Case study of cyanotic congenital heart disease

Case study of cyanotic infixed heart affection babe J, a 3-week-old infant, was admitted to Ward 5A since birth due to severe central cyanosis ca employ 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 bustn 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 incessant positive airway pressure (CPAP) via an apnoea mask and to a fault 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 pneumonic atresia, overriding aorta and ventricular septate defect (VSD). Postnatally, cardiac catheterisation confirmed the antenatal findings with extra major a ortopulmonary collateral arteries (MAPCAs).He tolerated feeding via total parenteral nutrition and was given 6ml of EBM (expressed breast milk) at intervals of 2 hourly. bottleful feeding was attempted on 28/09/09 and he tolerated the feedings well. Recently, the feedings increased to 44ml 2 hourly. luxuriate J passed urine normally and his stools were of normal consistency.Past Medical and working(a) History bollocks J underwent a cardiac mental process on 1/10/09 through a median sternotomy and a Melbourne beltway was inserted to constrain an aortopulmonary connection.He was also maked with Alagilles syndrome (an autosomal dominant inherited disorder affecting the heart, liver, spine, kidney and central nervous system).Family History sister 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 HistoryNKDAMedicationDos bestrideFrequencyAspirin15mgODFrusemide3mgBDSpironolactone3mgBDSocial 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 alcohol while conceiving him.Systemic EnquiryNeurologicalNone to note.CardiovascularSee above.RespiratoryCyanotic. GINone to note. Opened bowel normally with normal stools.GenitourinaryNone to note. Passed urine normally.HaematologicalNone to note. No fevers or rigorsMusculoskeletalNone to note. hormoneNone to notePHYSICAL EXAMINATIONGeneral Inspectionnot 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 bpmRR 48/minAnterior fontanelle normal.Cardiovascular ExaminationExaminationFindingsBPPulse rate78/ 45 mmHg156 bpm(regular, normal volume, character)No radial-radial delay or radio-femoral delay. design radial/ brachial/ femoral pulses.Normal carotid pulses.InspectionHands and nails represent and tonguePrecordiumAnkleNon-cyanotic fingers. CRT No finger clubbing/ splinter haemorrhages.Non-pallor palmar creases.Deep-set eyes, prominent forehead (features of Alagilles syndrome)Non-pallor conjunctivaMild central cyanosis (bluish tinge to tongue) average stenotomy scar.No peripheral oedema (rarely seen in children)PalpationCentral trachea.No thrills or left parasternal heave.AuscultationHS=I+Single II (muscular pulmonary atresia) + Ejection jail (due to high flow across aortic valve) and continuous murmur.Respiratory ExaminationExaminationFindingsInspectionHandsMouthEyesChest wallNot breathless or in distress. Breathing at ease.No peripheral cyanosis.No finger clubbing.Mi ld 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, aromatic to percussion.AuscultationVesicular breath sounds.Normal air entry. No wheeze or added sounds. thickset of ProblemsBaby J suffered from severe cyanosis immediately post-delivery due to closure of ductus arteriosus. To keep abreast 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 arterial blood vessel by a shunt in order to promote issue of central pulmonary artery.Differential Diagnosis* just about likely differential for Baby J bolded.Differentials of cyanosis-Primary pulmonary diseaseCyanotic congenital heart diseaseReduced or duct-dep endent pulmonary circulationTetralogy of FallotPulmonary atresiaTricuspid atresiaAbnormal mixingTransposition of great arteriesTotal anomalous pulmonary venous drainage (all draining into right atrium)Single truncus arteriosusPersistent pulmonary hypertension due to persistent fetal circulationAnaemiaAsphyxiaSepsisMetabolic disorderMethaemoglobinaemia due to haemolytic anemiaManagement PlanInitial management-Respiratory distress at birth Resuscitation, give CPAP and PEEP to maintain oxygenation to lungs, immediate Prostin (5ng/kg/min)Check existingMaintain circulation IV fluidsRoutine bloods and ABGContinuous monitoring oxygen saturation and vitalsCardiology review- echo and CXREcho findings consistent with Fallot tetralogy with MAPCAsCXR found cardiomegalyFeeding via TPN (6ml/kg/2 hourly)Further management-cardiac catherisation to assess for cardiac anomalyCardiology experts advised surgery to establish connection between aorta and pulmonary artery to increase pulmonary blood f low.Melbourne shunt was inserted via median sternotomy on 1/10/09.Echo post-op showed good flow in small pulmonary arteries and transparent central shunt.Continue monitoring oxygen saturation aim to keep above 75%Perform cardiogramMonitor 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 UreaCreatinine1424.7 ascorbic acid3.977LFTsAlk 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 joined aortopulmary branches.X-ray of whole spineSingle AP view of thoracolumbar spine no abnormality found.Reflective Commentary Tetralogy of FallotTetralogy of Fallot (TOF) is the commo nest cause of cyanotic congenital heart disease. It has 4 cardinal anatomical anomalies- 1Large outlet VSDOverriding aorta with respect to ventricular septumRight 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, but evidence suggests a multifactorial cause. Antenatal risk factors are- agnate rubella (or other viral infections during pregnancy)Poor antenatal nutritionMaternal alcohol useMaternal age 40 yearsDiabetesChildren with Down syndrome arrive a higher risk of TOF.Presentation 4SymptomsVery 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 Hellenic of infants with TOF.Exertional d yspnoea usually worsens with age.Physical examinationSmaller 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 heard 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 roentgen 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.EchocardiographyUsed to diagnose ductus arteriosus, VSD, or ASD with Doppler echocardiography.*Comparison of Baby Js presentation 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 attended to promptly by maintaining the patency of ductus arteriosis using prostaglandin E2. As he was highly 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 another problem which was the 50% possible chance of inheriting Alagilles syndrome (autosomal dominant) from his father. His LFTs were checked for any liver abnormality which is commonly implicated in this syndrome. He also had spine X-ray to exclude spinal deformities. He will be having ophthalmology review soon as well.GMC theme 2 give-and-takeAcute treatment 4Neonates with severe cyanosis due to ductal constriction are given an in fusion 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.Bicarbonate 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 cook 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 new shunt placement (first developed in Melbourne) which connects the major aortopulmonary collateral artery (MAPCA) to aorta. This has been shown to promote the grow th of central pulmonary artery. 2Melbourne shunt illustrates the completed shunt with the pulmonary artery anastomosed to the posterior and left lateral aspect of the ascending aorta close to the sinotubular junction. Adapted from Ref 2Corrective SurgerySince TOF is a progressive disorder, Baby J will require a more definitive tonic surgery. Nowadays, surgery is commonly performed electively at around 6 months of age (or before 1 year). The timing of complete surgical pay off on Baby J will depend on numerous factors like raise symptoms, severity of lesions (multiple VSDs, pulmonary atresia),etc.Complete repair is achieved by patch closure of VSD and widening of right ventricular outflow tract. Perioperative mortality rate isPrimary repair 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 fo rms of TOF is promising and quality of life is good. Studies showed that survivors are in NYHA 1 class with minimal reduction in exercise capacity. However, Baby J has a rather 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 fortunate to have good supportive parents who are both rather anxious about the childs condition during the interview.