Congestive heart disease (reading on it is too important

Heart disease mainfastation depends on the type of heart disease

1. Presented by Dr Befkadu Yilma May, 2024 CHD

2. Topic O utline Defnition Fetal & Transitional Circulation Prevalence Etiology Classification of CHD Acyanotic CHDs Cyanotic CHDs Eisenmenger Syndrome

3. CHD CHD results when the heart, or blood vessels near the heart, don’t develop normally before birth D efects from mi s shap e during heart development soon after conception — often before mother is aware she is pregnant The word “congenital” means existing at birth

4. Fetal circulation Its Different from the Infant Circulation Infant Circulation: IVC →RA → RV → PA → PV → LA → LV → A Feta Circulation Placenta→UV+IVC→RA→PFO→LA→LV→A or Placenta→UV+IVC→RA→ RV →PA → PDA → A After Several hours to days UA, UV & Ductus Venoses regress in to ligaments PFA and PDA closes preventing right to left shunt

5. Transitional circulation Interruption of Umblical cord Removal of the low resistance placental circulation result in an increased systemic vascular resistance Lack of blood flow through the placenta leads to the closure of Ductus venosus. Expansion of lungs Mechanical expansion of the lungs and increased arterial Po2 result in a rapid decrease in pulmonary vascular resistance

6. The output from RV flows entirely to the pulmonary circulation The increased blood volume from the pulmonary circulation increased the LA volume and pressure suffciently to close the foramen ovale

7. PDA closure The ductus flow become left to right and later the ductus will obliterated and become ligamentum arteriosus Functional closure at 10 to 15 hours after birth & anatomic closure after weeks Increased systemic O2 saturation is strongest stimulus or constriction of ductal smooth muscle Gestational age: decreased responsiveness of ductal smooth muscle to oxygen in premature infant Decreasing prostaglandin levels leads to closure

8. Prevalence of CHD O ccurs in approximately 0.8% of live births. I n stillborns (3-4%), spontaneous abortuses (10-25%). Approximately 2% in premature infants excluding PDA H ave a wide spectrum of severity in infants A bout 2-3 in 1,000 newborn infants will be symptomatic with heart disease in the 1st yr of life

9. The diagnosis is established by 1 wk of age in 40-50% of patients and by 1 mo of age in 50-60% of patients R emains the leading cause of death in children with congenital malformations Except PDA and ASD males are more affected than females.

10. Relative frequency of major congenital heart lesions

11. Etiology Mostly is unknown Most cases of congenital heart disease were thought to be multifactorial (Combination of genetic and environment) Small percentage of CHD are related to known chromosomal abnormalities: trisomies 21, 13, and 18 and Turner syndrome; Heart disease is found in >90% of patients with trisomy 18, 50% of patients with trisomy 21, and 40% of those with Turner syndrome

12. Certain types of VSDs (supracristal) are more common in Asian children The risk of CHD increases if a first-degree relative (parent or sibling) is affected Deletion of a large region (1.5-3 Mb) of chromosome 22q11.2, known as the DiGeorge critical region mentioned Certain teratogens like Thalidomide, excess of Retinoic Acid, Alcohol, Hypoxia and Deficiencies of Folic acid, Vit A, B3, D also mentioned with Rubela, DM & Obesity

13. Suspect CHD in any child with the following: Feeding difficulty Sweating during breastfeeding Recurrent attack of respiratory tract infection Growth failure Cyanosis unresponsive to 100% of oxygen Tachycardia Respiratory distress Rhythm disturbance Murmur

14. Types of CHD Obstructive: Narrow or block blood flow through the heart chambers, valves, or arteries Examples: Pulmonary stenosis & atresia , Aortic stenosis & atresia, coarctation of aorta, Epsten’s anomaly, Hypoplastic left heart syndrome Non Obstructive: Don’t significantly block blood flow through the heart. But, they can affect the heart's function Examples: ASD, VSD, PFO, TOF

15. Classification of C ongenital H eart D isease Acyanotic Congenital Heart Lesions Lesions Resulting in Increased Volume Load Eg. ASD, VSD, PDA, AV -canal defect (increased pul. vascularity) Lesions Resulting in Increased Pressure Load Pulmonary stenosis, aortic stenosis, coarctatition of aorta (normal pulmonary vascularity)

16. 2. Cyanotic Congenital Heart Lesions Cyanotic Lesions with Decreased Pulmonary Blood Flow e.g. tricuspid atresia, TOF , single ventricle with pulmonary stenosis, pulmonary atresia Cyanotic Lesions with Increased Pulmonary Blood Flow e.g. TGA , TAPVR, truncus arteriosus

17. Acyanotic C ongenital H eart L esions (Left-right shunts) Atrial Septal Defects (ASD): Can occur in any portion of the atrial septum ( primum, secundum , or sinus venosus ) Infants and children with ASDs are usually asymptomatic Examination of the chest reveal mild left precordial bulge RV systolic lift may be palpable at the left sternal border Sometimes a pulmonic ejection click can be heard

18. ASD…

19. Characterstic finding: the second heart sound (S2) is widely split and fixed in its splitting during all phases of respiration Systolic ejection murmur in older infants and children pulmonic area ECHO- is diagnostic(RV volume overload) ECG shows RV volume overload: the QRS axis may be normal or exhibit right axis deviation, and a minor RV conduction delay CXR- Cardiomegaly and prominent PA may be present.

20. Treatment Lasix ACE inhibitors (decrease afterload) Surgical or transcatheter device closure if symptomatic or Qp:Qs of 2:1 or RV enlargement usually after 1 year and before school age

21. ASD…

22. Prognosis Small to moderate-sized ASDs detected in term infants may grow smaller or close spontaneously Secundum ASDs are well tolerated during childhood, and significant symptoms don’t usually appear till 3rd decade or later Pulmonary hypertension, atrial dysrhythmias, tricuspid or mitral insufficiency, and heart failure are late manifestations; may also appear pregnancy

23. Acyanotic congenital heart lesions… Ventricular Septal Defect (VSD): Commonest , more than 25% of CHD Defect can be at any site in the IVS Size varies from very small to large The magnitude of the shunt is determined by the size, not the location, of the defect and the level of pulmonary vascular resistance (PVR). Small ones close spontaneously(30- 40 %) M ost common are of the membranous type (b/n Ventricles)

24. VSD: sites

25. VSD… Clinical manifestation: Small VSD(<4mm)- asymptomatic, blowing holosystolic murmur Medium to large VSD(>4mm): Dyspnea , feeding difficulties, poor growth, profuse perspiration, recurrent pulmonary infections. Can present with CHF by 6 – 8 weeks Clinically a PSM is heard as early as 2 -3 days of life, Best heard in LLSB & accompanied by a thrill Prominence of left precordium and laterally displace apical impulse

26. VSD… The murmur(of large VSD) is less harsh than small VSD and more blowing due absence of a significant pressure gradient across the defect It is even less likely to be prominent in the newborn period The murmur is best appreciated on the bell of the stethoscope Diagnosis: Small VSD : CXR normal or minimal cardiomegaly .

27. VSD… Large VSD : CXR- gross cardiomegaly with prominence of both ventricles, the left atrium, and the pulmonary artery Pulmonary vascular markings are increased, and frank pulmonary edema, including pleural effusions, may be present ECG shows biventricular hypertrophy; the P waves may be notched (indicative of LA enlargement) ECHO shows the position and size of the VSD

28. Treatment: A significant number (30–50%) of small defects close spontaneously, most frequently during the 1st 2 yr of life Small muscular VSDs are more likely to close (up to 80%) than membranous VSDs (up to 35%) Medical management (Lasix, ACE inhibitors,Beta blockers) Surgical closure

29. American Heart Association state an isolated, small, hemodynamically insignificant VSD is not indication for surgery Patients with VSD are also at risk for the development of aortic valve regurgitation Indications for surgical closure of a VSD include patients at any age with large defects in whom clinical symptoms and failure to thrive cannot be controlled medically;

30. Infants between 6 and 12 mo of age with moderate to large defects associated with pulmonary hypertension Patients older than 24 mo with a Qp:Qs ratio greater than 2 : 1 Prognosis After surgery, the hyperdynamic heart becomes quiet, cardiac size decreases toward normal, thrills and murmurs are abolished, and PAH regresses

31. VSD…

32. AV canal(endocardial cushion) defect E ndocardial cushion tissue contributes to the closure of the lower part of the atrial septum, the upper part of the ventricular septum and to the formation of the mitral and tricuspid valves The failure of this tissue to develop may be complete or partial Complete form of endocardial cushion defect (ECD): VSD Primum type of ASD Clefts in the mitral and tricuspid valves Partial form of ECD: Primum type of ASD often associated with a cleft in the mitral valve

33. AV canal defect…

34. Hx: exercise intolerance, easy fatigability, and recurrent pneumonia especially in infants with large left-to-right shunts and severe mitral insufficiency P/E: Moderate/Marked cardiac enlargement or Precordium is hyperdynamic Left-to-right shunt can cause a normal or accentuated first heart sound (S1 ); wide, fixed splitting of S2 ; a pulmonary systolic ejection murmur sometimes preceded by a click

35. It can cause low-pitched, mid-diastolic rumbling murmur at the lower left sternal edge or apex, or both, as a result of increased flow through the AV valves Mitral insufficiency may be manifested by a harsh apical holosystolic murmur that radiates to the left axilla With complete AV septal defects, heart failure and intercurrent pulmonary infection usually appear in infancy

36. The liver is enlarged, and the infant often develops feeding intolerance and failure to thrive Hemodynamic changes seen with complete ECD are the sum of the changes of ASD and VSD CHF occurs within a few weeks, which is earlier than in the usual VSD

37. Diagnosis Chest x-ray (complete defects) moderate to severe cardiac enlargement due the prominence of both ventricles and atria The pulmonary artery is large, and pulmonary vascularity is increased Echo shows signs of RV enlargement, low position of AV valves (gooseneck deformity of LVOT) Complete AV septal defects are associated with RV and pulmonary hypertension and, in older patients, increased PVR

38. Treatment Diuretics (Decrease preload), ACE inhibitors(dec afterload), Digoxin to decrease HR and increase inotropy(not remark in CHF) Surgical treatment of complete AV septal defects is complex, but highly successfull Due risk of pulmonary vascular disease develop as early as 6-12 mo of age, surgical intervention must be performed during infancy Often there may be residual tricuspid or mitral regurgitation, which requires follow up as it may require replacement with a prosthetic valve later in life

39. Prognosis It depends on the magnitude of the left-to-right shunt, degree of PVR elevation, and severity of AV valve insufficiency Patients who survived without surgery usually developed pulmonary vascular obstructive disease Most with ostium primum defects and minimal AV valve involvement are asymptomatic or have only minor, nonprogressive symptoms until they reach the 3rd or 4th decade of life

40. Patunt Ductus Arteriosus During fetal life, most of the pulmonary arterial blood is shunted right-to-left through the ductus arteriosus into the aorta Ductal closure occurs by 72 hr after birth in almost all term infants 65% of preterm infants born at <30 wk GA, the ductus remains patent

41. PDA…

42. Shunting through the PDA may initially be bidirectional or right to left As respiratory distress syndrome (RDS) resolves: pulmonary vascular resistance (PVR) decreases, and left-to-right shunting may occur, This can lead to left ventricular (LV) volume overload and pulmonary edema

43. Risk factors Risk factors for delayed closure of the PDA include Hypoxia, Acidosis, Increased pulmonary pressure secondary to vasoconstriction, Systemic hypotension, Immaturity, and Local release of prostaglandins (which dilate the ductus)

44. Clinical Manifestations The hemodynamics of PDA are similar to those of VSD Small PDA - asymptomatic Large PDA - heart failure Hepatomegaly, increasing oxygen dependence, carbon dioxide retention, renal failure Bounding peripheral arterial pulses and a wide pulse pressure Retardation of physical growth can be a major manifestation in infants with large shunts

45. The significant pressure gradient between the aorta and the PA in both systole and diastole causes: The left-to-right shunt occurs in both phases of the cardiac cycle, This Produce the characteristic continuous murmur of this condition ( “machinery-like” in quality) A thrill , maximal in the 2nd left interspace, is often present and radiate toward the left clavicle, down the left sternal border, or toward the apex

46. Diagnosis Chest xray - Normal ( If PDA small) CXR- in large PDA, enlargement of the LA, LV, and PA, and an increase in pulmonary vascular markings ECHO- diagnostic (With large shunts, left atrial and LV dimensions are increased)

47. Treatment Fluid restriction, diuretics, cyclooxygenase (COX) inhibitors (indomethacin or ibuprofen), and surgical ligation For extremely preterm infants(>90%), PDA will close spontaneously by the time of discharge Avoidance of excessive fluid administration(<7 days of age) and judicious use of diuretics to manage pulmonary edema helps early closure

48. Pharmacologic and surgical ductal closure may be indicated in the premature infant with: a moderate to large, hemodynamically significant PDA when there is a delay in clinical improvement or deterioration

49. Complications (If not treated) E ndarteritis Systemic or pulmonary emboli Aneurysmal dilatation of the ductus Calcification of the ductus Pulmonary hypertension (Eisenmenger syndrome) Good prognosis if surgery done

50. Prognosis Spontaneous closure of the ductus after infancy is extremely rare Patients with a small PDA may live a normal span with few or no cardiac symptoms, but late manifestations may occur In patients with a large PDA, cardiac failure most often occurs in early infancy but may occur later in life, even with a moderate sized communication

51. Coarctation of Aorta Constrictions of the aorta of varying degrees may occur at any point from the transverse arch to the iliac bifurcation 98% occur just below the origin of the left subclavian artery at the origin of the ductus arteriosus (juxtaductal coarctation) Blood pressure is elevated in vessels arising proximal to the coarctation Blood pressure as well as pulse pressure is lower below the constriction

52. Pathophysiology Coarctation may be initiated in fetal life By the presence of a cardiac abnormality that results in decreased blood flow anterograde through the aortic valve (e.g., bicuspid aortic valve, VSD) The other theory is coarctation may be caused by abnormal extension of contractile ductal tissue into the aortic wall

53. Radio-femoral delay of pulse; occurs when blood flow to the descending aorta is dependent on collaterals If detected before ductal closure, neonates may exhibit differential cyanosis The femoral, popliteal, posterior tibial, and dorsalis pedis pulses are weak (or absent in up to 40% of patients), in contrast to bounding pulses palpated in the arms and carotid vessels

54. Clinical Manifestations When Recognized after infancy, not usually associated with significant symptoms Most are asymptomatic The classic sign of coarctation of the aorta is a disparity in pulsation and BP in the arms and legs Some children or adolescents has weakness or pain/claudication (or both) in the legs after exercise Older children can be diagnosed when brought with hypertension on routine physical examination

55. Clinical Manifestations A short systolic murmur along the left sternal border at the 3rd and 4th intercostal spaces , transmitted to the left infrascapular area If large VSD is present CHF occurs early If PDA is proximal to Coarctation , large shunting into PA causes CHF If ductus is distal(Coarctation - Preductal) symptoms are delayed On Physical examination the heart is large

56. Neonates or infants with more severe coarctation, usually including some degree of transverse arch hypoplasia, initially have: Signs of lower body hypoperfusion, Acidosis, and Severe heart failure These signs may be delayed days or weeks until after closure of the ductus arteriosus

57. Diagnosis With severe coarctation: Cardiac enlargement and pulmonary congestion are noted in infants Less severe forms of coarctation: No striking findings until after the first decade(till heart is enlarged due Left ventricle) Notching of the inferior border of the ribs from pressure erosion by enlarged collateral vessel by late childhood Neonates and young infants display right or biventricular hypertrophy Segment of coarctation and associated lesion of mitral & aortic valves can be visualized by echocardiography

58. Treatment Neonates with severe coarctation, closure of the ductus often results in hypoperfusion, acidosis, and rapid deterioration These patients should be given an infusion of prostaglandin E1 to reopen the ductus and reestablish adequate lower-extremity blood flow Once a diagnosis has been confirmed and the patient stabilized, surgical repair should be performed

59. Older infants with heart failure but good perfusion should be managed with anticongestive measures To improve clinical status in preparation for surgical intervention lasix, beta blockers, ACE inhibitors and nitroprusside used There is usually no reason to delay surgical repair waiting for patient growth; successful repairs have been performed even in small premature infants

60. Cyanotic Congenital Heart Lesions

61. Tetralogy of Fallot There are four components that Fallot initially described: (1) Obstruction to right ventricular (RV) outflow (pulmonary stenosis); (2) Malalignment type of ventricular septal defect (VSD); (3) Dextroposition of the aorta so that it overrides the ventricular septum; and (4) Right ventricular hypertrophy Degree of pulmonary outflow obstruction determines degree of cyanosis and the age of first presentation

62. TOF…

63. When the right ventricle contracts in the presence of marked pulmonary stenosis, blood is shunted across the VSD into the aorta A cyanotic or “pink” tetralogy of Fallot - obstruction to right ventricular outflow is mild to moderate Severe obstruction- cyanosis will be present from birth and worsen when the ductus begins to close Complete obstruction of RV outflow (tetralogy with pulmonary atresia) is extreme form of tetralogy of Fallot

64. Clinical Manifestations Mild RV outflow obstruction- heart failure (“pink” or acyanotic TOF) S evere RV outflow obstruction- neonatal cyanosis Older children: dusky blue skin, gray sclerae with engorged blood vessels, and marked clubbing. assume a squatting position . Paroxysmal hypercyanotic attacks (hypoxic,“blue,”or“tet” spells).

65. I nfant becomes hyperpneic and restless, cyanosis increases, gasping respirations ensue, and syncope may follow The spells occur most frequently in the morning on initially awakening or after episodes of vigorous crying A systolic thrill may be felt along the left sternal border in the third and fourth parasternal spaces Loud and harsh Systolic murmur along left sternal border

66. Diagnosis Chest x-ray: B oot or wooden shoe (“coeur en sabot”), diminished pulmonary blood flow C onsists of a narrow base, concavity of the left heart border in the area usually occupied by the pulmonary artery, and normal overall heart size ECG shows right-axis deviation and evidence of RVH E cho establishes the diagnosis and shows the extent of all lesions Echo help determin e if a PDA is supplying a portion of the pulmonary blood flow

67. TOF: CXR

68. Treatment Prostaglandin E1 (PGE1; 0.05-0.1 μg/kg/min), a potent and specific relaxant of ductal smooth muscle To cause dilation of the ductus arteriosus and Provide adequate pulmonary blood flow until a surgical procedure Prevention or prompt treatment of dehydration to avoid hemoconcentration and possible thrombotic episodes Vasodilators, Diuretics, Beta blockers Corrective open heart surgery performed in early infancy (or even in the newborn period in critically ill infants)

69. Complications (If No Tx) Polycythemia Cerebral Thrombosis Brain Abscess Bacterial Endocarditis Associated Anomalies PDA Right Aortic Arch DiGeorge Syndrome

70. Transposition of the Great Arteries (TGA) D-Transposition of the Great Arteries The aorta arises from the right ventricle and the PA from the left ventricle. the aorta is anterior and to the right of the pulmonary artery the systemic and pulmonary circulations exist as two parallel circuits Survival in the immediate newborn period is provided by the PFO and PDA About 50% of patients have VSD Without corrective or palliative surgery, mortality is >90% in the 1st yr of life

71. D-TGA… Normal heart D-TGA

72. D-TGA… Clinical manifestation: The newborn is notably cyanotic from birth (Starting from first hours or days) Usually no heart murmur is noted unless murmur of VSD Severe hypoxia and acidosis When a large ASD is present, infants have good arterial oxygen saturation CHF during the first week of life

73. Its medical Emergency Physical findings, other than cyanosis, may be remarkably nonspecific The precordial impulse may be normal, or a parasternal heave may be present The second heart sound (S2) is usually single and loud, although it may be split Murmurs may be absent, or a soft systolic ejection murmur may be noted at the mid-left sternal border

74. Diagnosis Chest X-ray: mild cardiomegaly and a narrow mediastinum (the classic “egg-shaped heart”) Echocardiography is diagnostic and confirms the transposed ventricular-arterial connections The presence of any associated lesion, such as left ventricular outflow tract obstruction or a VSD, can also be assessed

75. Treatment Initiate Prostaglandin E1 (0.05-0.1 μg/kg/min) immediately to maintain PDA when transposition suspected If still severely hypoxic or acidotic despite prostaglandin, should undergo Rashkind balloon atrial septostomy(Widen PFO) Arterial switch (Jatene) procedure (surgical) is treatment of choice for neonates with d-TGA and an intact ventricular septum It is usually performed within the first 2 weeks of life

76. L-Transposition of the Great Arteries (Corrected Transposition) Atrioventricular and the ventriculoarterial relationships are discordant Right atrium is connected to an LV and the left atrium to an RV, which is also known as ventricular inversion The great arteries are also transposed, with the aorta arising from the RV and the pulmonary artery from the LV In contrast to d-TGA, the aorta arises to the left of the pulmonary artery (thus the designation l for levo-transposition)

77. The double inversion of the atrioventricular and ventriculoarterial relationships result in: Desaturated right atrial blood flowing to the lungs and oxygenated pulmonary venous blood flowing to the aorta The circulation is thus physiologically “corrected” Without other defects, the hemodynamics would be almost normal Associated common lesions: VSD, Ebstein-like abnormalities of the left-sided atrioventricular (tricuspid) valve, pulmonary valvular or subvalvular stenosis (or both), atrioventricular conduction disturbances etc

78. L-TGA…

79. Clinical Manifestations Symptoms and signs are widely variable and are usually determined by the associated lesions If there is a VSD and pulmonary outflow is unobstructed, the clinical signs are similar to those of an isolated VSD If l-TGA is associated with pulmonary stenosis and a VSD, the clinical signs are more similar to those of tetralogy of Fallot

80. Diagnosis & Treatment Chest radiograph: May suggest the abnormal position of the great arteries; Aorta occupies the upper left border of the cardiac silhouette and has a straight profile. Echocardiogram is diagnostic: Presence of AV discordance (right atrium connected to LV; left atrium to RV) and Ventriculoarterial discordance (RV connected to aorta; LV to pulmonary artery) Surgical treatment of the associated anomalies, most often the VSD

81. Eisenmenger Syndrome ( P ulmonary vascular disease) B lood is shunted partially or totally from right to left as a result of the development of pulmonary vascular disease O ccur with AV-septal defect, VSD, PDA and others The pathologic changes of Eisenmenger syndrome occur in the small pulmonary arterioles and muscular arteries

82. Clinical Manifestations Symptoms usually after second or third decade of life, although a more fulminant course may occur Cyanosis , dyspnea, fatigue, and a tendency toward dysrhythmias begin to occur as PVR exceeds and shunt changes direction In the late stages of the disease, heart failure, chest pain, headaches,syncope, and hemoptysis may be seen RV heave, P2 accentuated, Holosystolic TR murmur

83. Diagnosis & Treatment Chest x-ray: prominent PA, prominent RV and RA, enlarged pulmonary vessels in the hilar , Cardiomegaly The ECG shows marked RVH Cyanotic patients have various degrees of polycythemia that depend on the severity and duration of hypoxemia Echo shows a thick-walled right ventricle and demonstrates the underlying congenital heart lesion

84. Treatment Prevention by early surgical elimination of large intracardiac or great vessel communications during infancy PO medications: Aspirin to prevent thrombotic compl, allopurinol for gout, iron for microcytosis, diuretics & digitalis for heart failure Combined heart lung or bilateral lung transplantation is the only surgical option for many of these patients Heart-lung transplantation may be the option if there is associated complex congenital heart disease

85. References Nelson text book of pediatrics, 21 th & 22 th ed Uptodate 20.3 Nelson essentials of pediatrics, 6 th ed. Pediatric Cardiology for Practitioners, 5th ed. 2008 Medscape https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7050589/

86. Thank you