Case study of cyanotic congenital heart disease

Case reckon of cya nonic congenital fancy disease tike J, a 3-week-old infant, was admitted to Ward 5A since stick out due to severe central cyanosis ca utilise by several congenital meaning problems. Soon after(prenominal) birth, he suffered from respiratory distress, where his initial SaO2 was only astir(predicate) 70%. He was resuscitated and given 5 nanograms/kg/ arcminute of Prostin (Prostaglandin E2). On appearance, he was dusky-looking and his peripheries were cold and cyanosed. He was started on biphasic sustained affirmative airway hale (CPAP) via an apnoea mask and too given positive end-expiratory pressure (PEEP) as an adjunct. His CPAP was delivered using nasal cannula the following day after his SaO2 change magnitude 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 corrobo consec rate the antenatal findings with extra major(ip) aortopulmonary collateral arteries (MAPCAs).He tolerated reaching 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 join ond to 44ml 2 hourly. Baby J passed urine typically and his stools were of figure consistency.Past Medical and Surgical historyBaby J underwent a cardiac surgery on 1/10/09 by means of a median sternotomy and a Melbourne electrical bypass was inserted to create an aortopulmonary connection.He was too diagnosed with Alagilles syndrome (an autosomal dominant inherited rowdyism affecting the heart, liver, spine, kidney and central nervous system).Family HistoryBaby Js father was diagnosed with Alagilles syndrome as a nestling. He has congenital spinal anaesthesia abnormalities, cardiac defects (atrial septal defect, ASD, pulmonary stenosis and counterbalance ventricular dysfunc tion).Baby Js mother suffered from depression for about 3 years now. She a bid has bronchial 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 HistoryNKDAMedicationDos eonFrequencyAspirin15mgODFrusemide3mgBDSpironolactone3mgBDSocial HistoryBaby 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 alcoholic drink while conceiving him.Systemic EnquiryNeurologicalNone to note.cardiovascular watch over above.respiratoryCyanotic.GastrointestinalNone to note. Opened bowel normally with normal stools.GenitourinaryNone to note. Passed urine normally.HaematologicalNone to note. No fevers or rigorsMusculoskeletalNone to note.EndocrineNone to notePHYSICAL trialGeneral InspectionNot distressed or in pain. jolly and non-lethargic.Apyrexial (Temperatu re 37.1 0C)Mild bluish discolouration of lips and expression. SaO2 83% on room air. kindling rate 156 metronome markingRR 48/minAnterior fontanelle normal.Cardiovascular ExaminationExaminationFindingsBPPulse rate78/ 45 mmHg156 bpm(regular, normal volume, character)No radial-radial delay or radio-femoral delay. convention radial/ brachial/ femoral pulses.Normal carotid pulses.InspectionHands and nailsFace and tonguePrecordiumAnkleNon-cyanotic fingers. CRT No finger clubbing/ splinter haemorrh elds.Non-pallor palmar creases.Deep-set eyes, prominent forehead (features of Alagilles syndrome)Non-pallor conjunctivaMild central cyanosis (bluish relate to tongue) average stenotomy scar.No peripheral oedema (rargonly seen in children)PalpationCentral trachea.No bitchs or left parasternal heave.AuscultationHS=I+Single II (muscular pulmonary atresia) + exclusion click (due to high fall down across aortic valve) and continuous murmur.Respiratory ExaminationExaminationFindingsInspectionH andsMouthEyes bosom fenceNot 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 respirationNo accessory muscles used in respiration.TracheaCentral, no tracheal tugPercussionGenerally, resonant to percussion.AuscultationVesicular breath sounds.Normal air entry. No wheeze or added sounds.Summary of ProblemsBaby J suffered from severe cyanosis immediately post-delivery due to closure of ductus arteriosus. To verify 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 authoritative treatment for Baby J was to establish a direct connection between the aorta and the pulmonary arteria by a shunt in order to publicise growing of central pulmonary arterial blood vessel.Differential Diagnosis*Most likely derived function f or Baby J bolded.Differentials of cyanosis-Primary pulmonary diseaseCyanotic congenital heart diseaseReduced or duct-dependent pulmonary circulationTetralogy of Fallot pulmonic atresiaTricuspid atresia antidromic mixingTransposition of great arteriesTotal anomalous pulmonary venous drainage (all draining into right atrium)Single truncus arteriosusPersistent pulmonary high subscriber line pressure due to persistent fetal circulationAnaemiaAsphyxiaSepsisMetabolic disorderMethaemoglobinaemia due to haemolytic anaemiaManagement PlanInitial vigilance-Respiratory distress at birth Resuscitation, give CPAP and PEEP to maintain type Oation to lungs, immediate Prostin (5ng/kg/min)Check breathingMaintain circulation IV fluids office bloods and ABGContinuous monitoring oxygen saturation and vitalsCardiology review- echo and CXR restate findings consistent with Fallot tetralogy with MAPCAsCXR found cardiomegalyFeeding via TPN (6ml/kg/2 hourly)Further management-Cardiac catherisation to as sess for cardiac anomalyCardiology experts advise 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 unmingled central shunt.Continue monitoring oxygen saturation aim to check above 75%Perform electrocardiogramMonitor 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 bottleRelevant Investigations and Results Bloods results (2/10/09) after cardiac surgeryFBCHbPlateletsWBC15.223010.5UENa+K+Cl ureaCreatinine1424.71003.977LFTsAlk PASTALTProAlb27429315527CRP100EchoResults on 18/09/09Pulmonary atresia, MAPCAs, VSD, overriding aorta.Results on 2/10/09Patent central shunt with good flow to small pulmonary arteries.MAPCAs flow demonstrated from get together aortopulmary branches.X-ray o f whole spineSingle AP view of thoracolumbar spine no abnormality found.Reflective Commentary Tetralogy of FallotTetralogy of Fallot (TOF) is the commonest cause of cyanotic congenital heart disease. It has 4 cardinal anatomical anomalies- 1Large outlet VSDOverriding aorta with respect to ventricular septum unspoiled ventricular outflow obstruction (infundibular and valvular pulmonary stenosis)Right ventricular hypertrophyEpidemiologyTOF affects 3-6 infants in every 10, 000 births. 1Aetiology 4The aetiology is unknown, except evidence suggests a multifactorial cause. Antenatal risk factors are- maternalistic rubella (or other viral infections during pregnancy)Poor antenatal nutrition motherly alcohol useMaternal age 40 yearsDiabetesChildren with take syndrome have a higher risk of TOF.Presentation 4SymptomsVery a a couple of(prenominal)(prenominal) infants present with severe cyanosis in the first few days of manner with duct-dependent pulmonary circulation.Most infants are d iagnosed by murmur at the age of 1-2 months.Feeding difficulty and failure to thrive.Tet spells episodes of bluish pale skin during yell or feeding.Squatting is classical of infants with TOF.Exertional dyspnoea usually worsens with age.Physical mental testingSmaller than expected for age. Peripheral cyanosis is normally found at birth, and after 3-6 months, finger clubbing may develop.Cardiac examination-A thrill at left sternal border.Ejection systolic murmur comprehend over the pulmonic area and the left sternal border. In babies with aortopulmonary collaterals, continuous murmurs may be detectedThe S2is usually single.DiagnosisDiagnosis is through history and clinical examination, supported by chest x-ray and ECG, and confirmed by echocardiography.BloodsHaemoglobin and haematocrit are usually increased in relation to the degree of cyanosis.The arterial oxygen saturation varies from 65-70%.ECGECG shows right ventricular hypertrophy (+ right axis deviation) and may also show right atrial hypertrophy.ImagingRadiographyClassical boot-shaped heart.Echocardiography utilise to diagnose ductus arteriosus, VSD, or ASD with Doppler echocardiography.*Comparison of Baby Js origination to the classical presentationBaby J had severe pulmonary atresia (muscular in origin) due to a severely malrotated infundibular septum. He suffered from life-threatening cyanosis at birth which had to be go to to promptly by maintaining the patency of ductus arteriosis using prostaglandin E2. As he was exceedingly symptomatic, a palliative surgery to increase pulmonary blood flow had to be done where he underwent placement of Melbourne shunt connecting his aorta to MAPCA. This was done hoping to promote the development of main pulmonary artery. Baby J also had some other problem which was the 50% possible chance of inheriting Alagilles syndrome (autosomal dominant) from his father. His LFTs were checked for whatever liver abnormality which is commonly implicated in this syndrom e. He also had spine X-ray to exclude spinal deformities. He will be having ophthalmology review soon as well.GMC theme 2 Treatment astute treatment 4Neonates with severe cyanosis due to ductal constriction are given an extract of prostaglandin E2(0.05 to 0.1g/kg/min IV) to reopen the ductus arteriosus.Tet spells are usually self-limiting and followed by a period of sleep. If prolonged ( 15 mins), treatment consists of- 4placing infants in a knee-chest positionsedation and pain relief morphineIM.IV fluids are used for volume expansion.PropanololIV acts as peripheral vasoconstrictor.hydrogen carbonate to correct acidosis.Muscle paralysis and artificial ventilator to reduce oxygen demand.Symptomatic or palliative treatment in first few monthsPalliative surgery can be performed in patients who are not suitable for complete doctor or patients with tet spells. One of the commonly used procedures is the Blalock-Taussig shunt where the subclavian artery is connected to the ipsilateral pulmonary artery with a prosthetic graft.Baby J had a relatively revolutionary shunt placement (first developed in Melbourne) which connects the major aortopulmonary collateral artery (MAPCA) to aorta. This has been shown to promote the growth of central pulmonary artery. 2Melbourne shunt illustrates the completed shunt with the pulmonary artery anastomosed to the posterior and left lateral aspect of the rising aorta close to the sinotubular junction. Adapted from Ref 2Corrective SurgerySince TOF is a liberalist disorder, Baby J will require a more definitive corrective surgery. Nowadays, surgery is commonly performed electively at around 6 months of age (or before 1 year). The timing of complete surgical repair on Baby J will depend on numerous factors like further symptoms, severity of lesions (multiple VSDs, pulmonary atresia),etc.Complete repair is achieved by enchantment closure of VSD and widening of right ventricular outflow tract. Perioperative mortality rate isPrimary r epair is beneficial in terms of preventing long-term right ventricular outflow obstruction and the consequential development of right ventricular hypertrophy, prolonged cyanosis, and postnatal angiogenesis. 1SummarySurvival in children with simple forms of TOF is burnished and quality of life is good. Studies showed that survivors are in NYHA 1 class with token(prenominal) reduction in exercise capacity. However, Baby J has a earlier severe form of TOF and it is difficult to predict his prognosis as for now. This will depend on his progress after corrective surgery repair done. He will need life-long cardiac review and this can be quite stressful for the child and the family as well. Baby J is favorable to have good supportive parents who are both rather nauseous about the childs condition during the interview.