other viral infections during pregnancy)
Poor antenatal nutrition
Maternal alcohol use
Maternal age > 40 years
Diabetes
Children with Down syndrome have a higher risk of TOF.
Presentation [4]
Symptoms
Very few infants present with severe cyanosis in the first few days of life with duct-dependent pulmonary circulation.
Most infants are diagnosed by murmur at the age of 1-2 months.
Feeding difficulty and failure to thrive.
Tet spells episodes of bluish pale skin during crying or feeding.
Squatting is classical of infants with TOF.
Exertional dyspnoea usually worsens with age.
Physical examination
