Approach to cyanotic congenital heart disease in new born

A PPT for Approach to new-born with cyanosis and congenital cyanotic heart disease.

1. APPROACH TO CYANOTIC CHD IN NEW BORN DR .JIGAR UPERIYA FELLOW IN NEONATOLOGY ANAND CHILDREN HOSPITAL SURAT,GUJARAT,INDIA

2. INTRODUCTION Cyanotic lesions comprise approximately one-third of potentially fatal forms of congenital heart disease (CHD). Early recognition, emergent stabilization, and transport to an appropriate cardiac care center are critically important in the outcome of newborns with these lesions. A clinical diagnosis of cyanotic congenital heart disease (CHD) is based on history, physical findings, chest radiography, and hyperoxia test. The diagnosis is confirmed by echocardiography.

3. Cyanosis Central cyanosis caused by reduced arterial oxygen saturation is generally perceptible when the reduced hemoglobin level exceeds 3 g/ dL . It can result from several different pathologic mechanisms that are caused by cardiac disorders, pulmonary abnormalities, or hemoglobinopathies

4. Primary cardiac lesions Decreased pulmonary blood flow, intracardiac right-to-left shunt Critical pulmonary stenosis Tricuspid atresia Pulmonary atresia/intact ventricular septum Tetralogy of Fallot Ebstein anomaly Total anomalous pulmonary venous connection with obstruction Normal or increased pulmonary blood flow, intracardiac mixing Hypoplastic left heart syndrome Transposition of the great arteries Truncus arteriosus Total anomalous pulmonary venous connection without obstruction Other single-ventricle complexes

5. APPROACH History Physical examination Chest radiograph Electrograph Hyperoxia test Echocardiography

6. Per i nat al h i s tor y Drug intake Causing neonatal depression Lithium- Ebstein anomaly Phenytoin - PS and AS . Fetal alcohol- VSD,ASD Maternal diabetes - TGA (m/c), ventricular septal defect (VSD), and hypertrophic cardiomyopathy Connective tissue disorder - Heart blocks associated with anti-Ro/SSA and anti-La/SSB antibodies. Congenital intrauterine infections cytomegalovirus, herpesvirus , rubella, or coxsackie virus can lead to cardiac structural abnormalities or functional impairment Antenatal fetal echocardiography

7. Associ a ti ons S ynd r ome Asso c i a ti on s T r i so m y 21 ( D o wn s ynd r ome ) Endo c a r d ial c u s h i o n de f ect, V S D , ASD X0 ( T urne r S ynd r ome ) Bi c us p i d Ao r t i c V a l v e, Coa r c t a t i o n o f Ao r t a T r i so m y 18, T r i so m y 13 V S D , AS D , P D A , c oa r c t a t i o n o f aor t a, b i c u s p id aor t i c o r p u l mona r y v al v e F r agi l e X M i t r al v a l v e p r o l a p s e , ao r t i c r oot d i l a t a t i on De le t i o n 5p (c ri d u c h a t s ynd r ome ) V S D , P D A , ASD CHARGE association ( c oloboma, h eart, a tresia choanae, r etardation, g enital, and e ar anomalies) VSD, ASD, PDA, TOF, endocardial cushion defect

8. Associ a ti ons S ynd r ome Asso c i a ti on s D i G e o r g e s eq u en c e, C A T C H 22 ( c a r d i ac de f ects, a b n orma l f ac ie s, t h ymic aplasia , c l e f t p a l a t e, and h ypo c al c emi a) Aor t i c a r c h anomal ie s, c onotru n c al anomal ies As p len i a s ynd r ome Complex cyanotic heart lesions with decreased PBF, TGA, TAPVR P o l y s p l en i a s ynd r ome Ac y anot i c l e sion s w i th i nc r ea s ed P B F , P A P V R , d e xt r o c a r d ia , s i n g l e ve n t r i c l e Congen i t al rube ll a P D A, p e r i p h e r al p u l mon i c s t en os is F e t al hy dan t o i n s ynd r om e V S D , P D A, ASD F e t al A l c oho l S ynd r om e AS D , V SD M a t ernal D iabe t es Hyper t r oph i c C a r d io my o p a t h y , V S D , T GA

9. HYPEROXIA TEST 100% O 2 for 5 - 10 min pO2 > 150 excludes most cyanotic heart diseases Normal pO 2 > 300 pCO 2 N Lung disease pO 2 > 150 pCO 2 High Cardiac disease pO 2 < 50 pCO 2 N PPHN pO 2 < 100 pCO 2 N CHD OR PPHN ?

10. PaO2 > 150 virtually rules out a CCHD PaO2 < 100 means CCHD or PPHN Failed Hyperoxia test doesn't help. If PaO2 is more than 150, it virtually rules out CCHD Hyperoxia test

11. Hyperoxia-Hyperventilation Test Hyperventilate with manual resuscitator and 100% O 2 until PaCO 2 reaches 20-25 mmHg Hyperventilation with alkalosis causes Pulmonary vasodilatation PaO 2 = 100 mmHg with hyperventilation PPHN PaO 2 < 100 mmHg R/O congenital heart disease

12. E C G I N CC H D • DETERMINATION OF VENTRICULAR HYPERTROPHY AND QRS AXIS DEVIATION AIDS IN DIAGNOSIS

13. Classificati o n o f con g enita l heart disea s es Group I : Group II: Group III: Left to right shunts Right to lefts shunts Obstructive lesions

14. Cynotic congenital heart disease With increased pulmonary blood flow With normal or decreased pulmonary blood flow Complete transposition of great arteries Tetralogy of Fallot Double outlet Right Ventricle Tricuspid Atresia Truncus Arteriosus Ebsteins Anomaly with R>L atrial shunt (ASD) Total Anomalous Pulmonary Venous Connection Pulmonary Atresia with intact ventricular septum Hypoplastic left heart syndrome Pulmonary AV fistula

15. Ductal Dependent Circulation

16. Ductal Dependent Pulmonary Circulation • Pulmonary Atresia/Intact ventricular septum • T r i s c up i d A t re s ia • C r i t i c al p u l mo na r y s t e n o s i s • T O F wi t h s e v e re P S • E bs t e i n s a nom a l y

17. D u c t a l d e p e n d ent S y s t e m i c C i rc u lat i o n • • • • Severe Coarctation of Aorta Obstructive TAPVC Aortic Stenosis Hypoplastic Left Heart Syndrome

18. TRANSPOSITION OF THE GREAT ARTERIES Transposition of the great arteries (TGA) is the most common cyanotic congenital heart defect presenting in the newborn period . The most accurate description is “a condition in which the aorta arises from the morphologic right ventricle and the pulmonary artery from the morphologic left ventricle”.

19. TGA sub types GROUP 1 : In group I with intact septum, the infants usually present with cyanosis within the first week of life (sometimes within hours to days of life ). Group II : TGA patients with VSD present with symptoms of congestive heart failure ( tachypnea,tachycardia , sweating, and poor feeding) between 4 to 8 weeks of life, but the cyanosis is minimal . Group III patients (TGA with VSD and PS) have variable presentation, depending upon the severity of PS

20. Physical Examinations The group I :patients with intact septum are usually severely cyanotic at birth but are without distress until severe hypoxemia and acidosis develop. NO MURMUR In group II,patients , tachypnea , tachycardia, minimal cyanosis, hepatomegaly , increased right and left ventricular impulses , single second sound, a grade III-IV/VI holosystolic murmur at the left lower sternal border (VSD) Group 3 : Single S2,Grade 3/4 murmur (VSD)

21. Chest xray : EGG SHAPED appereances Cardiomegaly with normal to increased pulmonary vascular markings. ECG – suggests right ventricular hypertrophy

22. TOTAL ANOMALOUS PULMONARY VENOUS CONNECTION In this entity, all the pulmonary veins drain into systemic veins, most commonly they drain into a superior vena cava, coronary sinus , portal vein. Type Also known as Abnormal c o n n e ct i on Type 1 Supracardiac PV join SVC Type 2 Cardiac PV join RA Type 3 Infracardiac PV joins IVC or below Type 4 Mixed Rare , multiple connections

23. Irrespective of the type, all pulmonary venous blood eventually gets back into right atrium, mixes with systemic venous return and gets redistributed to the systemic ( via patent foramen ovale ) and pulmonary ( via tricuspid valve) circulations . physiologic based on obstruction to the pulmonary venous return, namely, obstructive or non-obstructive . The supra-diaphragmatic forms are generally non-obstructive. The infra-diaphragmatic forms are almost always obstructive . Obstructive TAPVC is “DUCTUS DEPENDENT”

24. The right atrium, right ventricle and pulmonary arteries are enlarged. The left ventricle is of normal size while the left atrium is smaller than normal , presumably related to lack of pulmonary venous contribution .

25. Clinical features in TAPVC The non-obstructive TAPVC patients usually present with signs of congestive heart failure at about 4 to 6 weeks of life . There is hyperdynamic right ventricular impulse, Widely split, fixed second heart sound, A grade II to III/VI ejection systolic murmur at the left upper sternal border. The obstructive types, on the other hand present within the first few hours to days of life with signs of severe pulmonary venous congestion and manifest severe tachypnea , tachycardia and cyanosis.

26. In the non-obstructive type, cardiomegaly and increased pulmonary vascular markings on chest X-ray and right ventricular hypertrophy on an electrocardiogram are seen. In the obstructive type, the heart size is small or normal with evidence for severe pulmonary venous congestion

27. ECG – is suggestive of RVH with right axis deviation CXR-PA – – Snow man appearance or figure of eight appea r ance

28. Truncus Arteriosus In truncus arteriosus , one large vessel ( truncus ) arises from the heart which overrides a large outlet ventricular septal defect (VSD). The coronary, pulmonary and systemic arteries arise from this single vessel. Three types (Collette – Edward Classification) – Type 1 – a short single segment of pulonary artery arises from truncus and later divides into right and left pulmonary artery

29. Type 2 – Right and left pulmonary arteries arise sepeartely from posterior wall of truncus Type 3 – right and left pulmonary arteries arise seperately from lateral wall of truncus Associated anomalies Di-George Syndrome Clinical Features Normal S1, Loud S2 without splitting Ejection Systolic murmur heard

30. Initially the neonate with truncus is not symptomatic because of high pulmonary vascular resistance. Within the next several weeks, the pulmonary vascular resistance drops, increasing the pulmonary flow; eventually signs of congestive heart failure develop. At that point tachypnea , tachycardia, difficulty in feeding and sweating may develop. Because of high pulmonary flow, the cyanosis is minimal The first heart sound is usually normal with an ejection systolic click and A single second sound. A holosystolic murmur of VSD is usually present and a mid-diastolic rumble of excessive flow across the mitral valve may also be heard.

31. ECG – features suggestive of LV volume overload + RV pressure overload CXR-PA – Cardiomegaly + Pulmonary Plethora ( Clincally Cyanosis) : suggestive of truncus arteriosus

32. Tetralogy OF Fallot Most common cyanotic heart disease ! (25%) 4 component 1) Vetricular Septal Defect 2) Pulmonic Stenosis 3) Overriding of dextroposed aorta 4) Right Ventricular hypertrophy (Concentric R ventricular hypertrophy without cardiac enlargement)

33. RV and LV pressures becomes identical

34. RV and LV pressures becomes identical There i s little or n o L t o R shu n t

35. Hence , V S D i s silent

36. Right ventricle into pulmonary artery across pulmonic stenosis producing ejection systolic murmur

37. Hence, the more severe the pulmonary stenosis Less flow into the pulmonary artery Shorter the ejection systolic murmur More cynosis because of less flow to the lung!

38. Hence,Severity of cyanosis is directly proportional to the severity of pulmonic stenosis Intensity of the systolic murmur is inversely related to the severity of pulmonic stenosis . Congestive failure never occur because … Right ventricle is effectively decompressed because of the ventricular septal defect.

39. Clinical Picture • Symptomatic any time after birth • Paroxysmal attacks of dyspnea – Anoxic spells – Predominantly after waking up – Child cry – Dyspnea – Blue – Lose conscious – Convulsion – Frequency varies from once a few days to manyattack everyday

40. The mechanism – spasm of the infundibular septum, which acutely worsens the RV outlet obstruction.

41. Cyanosis during feeding – Poor feeding – fussiness, tachypnea , and agitation. – Birth weight is low. – Growth is retarded. – Development and puberty may be delayed .

42. • S1 normal • S2 single only A2 heard P2 soft & delayed: INAUDIBLE • Murmur – Shunt murmur (VSD) absent – Flow murmur: Ejection systolic,the smaller the flow the shorter the murmur • Ejection aortic click • ECG Right axis deviation (+120° to +150 °)Right or combined ventricular hypertrophy • Right atrial hypertrophy

43. HYPOPLASTIC LEFT HEART SYNDROME cardiac abnormalities characterized by marked hypoplasia of the left ventricle and ascending aorta . In the most severe form aortic and mitral valve are atretic with a diminutive ascending aorta and markedly hypoplastic left ventricle . The left ventricle is usually a thick-walled, slit-like cavity, especially when there is mitral atresia .

44. The right heart, i.e., right atrium , right ventricle and pulmonary arteries is markedly enlarged. A patent foramen ovale with left-to right shunt is frequently seen. The pathophysiology of HLHS is complex . Blood exiting the right ventricle flows into the lungs via the branch pulmonary arteries and into the body via the ductus arteriosus .

45. Clinical feature Following birth , pulmonary vascular resistance decreases which allows a higher percentage of the right ventricular output to go to the lungs instead of the body . While increased pulmonary blood flow results in higher oxygen saturation, systemic blood flow is decreased. Perfusion becomes poor, and metabolic acidosis and oliguria may develop . At birth, the infants may be asymptomatic. As the ductus begins to close and the pulmonary resistance falls, tachypnea , tachycardia and cyanosis may develop.

46. Physical signs are non-specific and are those of congestive heart failure, hyperdynamic precordium , single second heart sound non-specific grade I-II/VI ejection systolic murmur along the left sternal border . Chest xray reveals moderately to severely enlarged heart with increased pulmonary vascular markings . There is evidence for both increased flow and pulmonary venous congestion. Electrocardiogram shows right axis deviation, right ventricular hypertrophy,

47. TRICUSPID ATRESIA

48. TRICUSPID ATRESIA The most common type of TA,is characterized by a dimple or a localized fibrous thickening in the floor of the right atrium at the expected site of the tricuspid valve. The right atrium is usually enlarged and its wall thickened and hypertrophied . An interatrial communication, which is necessary for survival, is usually a stretched patent foramen ovale .

49. More than 90% TA have VSD Some of them have pulmonary stenosis . An obligatory right-to-left shunt occurs it the atrial level in most types and subtypes of TA . If VSD is present , left-to-right ventricular shunt occurs, thus perfuse the lungs . If VSD is absent-pulmonary circulation is derived either via a PDA (it is ductus dependent )

50. Symptoms Approximately one-half of the patients with TA present with symptoms on the first day of life and rest of them would have symptoms by the end of the first month of life. IF TA + VSD : Infants with pulmonary plethora usually present with signs of heart failure within the first few weeks of life

51. CXR depends on pulmonary blood flow (with VSD  Pulmonary plethora//without VSD -pulmonary oligemia ) ECG – Right atrial enlargement, left axis deviation, LVH The second heart sound is usually single . A holosystolic murmur suggestive of VSD.

52. Double Outlet Right Ventricle(DORV)

53. Double Outlet Right Ventricle(DORV) In this type of cono-truncal anomaly, both the great vessels arise from right ventricle. It is usually associated with VSD(Subaortic or subpulmonic ) 50 % cases VSD is perimembraneous and subaortic directing the left ventricular output into the aorta.  If there is no pulmonary stenosis , the clinical features are those of regular VSD.

54.  If there is significant pulmonary stenosis , the clinical picture is that of tetralogy of Fallot .  If the VSD is sub-pulmonary (25%), the left ventricular output is largely directed into the pulmonary artery; the physiology is that of transposition of the great arteries and is commonly referred to as Taussig -Bing malformation

55. DORV Clinical features Cyanosis Systolic thrill and holosystolic murmur due to VSD ECG – Right axis deviation with Right ventricular hypertrophy

56. EBTEIN ANOMALY

57. The tricuspid valve is morphologically and functionally abnormal. Inferior displacement of the tricuspide valve into right venricle,which may also causes sub pulmonary obstruction . This results in the classic atrialization of the right ventricle and tricuspid regurgitation.

58. This anomaly of the tricuspid valve represents 0.5% of congenital heart defects. An increased risk of sudden death presumably caused by arrhythmia. (WPW syndrome and SVT) There is an association with maternal lithium administration, but most cases are sporadic. Severity depending upon the degree of tricuspid valve involvement and the presence and type of arrhythmias patient.

59. First heart sound widely split with loud tricuspid component Second heart sound usually is normal widely split when the pulmonary component is delayed due to RBBB. The holosystolic murmur of tricuspid regurgitation.

60. complete obstruction of the pulmonary valve No ventricular septal defect The right ventricle is usually, but invariably, small and hypo-plastic. At the level of PFO– Right  left shunt. Entire pulmonary blood flow dependent upon the patency of ductus ..

61. Patient at birth -  NORMAL As ductus begins to close ,marked hypoxemia will occurs. Sever cyanosis and tachypnea . On examination, the cardiac impulses are quiet, the second heart sound is single and no murmur

62. INTERRUPTED AORTIC ARCH

63. Three types In type A, the arch discontinuity is distal to left subclavian artery. Type B is discontinuity between the left common carotid artery and the left subclavian artery. Type C, the discontinuity is between the right innominate artery and the left common carotid artery.

64. There is a strong association with DiGeorge’s syndrome, It is almost certainly associated with a patent ductus arteriosus which establishes continuity between the main pulmonary artery and the descending aorta. ( ductus dependent) At born baby is normal,, symptoms arises after closing of PDA Intravenous administration of PGE1 should start as soon as the diagnosis is made

65. Cyanosis at birth HLHS SEVERE EBSTEINS ANOMOLLY PULMONARY ATRESIA OBSTUCTIVE TAPVC D TGA WITH INTACT IVS 72 hours to 1 month DORV TRUNCUS ARTEOISUS TRICUSPID ATRESIA CRITICAL PS

66. > 1-2MONTH TOF WITH PS DORV NONOBSTUCTIVE TAPVC TRUNCUS ARTEIOSUS ADU L T WI T H C Y ANOSIS (Cyanosis Tardive) ASD VSD PDA AND AP WINDOW WITH EISENMEINGER PHYSIOLOGY

67. VENTRICULAR DOMINENCE Right Ventricle Dominant TOF, DORV + VSD + PS, d-TGA + VSD + PS, l–TGA + VSD+ PS, PS + ASD, HLHS. Left Ventricle Dominant Tricuspid atresia, 2 Pulmonary atresia with IVS, 3 Ebstein anomaly with hypoplastic right ventricle and non- restrictive ASD

68. Indications for fetal echocardiography The American Heart Association (AHA), American Society of Echocardiography (ASE), and Pediatric and Congenital Electrophysiology Society (PACES) suggest fetal echocardiography in the following settings [14].

69. Indications with higher risk profile (estimated >2 percent absolute risk): Maternal pregestational diabetes mellitus or diabetes mellitus diagnosed in the first trimester Maternal phenylketonuria (uncontrolled) Maternal autoantibodies (SSA/SSB), especially if a previous child had SSA/SSB-related heart disease

70. Maternal cardiac teratogens ( eg , thalidomide, angiotensin -converting enzyme [ACE] inhibitor, retinoic acid, nonsteroidal antiinflammatory drugs [NSAIDs] in the third trimester) Maternal first trimester rubella inefction . Maternal infection with suspicion of fetal myocarditis because of poor contractility or effusions on standard four-chamber cardiac examination.

71. Congenital heart disease in first degree relative of fetus (maternal, paternal or sibling) Fetal cardiac abnormality (structural, functional, arrhythmia) suspected on obstetrical ulatrsound Fetal noncardiac abnormality suspected on obstetrical ultarsound Fetal chromosome testing reveals a genetic mutation, deletion, erarrangement , or aneuploidy

72. Fetal tachycardia or bradycardia , or frequent or persistent irregular heart rhythm Fetal increased nuchal translucency >95 percentile (≥3 mm) on first trimester sonogarm Monochorionic twinning Fetal hydrops or effusions.

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