Role of Serial Pulse Oximetry Screening in Early Detection of Critical Congenital Heart Disease in Newborn
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ROLE OF SERIAL PULSE OXIMETRY SCREENING IN EARLY DETECTION OF CRITICAL CONGENITAL HEART DISEASE IN NEWBORN DISSERTATION SUBMITTED TO THE TAMILNADU DR.M.G.R. MEDICAL UNIVERSITY, CHENNAI In partial fulfilment of the requirements for the degree of M.D. BRANCH – I (PAEDIATRICS) DEPARTMENT OF PAEDIATRICS TIRUNELVELI MEDICAL COLLEGE HOSPITAL TIRUNELVELI – 627011 MAY-2020 BONAFIDE CERTIFICATE This is to certify that the dissertation entitled “ROLE OF SERIAL PULSE OXIMETRY SCREENING IN EARLY DETECTION OF CRITICAL CONGENITAL HEART DISEASE IN NEWBORN” submitted by Dr.S.NARAYANA SWAMY, to the Tamilnadu Dr. M.G.R Medical University, Chennai, in partial fulfillment of the requirement for the award of M.D. Degree Branch – I (Paediatrics) is a bonafide research work carried out by her under direct supervision & guidance. Professor & Head of the Department, Unit Chief, Department of General Medicine Department of General Medicine Tirunelveli Medical College, Tirunelveli Medical College, Tirunelveli. Tirunelveli. CERTIFICATE BY THE DEAN I hereby certify that this dissertation entitled “ROLE OF SERIAL PULSE OXIMETRY SCREENING IN EARLY DETECTION OF CRITICAL CONGENITAL HEART DISEASE IN NEWBORN” is a record of work done by Dr S.NARAYANA SWAMY., in the Department of Paediatrics, Tirunelveli Medical College, Tirunelveli, during her postgraduate degree course period from 2017- 2020. This work has not formed the basis for previous award of any degree. The DEAN Date : Place : TIRUNELVELI Tirunelveli Medical College, Tirunelveli - 627011. DECLARATION I solemnly declare that the dissertation entitled “ROLE OF SERIAL PULSE OXIMETRY SCREENING IN EARLY DETECTION OF CRITICAL CONGENITAL HEART DISEASE IN NEWBORN” is done by me at Tirunelveli Medical College Hospital, Tirunelveli Under the guidance and supervision of Prof.Dr.Ananthyshree M.D, the dissertation is submitted to The Tamilnadu Dr. M.G.R. Medical University towards the partial fulfilment of requirements for the award of M.D. Degree (Branch I) in Paediatrics. Place: Tirunelveli Dr S.NARAYANA SWAMY Date: Postgraduate Student, M.D Paediatrics, Department of Paediatrics, Tirunelveli Medical College Tirunelveli. CERTIFICATE – II This is to certify that this dissertation work entitled “ROLE OF SERIAL PULSE OXIMETRY SCREENING IN EARLY DETECTION OF CRITICAL CONGENITAL HEART DISEASE IN NEWBORN”of the candidate Dr S.NARAYANA SWAMY with registration Number 201717355 for the award of M.D. Degree in the branch of PAEDIATRICS(I). I personally verified the urkund.com website for the purpose of plagiarism check. I found that the uploaded thesis file contains from introduction to conclusion page and result shows 2 percentage of plagiarism in the dissertation. Guide & Supervisor sign with Seal. ACKNOWLEDGEMENT I wish to express my heartfelt gratitude to our Dean Prof.Dr. S. M. .Kannan M.S., MCh., Tirunelveli Medical College for allowing me to do the study in this institution. I would like to express my humble thanks to our professor & Head of the Department Prof .Dr .C.Krishnamoorthy M.D., Department of Paediatrics. I express my sincere thanks to my renowned teacher and my guide Dr.T.R.R.Ananthyshree M.D., Professor, Department of Paediatrics, Tirunelveli Medical College for his guidance, valuable suggestions and constant encouragement throughout the study. I express my sincere thanks to my professors, Dr. Baskar M.D., Dr.Rukmani, M.D., Dr.Babu Kantha Kumar M.D., for their constant support, encouragement and suggestions which helped me greatly to expedite this dissertation . I extremely thank to my PG registrar Dr. Naresh M.D., for his constant support throughout my study. I am greatly obliged to Dr.Suresh M.D., Dr. Kavitha M.D., Dr. Vanitha M.D., Dr. Syed Ibrahim Sha M.D., Assistant Professors, Dept. of Paediatrics for their valuable suggestions in preparing this dissertation. CONTENT S.NO TITLE PAGE.NO 1. INTRODUCTION 1 2. AIM AND OBJECTIVES OF THE STUDY 2 3. REVIEW OF LITERATURE 3 4. MATERIALS AND METHODS 49 5. RESULTS 52 6. DISCUSSION 83 8. CONCLUSION 90 9. LIMITATIONS OF THE STUDY 93 10. BIBILIOGRAPHY 11. MASTER CHART INTRODUCTION Congenital Heart Disease is the most common type of birth defect, accounting for approximately 0.8% of live births.(1) Critical Congenital Heart disease (CCHD) are defined as structural heart defects that are associated with significant mortality without intensive intervention. Critical congenital heart disease is a major cause of infant death worldwide. An early diagnosis & intervention can significantly decrease the mortality & morbidity. Morever , studies shows 30 -50 % of infants with CCHD are not identified before getting discharged in postnatal period. Of all life threatening cardiovascular malformations reported, nearly 30 % of infants were diagnosed after discharge from their birth hospital & 5% after death. Nearly 10 % of all infants with CCHD die before a timely diagnosis is made. So this ensues an existence of a diagnostic gap. CCHDs are often are associated with hypoxia among infants during new born period. Use of early routine spo2 monitoring through pulse oximetry can help in early detection of CCHD and can be tried to fill this diagnostic gap existing so far.. 1 AIMS AND OBJECTIVES 1. To assess the role of spo2 monitoring through pulse oximetry among newborn infants in early detection of critical congenital heart disease 2. To compare the sensitivity and specificity of Pulse oximetry SpO2 monitoring with other modalities associated with the diagnosis of critical congenital heart disease. 2 REVIEW OF LITERATURE Congenital heart disease(CHD) is the commonest of all birth defects encountered in newborn. These defects generally result from the abnormal development of a normal structure in fetus or failure of progression beyond the early stage of embryonic or early fetal development. Estimated prevalence of CHD is 6 to 8 per 1000 live births, with higher rate of still birth, spontaneous abortion and prematurity occurring among babies with congenital heart disease. EPIDEMIOLOGY Congenital Heart disease contributes to 28% of all major congenital malformations(1) With current CHD birth prevalence approximately 1.35 million live births per year were with CHD , representing a major health issue. Among World population, Asia reported to have highest birth prevalence of CHD accounting for 9.3 per 1000 live births. Among Neonatal deaths, 4.2% of deaths are due to CHD according to a study.(2) 3 ETIOPATHOGENESIS The etiological factor of most CHD is unknown. In the past, circumstances were even more worst because many children with CHD did not survive to adult age as investigations such as fetal echocardiography and effective medical and surgical treatment modalities were not available. ETIOLOGY Several factors have been linked with the development of congenital heart disease Multifactorial (85%) Genetic Factors (10 -12%) Chromosomal anomalies such as Down’s syndrome , turner syndrome, 22q11.2 syndrome, Noonan syndrome, Alagille syndrome etc.. etc are associated with CHD. Mutations or aberrations in genes such as CFC1, FOXH1, GATA4, GATA6, HAND1, MED13L, GDF1, GJA1, NKX2- 5, NKX2-6,NOTCH1, SMAD6 are more commonly associated with development of critical congenital Heart disease. Environmental Factors (1-2%) 4 Congenital intrauterine infections such as rubella or maternal intake of alcohol contributes to development of CHD in newborn Maternal Factors (1-2%) Maternal Connective tissue disorders like SLE, maternal diabetes, maternal exposure of teratogenic drugs such as warfarin, phenytoin, retinoic acid, Thalidomide, Oral contraceptive pills, lithium leads to development of CHD. PATHOGENESIS CLASSIFICATION 0F CONGENITAL HEART DISEASE BY PATHOGENIC MECHANISM 1.ABNORMALITIES OF MESENCHYMAL TISSUE MIGRATION(CONOTRUNCAL DEFECTS) Subarterial ventricular septal defect Aortopulmonary window ( AP Window) Double outlet right ventricle(DORV) Tetrology of fallot (TOF) D-transposition of great vessels Truncus arteriosiscommunis 5 Pulmonary atresia with VSD 2. ALTERED CARDIAC HEMODYNAMICS Coarctation of aorta with intact ventricular septum Hypoplastic left heart syndrome Aortic valvular stenosis Interupted aortic arch ,type A Atrial septal defect, secundum type (2 degree ASD) Pulmonary atresia without VSD Perimembranous VSD 3.ABNORMALITIES IN PROGRAMMED CELL DEATH Muscular VSD Ebsteinanamoly 4.Abnormalities of Extracellular matrix Endocardial cushion defects (AV canal defects) 5.Targeted growth defects Total anomalous pulmonary venous return 6 CRITICAL CONGENITAL HEART DISEASE Critical Congenital heart disease (CCHD) is defined as a group of heart defects leading to serious life threatening symptoms requiring intensive care and surgical or catheter based intervention within first year of life for optimal outcome. Critical Congenital Heart disease can be further divided into 2 categories based on hypoxemia as their clinical picture. 1. Cyanotic(Hypoxemic) 2. May be Acyanotic( not hypoxemic) Cyanotic type These CCHDs mostly consistently present with significant hypoxemia, therefore can be diagnosed by pulse oximetry screening. CCHDs included in this category are Hypoplastic left heart syndrome (HLHS Truncus arteriosus Truncus arteriosus Tetralogy of Fallot (TOF) Total Anamalous pulmonary venous return (TAPVR) Transposition of great arteries (TGA) 7 Tricuspid Atresia Pulmonary Atresia, with intact septum. Not always cyanotic. These CCHDs are not always cyanotic, hence less likely to be detected by pulse oximetry screening. Aortic arch atresia Ebstein anomaly