Cyanotic CHD

-Cyanosis in newborn
-Approach to Cyanotic CHD
-Specific Cyanotic Heart Disease

1. Welcome to Seminar Dr. Maimuna Sayeed Dr. Md. Tariqul Islam

2. Case Scenario History 4 weeks old male Gets bluish after feeding or crying Previously well, full-term baby The family history was negative

3. Case Scenario (Contd.) Physical Vigorous male, growing appropriately HR= 135, RR= 30, normal BP, no fever Lungs clear to auscultation b/l, no wheezes, rhonchi, rales Purplish lips, hands and feet Grade III/VI systolic murmur loudest at lower left sternal border Liver was 1.5cm below right costal margin and a normal spleen Peripheral pulses equal in upper/lower extremities, cap refill time < 3sec

4. Case Scenario (Contd.) Workup PaO2 of 38mm Hg and a hyperoxia test showed increase to 48mm Hg Electrocardiogram showed RVH

5. Case Scenario (Contd.) Chest X-ray

6. What could be the diagnosis

7. Congenital Cyanotic Heart Disease (Tetralogy of Fallot)

8. Congenital Cyanotic Heart Disease

9. Overview Cyanosis in newborn Approach to C yanotic CHD

10. Cyanosis in Newborn It is the bluish colouration of skin and mucous membrane due to increased deoxygenated haemoglobin in blood. Cyanosis becomes visible when there is >3-5g/dl of deoxygenated haemoglobin. - T. L . Gomella, 2013

11. Why Cyanosis Develops? The degree of cyanosis depends on both oxygen saturation and haemoglobin concentration . Cyanosis can be a sign of severe cardiac, respiratory or neurologic compromise . Cyanosis can also be caused by a reduced blood oxygen – carrying capacity secondary to an abnormal form of hemoglobin such as methemoglobinemia .

12. Causes of Cyanosis in Newborn Respiratory Diseases: Parenchymal: Transient Tachypnea of Newborn (TTN) Hyaline membrane Disease (HMD) Aspiration - Meconium, blood, mucus or milk Pneumonia Pulmonary Haemorrhage Edema

13. Causes of Cyanosis in New-born (Contd.) Non-Parenchymal: Airway obstruction mucous plug choanal atresia External compression of the lungs any air leaks pleural effusion Congenital defects congenital diaphragmatic hernia hypoplastic lung a denomatoid malformation diaphragm abnormality

14. Causes of Cyanosis in Newborn (Contd.) Cardiac causes: Transposition of Great Arteries (TGA) Tetralogy of Fallot (TOF) Total Anomalous Pulmonary Venous Return (TAPVR) Truncus arteriosus Tricuspid atresia Ebstien’s anomaly Single ventricle Hypoplastic Left Heart Double outlet right ventricle Persistent Pul HTN of Newborn (PPHN) Five Ts

15. Causes of Cyanosis in New-born (Contd.) CNS cause: Hypoxic Ischemic Encephalopathy Congenital Hydrocephalus Seizure Periventricular-intraventricular hemorrhage Miscellaneous : Methemoglobinemia Polycythemia Hypothermia Hypoglycemia Sepsis Metabolic acidosis

16. Making the diagnosis Immediate Questions: Does the infant have respiratory distress? Does the infant have a murmur? Was the infant cyanotic at birth? Is the cyanosis continuous, intermittent, cyclical, sudden in onset, or occurring only with feeding or crying?

17. Making the diagnosis (Contd.) Has the baby had the recommended pulse oximetry screening for CHD? Is there differential cyanosis? What is the prenatal & delivery history?

18. Diagnosis After through history and physical examination, investigations according to suspicion. Treatment according to cause.

19. Approach For Congenital Heart Disease In Newborn

20. Epidemiology of Congenital Heart Diseases Structural Congenital Heart Disease is 6-8 per 1000 live births Major cause of death during 1st year of life after prematurity (3/1000 live births) - John P. Cloherty , Manual of Neonatal Care: 7th Edition Congenital heart defects account for 27% of infant deaths worldwide. - American Heart association Update, 2013

21. Estimated causes of neonatal mortality around the year 2010 in Bangladesh Data source: Bangladesh-specific mortality estimates (Liu et al. 2012).

22. Congenital Heart Disease documentation By NNPD In Bangladesh, June 2014 – July, 2015

23. Etiology of CHD Factors associated with increased incidence: High risk of CHD in children: Prenatal factors: Genetic factors: Maternal rubella Radiation Alcoholism Age >40 yrs Insulin dependent diabetes Fetal intra uterine cardiac viral disease A sibling with a heart defect A parent with CHD Chromosomal aberration e.g. Down’s syndrome Born with other congenital anomalies

24. Common Presentations Of CHD Cyanosis CHF Asymptomatic heart murmur Arrhythmia

25. Relevant Clues From History For CHD Family History: The presence of a congenital heart lesion in a first-degree relative can have considerable diagnostic relevance. The recurrence rate in a first-degree relative is 1% to 4%. If there are two affected first-degree relatives, the recurrence rate is 3% to 12%. E.g . ventricular septal defect, patent ductus arteriosus , atrial septal defect, and tetralogy of Fallot - Arthur J Mos. 1992

26. History Maternal & Perinatal History- Maternal DM (Ventricular septal hypertrophy) Maternal Rubella (PDA) Maternal exposure to alcohol or drugs

27. Physical Examination Dysmorphic face (Trisomies 13, 18, 21) Colour- Pallor or cyanosis Signs of respiratory distress like tachypnea, chest indrawing Poor perfusions Pulse volume- bounding (PDA) or Diminished pulses in the lower extremities (COA) Blood pressure is ≥10 mmHg in arms than legs in COA

28. Physical Examination (Contd.) Abnormal heart rate (may be high or low than normal) Abnormal precordial activity (Dextrocardia, cardiac enlargement, ventricular impulse) Abnormal S2 splitting A single S2 occurs- Aortic atresia Pulmonary atresia (PA) Truncus arteriosus (TAC) Severe pulmonary stenosis (PS)

29. Physical Examination (Contd.) Abnormal extra heart sounds (gallop, pericardial friction rub) Pathologic murmurs (should be distinguished from innocent murmur) Hepatomegaly Extracardiac abnormalities

30. Diagnostic Tools Chest X-ray Electrocardiogram Echocardiogram Arterial Blood Gas Hyperoxia test Pulse oxymetry

31. Cyanotic heart disease ↑ Pulmonary Flow ↓ Pulmonary Flow TGA TOF Single Ventricle Pulmonary Atresia Truncus Arteriosus Tricuspid Atresia TAPVR w/o Obstruction TAPVR With Obstruction Single Ventricle Double Outlet Right Ventricle Hypoplastic Left Heart Syndrome Ebstein Anomaly (of Tricuspid Valve)

32. Transposition of the Great Arteries

33. Complete Transposition of the Great Arteries 5% of all CHD Male: Female = 3:1 Most common cyanotic condition that requires hospitalization in the first two weeks of life Aorta arises from the right ventricle Pulmonary artery arises from the left ventricle Defect to permit mixing of two circulations- ASD, VSD, PDA. VSD is present in 50% of cases, necessary for survival

34. Clinical Symptoms No mixing lesion and restrictive PFO Profound hypoxia Rapid deterioration Death in first hours of life Absent respiratory symptoms or limited to tachypnea Single second heart sound, no murmurs

35. Clinical Symptoms (Contd.) Mixing lesion present (VSD or large PDA) Large vigorous infant Cyanotic Little to no respiratory distress Most likely to develop CHF in first 3-4 months of life

36. Diagnosis CXR Egg shaped cardiac silhouette Narrow superior mediastinum ECG Normal or RVH Echocardiography Transposed ventricular & arterial connection

37. Management Prostaglandin to establish patency of the ductus arteriosus Therapeutic balloon atrial septostomy (Rashkind Procedure) if surgery is not going to be performed immediately Improves mixing and pulmonary venous return at the atrial level Definitive Surgery: Arterial switch operation ( Jatene ) - usually within first 2 weeks Mustard operation

38. Tricuspid Atresia

39. Tricuspid Atresia (Contd.) Represents about 2% of structural heart lesion Tricuspid valve fails to develop Hypoplasia of right heart Venous blood from right atrium depends on open ASD or PFO, VSD, PDA

40. Tricuspid Atresia (Contd.) Clinical Findings Cyanosis at birth Single S2 Systolic murmur along left lower sternal border Diagnosis Chest X-Ray: Oligemic lung fields

41. Tricuspid Atresia (Contd.) ECG Left axis deviation Reveals left ventricular hypertrophy Echocardiography Absence of tricuspid valve

42. Tricuspid Atresia: Tx PGE1 administration necessary Rashkind Balloon atrial septostomy Pulmonary artery banding Glenn shunt Superior and inferior vena cava are connected directly to the pulmonary arteries - Between 3-6 month Fontan procedure Anastomosis between Right atrium & pulmonary artery - Between 1.5 – 3 year of age

43. Truncus Arteriosus

44. Truncus Arteriosus (Contd.) Failure of primitive truncus arteriosus to divide into aorta and pulmonary Artery It constitute 1% of CHD VSD almost always present 4 types: According to arise of Pulmonary Artery from common trunk

45. Truncus Arteriosus (Contd.) Clinical Findings: Minimal cyanosis at birth Congestive Heart failure develops in 2-3 weeks Bounding pulses, pulse pressure widened Loud, single S2 Systolic murmur heard at left sternal border Diagnosis: ECG reveals biventricular hypertrophy Echocardiography: Demonstrates the large truncal artery overriding the VSD and the pattern of origin of the branch pulmonary arteries

46. Truncus Arteriosus (Contd.) CXR Cardiomegaly Increased pulmonary vascularity

47. Truncus Arteriosus: Tx Surgical repair (Rastelli repair) At 2 to 3 months of age Closing VSD Separation of pulmonary arteries from truncus Placing conduit between right ventricle and pulmonary arteries

48. Tetralogy of Fallot

49. Tetralogy of Fallot (Contd.) Constitute 10% of CHD Only 20% of TOF are cyanotic at neonatal period Variable Degree of Pulmonary stenosis and size of VSD determine present degree of Cyanosis

50. Tetralogy of Fallot (Contd.) Pathophysiology: Increased resistance by the pulmonary stenosis causes deoxygenated systemic venous return to be diverted from RV, through VSD to the overriding aorta and systemic circulation  systemic hypoxemia and cyanosis

51. Tetralogy of Fallot (Contd.) Symptoms: Dyspnea on exertion or when crying Tet spells: irritability, cyanosis, hyperventilation and sometimes syncope or convulsions due to cerebral hypoxemia.

52. Tetralogy of Fallot (Contd.) Patients learn to alleviate symptoms by squatting which increases systemic resistance and decreases the right-to-left shunt and directs more blood to the pulmonary circulation .

53. Tetralogy of Fallot (Contd.) Physical exam: Clubbing of the fingers and toes Single S2 Systolic ejection murmur heard at the upper left sternal border Lab Studies: CXR: prominent RV ECG: RVH, right axis deviation ECHO: displays and quantifies extent of RV outflow tract obstruction

54. Tetralogy of Fallot (Contd.) Complication: Hyper cyanotic spell Severe Polycythemia Cerebral thrombosis Cerebral abscess Infective endocarditis Heart failure Delayed growth, development and puberty

55. Tetralogy of Fallot (Contd.) Management: Correction of acidosis IV infusion of Prostaglandin E1 followed by palliative surgery Correction of anemia by iron therapy Correction of dehydration. Treatment of cyanotic spell Treatment of polycythemia: Blood may be replaced by plasma, dextran or saline after phlebotomy. Prophylactic antibiotic

56. Cyanotic Spell - Treatment Knee chest position Oxygen inhalation Morphine: 50-100 µg/kg ( sc , im, iv) Propranolol: 20 µg/kg iv Phenylephrine: 20 µg/kg iv Heavy sedation/anesthesia Assisted Ventilation

57. Total Anomalous Pulmonary Venous Return

58. Pathophysiology The pulmonary veins drain into the RA or its venous tributaries rather than the LA A interatrial communication (ASD or PFO) is necessary for survival Systemic and pulmonary venous blood are completely mixed thus produces cyanosis

59. Types of TAPVR Supracardiac (50%): Common pulmonary vein drains into the SVC via vertical vein Cardiac(25%): The common PV drains into the right atrium and/or the coronary sinus Infracardiac(20%): The common PV drains into the IVC or one of its major tributaries often via ductus venosus Mixed(5%)

60. Features Unobstructed PVR Mild to moderate desaturation, signs of CHF Systolic murmur heard at the LSB Obstructed PVR Severe cyanosis Respiratory distress Infants are severely ill Fail to respond to mechanical ventilation

61. Diagnosis Chest X-Ray: Snowman or figure of 8 appearance Cardiomegaly Plethoric lung field

62. Diagnosis (Contd.) ECG: RVH Echo: RVH Identify pattern of abnormal pulmonary venous connection

63. Treatment Digitalis and diuretics to treat heart failure Corrective surgery

64. Hypoplastic Left Heart

65. Hypoplastic Left Heart 2-3% of all CHD Presents first week of life, as PDA closes symptoms develop Ductal dependant systemic blood flow

66. Clinical Feature Cyanosis Poor perfusion Absent or weak pulse Right parasternal heave Systolic murmur

67. Diagnosis Chest X-Ray Cardiomegaly Plethoric ECG RVH ECHO Absence or hypoplasia of mitral valve & aortic root small left atrium & left ventricle

68. Treatment of Hypoplastic Left Heart Correction of acidosis & hypoglycemia PGE1 Balloon dilatation of atrial septum Norwood procedure Sano procedure

69. Single Ventricle

70. Clinical Feature Cyanosis Poor peripheral perfusion The first heart sound is normal The second heart sound is single & loud A systolic ejection murmur

71. Diagnosis (Contd.) Chest radiography: With pulmonary stenosis, the cardiac silhouette is normal to mildly enlarged. Pulmonary vascularity is not increased. With arch obstruction, the cardiac silhouette is usually at least mildly enlarged. Pulmonary vascularity usually is increased.

72. Diagnosis ECG: Ventricular hypertrophy Echocardiography: Two-dimensional echocardiography and Doppler analysis is diagnostic for single ventricle.

73. Treatment Surgery: If pulmonary stenosis is severe, a Blalock- Taussing aortopulmonary shunt If pulmonary blood flow is unrestricted, pulmonary arterial banding The bidirectional Glenn shunt followed by a modified Fontan operation If sub-aortic stenosis anastomosing the proximal pulmonary artery to the side of the ascending aorta ( Damus-Stansel Kaye operation).

74. Double Outlet Right Ventricle

75. Pathophysiology Both great arteries arise from the right ventricle in association with a nonrestrictive VSD. Left-to-right shunting across the VSD results in pulmonary over circulation, pulmonary hypertension, and congestive heart failure. Pulmonary stenosis results in right-to-left shunting and cyanosis.

76. Symptoms Baby tires easily, especially when feeding Cyanosis Congestive heart failure Single S2 Systolic murmur

77. Diagnosis Chest X-Ray DORV without PS Cardiomegaly plethora DORV with PS Heart is normal pulmonary vascular is oligemic

78. Diagnosis (Contd.) ECG Right axis deviation with Right, Left or bi ventricular hypertrophy Echo The location and size of VSD The position of aorta and pulmonary artery out from ventricle

79. Treatment Pulmonary arterial banding followed by surgical correction Intraventricular tunnel repair Switch repair ( arterial, atrial ) Taussing -Bing heart Rastelli operation

80. Ebstein Anomaly

81. Pathophysiology Downward displacement of an abnormal tricuspid valve into the right ventricle Right ventricle divided into 2 parts - Arterialized part & normal ventricular myocardium Functional pulmonary atresia

82. Clinical Features Cyanosis Cardiac dysrhythmia Gallop rhythm Hollo systolic murmur

83. Diagnosis CXR: Cardiomegaly with huge RA ECG: Right bundle branch block, tall p wave, prolonged PR interval ECHO: Displacement of tricuspid valve, dilated Right atrium, Right ventricular outflow tract obstruction

84. Treatment Neonate with severe hypoxemia: PGE1 Starness procedure : Surgical patch closure of tricuspid valve, atrial septectomy, placement of a aortopulmonary shunt Glenn shunt Fontan operation

85. Take Home Message Cyanotic Congenital heart disease in the newborn is a unique and complex problem faced by both neonatologists and cardiologists as it requires skilful handling and balancing of both neonatal issues as well as cardiac physiology. So rapid diagnosis and appropriate management is the key to reduce mortality and morbidity in this delicate newborn population.

86. Thank You