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Congenital heart diseases

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Congenital heart diseases

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The lecture is for medical student. It is from Dr RUSINGIZA Emmanuel, MD, senior lecture at UR( UNIVERSITY OF RWANDA) .
It will help to understand heart diseases in newborn, infants and children.

The lecture is for medical student. It is from Dr RUSINGIZA Emmanuel, MD, senior lecture at UR( UNIVERSITY OF RWANDA) .
It will help to understand heart diseases in newborn, infants and children.

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Congenital heart diseases

  1. 1. CONGENITAL HEART DISEASES (CHD) Dr. Emmanuel RUSINGIZA
  2. 2. Objectives  Understand the fetal circulation and changes that occur at birth  Understand the basic pathophysiology and the clinical presentation and of common CHD  Suggest the appropriate management of common CHD in children
  3. 3. OUTLINE 1. FETAL & PERINATAL CIRCULATION 2. COMMON MALFORMATIONS & SYNDROMES WITH CARDIOVASCULAR INVOLVEMENT. 3. ACYANOTIC HEART DISEASES 3.1 VENTRICULAR SEPTAL DEFECT 3.2 ATRIAL SEPTAL DEFECT 3.3 ATRIOVENTRICULAR SEPTAL DEFECT 3.4 PATENT DUCTUS ARTERIOSUS
  4. 4. Outline… 4. COARCTATION OF AORTA 5. PULMONARY VALVULAR STENOSIS 6. CYANOTIC CONGENITAL HEART DISEASES 6.1 TETRALOGY OF FALLOT 6.2 D-TRANSPOSITION OF GREAT ARTERIES 6.3 OTHER CYANOTIC HEART DEFECTS
  5. 5. FETAL CIRCULATION  Is integral part of understanding pathophysiology, clinical manifestations and natural history of CHD  Arranged in parallel,  Exchange of gases and nutrients in placenta, has the lowest vascular resistances in the fetus  RV delivering the majority of its output to the placenta for oxygenation,  LV : heart, brain, and upper part of the body. This parallel circulation permits fetal survival despite a wide variety of complex cardiac lesions.
  6. 6. Fetal circulation…  Blood returning from the placenta via the umbilical vein;  Some of it: into the hepatic veins and the portal system of the liver, whereas the remainder passes through the ductus venous into the inferior vena cava.
  7. 7. Fetal circulation…  About 40% of the blood returning from the inferior vena cava passes across the foramen ovale into the left atrium;  Pulmonary arteries: High resistance due to fluid –filled lungs and constricted pulmonary arterioles.  Almost 90% of pulmonary flow, passes through the open ductus arteriosus into the
  8. 8. Transitional circulation at birth >>> Circulation from parallel to serial (gas exchange in the lungs). Failure of any one of complex series that take place within minutes of birth leads to generalized hypoxemia and brain damage or death. Removal of the placenta results:  Incre asing o f syste m ic re sistance  Cessation of blood flow in the umbilical vein, closure of ductus venosus  Re ductio n in the pulm o nary vascular re sistance  Functional closure of the foramen ovale  Closure of ductus arterious  Incre asing o f syste m ic flo w
  9. 9. Chro m o so m a lsyndro m e s Chro m o so m al Syndro m e s (fre q ue nce o f he a rt m alfo rm a tio ns) He art de fe ct Down syndrome (50%) AV septal defect, VSD, ASD, PDA, TOF Trisomy 18 (90%) VSD, ASD, AV septal defect, PDA Trisomy 13 (90%) VSD, ASD, AV septal defect, unique ventricle Trisomy 22(50%) VSD, ASD, PDA Ge ne tic a bno rm alitie s Syndro m e (lo calisatio n) He art de fe ct Di George (22q11) Troncus arteriosus, TOF, inter of aortic arch Holt-Oram(12q24) ASD Noonan (12q) Pulmonary stenosis, ASD, cardiomyopathy Williams Beuren (7q11.23) Supra-aortic stenosis CHROMOSOMAL AND GENETIC ABNORMALITIES with Cardiac involvement
  10. 10. NON CYANOTIC CONGENITAL HEART DISEASES  1. VENTRICULAR SEPTAL DEFECT (VSD).
  11. 11. VENTRICULAR SEPTAL DEFECT .    Dehiscence of interventricular septum  most common lesion seen in congenital heart diseases (30%).  Ventricular defect may be located anywhere in the ventricular septum,  may be single or multiple, and may be of variable size and shape.
  12. 12. Anatomic types of VSDs  muscular, (5-6)  membranous, (1-2-3)  Infundibular (7), sub- aortic (8)  Endocardial cushion (4).
  13. 13. VSD… Anatomy 4 types of VSD according to their location: • Me m brano us de fe ct: jonction tricuspid- aortic valves • Muscular de fe ct: may be located anywhere in the apical, mid, anterior, or posterior muscular septum and are often multiple.
  14. 14. VSD…  Infundibular de fe ct: Located under the pulmonary valve when viewed from the right ventricle and are immediately beneath the aortic valve when viewed from the LV.  Endo cardialcushio n de fe ct: located beneath the tricuspid valve, extending to the tricuspid valve ring.
  15. 15. VSD… Physiology • Size of the defect and the pulmonary vascular resistance determine the hemodynamic: left to right shunting through the ventricular defect begins and increases in the first weeks of life. • The bulk of shunting occurs in systole, with lesser amounts in diastole. • Symptoms are determined by the size of the shunt: With a large effect, such heart failure can occur within days of birth, but is usually delayed until the third week of life.
  16. 16. VSD… Symptoms: • Tachypnea, sweating • Failure to thrive (poor caloric intake and increased oxygen consumption due to excessive work of the heart and lungs). • Recurrent respiratory infections Physical examination: depends up on amount of left to right shunting. - Polypnea - Hyperdynamic impulse, rapid - Systolic murmur at low sternal border - Pulmonary crepitations are often due to infection or atelectasis and no pulmonary oedema.
  17. 17. VSD… Investigations:  Electrocradiogram o Normal in case of small VSD o Left ventricular hypertrophy o High right ventricular pression    Chest X-ray: o Cardiomegaly o Increased pulmonary vascular marking  Echocardiography: Confirms the diagnosis    Cardiac catheterization o Rarely necessary since arrival of echocardiography. o Used often to quantitate pulmonary vascular resistance and study resistance responses to vasodilators. Antenatal diagnosis: possible!!!
  18. 18. Pro g no sis & Co m plicatio ns  30-50 % of small VSDs will close spontaneously , most frequently during the 1st year of life  Majority of defects that close will do so before age 4 years  One of the long term risks for these patients is that of infe ctive e ndo carditis.
  19. 19. It is less common for moderate or large VSD to close spontaneously , even defects large enough to result in H.F.(manifested in infants as F.T.T.) may become smaller & rarely will close completely. Recurrent chest infections , C.H.F. and pulmonary hypertension in large defects leading to pulmonary vascular obstructive disease = EISENMENGER Syndrome.
  20. 20. Treatment (small defects) - Reassure parents - surgical repair is not recommended - Protection against infective endocarditis - Follow up screening for pulmonary HTN
  21. 21. Treatment (large defects) Two aims : -control CHF -prevent development of pulmonary vascular disease. •Medical: Lasix and captopril •Feeding (high calories) Surgical closure for large defects between 6 & 12
  22. 22. 2. ATRIAL SEPTAL DEFECT (ASD)
  23. 23. ATRIAL SEPTAL DEFECT • 8% of congenital heart diseases. • Anatomy and physiology: o single or multiple. o Involves three structures: the septum primum, septum secundum and atrioventricular canal septum o The amount of shunting : left ventricular compliance. o Although most infants with ASD are asymptomatic, a few numbers develop congestive heart failure and growth failure. o Older patients may develop pulmonary vascular disease. In general, this is rare before 20 years.
  24. 24. ASD… Clinical manifestations  The lack of symptoms and the lack of readily heart murmur account for the delay in discovering  A few small infants and many older adults present with congestive heart failure. Physical examination: o Left parasternal bulge evidence o Fixed splitting interval o Ejection pulmonary systolic murmur, absent occasionally o Diastolic rumble at the left lower sternal border.
  25. 25. ASD… 1. Electrocardiography:  Incomplete right bundle branch block  RVH (rarely) 2. Chest X-Ray:  Cardiomegaly proportionate to the amount of shunting and the pulmonary vascularity.
  26. 26. ASD… 3. Echocardiography: confirms the diagnosis Others exams: • Catheterization in case of doubt on abnormal pulmonary veins, pulmonary hypertension and ASD closure. • MRI: helpful in patient with a known or suspected ASD, usually adolescent and adult with inconclusive clinical and echocardiographic findings.
  27. 27. ASD… Treatment:  Medical treatment in case of congestive heart failure, with diuretics;  Surgical repair or closure by device (Amplatzer…).
  28. 28. 3. ATRIOVENTRICULAR SEPTAL DEFECTS (AVSD)
  29. 29. ATRIOVENTRICULAR SEPTAL DEFECTS Abnormalities grouped together because they represent a spectrum of a basic embryologic abnormality: a. Partialatrio ve ntricular se ptalde fe ct  ostium primum defect is situated in the lower portion of the atrial septum and overlies the mitral and tricuspid valves.  cleft in the anteriorleaflet of the mitral valve . The ventricular septum is intact.
  30. 30. b. Co m ple te AVse ptalde fe ct, also known as an AV canal defect or an endocardial cushion defect: - Ostium primum defect - Absence of AV septum - ventricular septal defects with markedly abnormal AV valves. The severity of the valve abnormalities varies considerably; in the complete form of AV septal defect, a sing le atrio ve ntricular valve is co m m o n to both ventricles with a lateral leaflet in each
  31. 31. AV septal defect
  32. 32. AV septal defect
  33. 33. common in children with Down syndrome
  34. 34. Pathophysiology Partialatrio ve ntricular se ptalde fe ct.  Basic abnormality: ostium primum and a left-to- right shunt across the atrial defect and mitral.  Shunt is usually moderate to large,  The degree of mitral insufficiency is generally mild to moderate,
  35. 35.  Pulmonary arterial pressure is typically normal or only mildly increased. >> The physiology is therefore similar to that of an ostium secundum ASD.
  36. 36. Pathophysiology Co m ple te atrio ve ntricular se ptalde fe ct.  L-R shunt occurs at both the atrial and ventricular levels.  Additional shunting may occur directly from the left ventricle to the right atrium because of absence of the AV septum.  Pulmonary hypertension and an early tendency to increase pulmonary vascular resistance are common.
  37. 37.  AV valvular insufficiency increases the volume load on one or both ventricles.  Some R-L shunting may also occur at both the atrial and ventricular levels and lead to mild arterial desaturation.  With time, progressive pulmonary vascular disease increases the right-to-left shunt so that clinical cyanosis develops (Eisenmenger).
  38. 38. Clinicalm anife statio ns .  Ostium primum defects: asymptomatic (anomaly is discovered during a general physical examination.  Moderate shunts and mild mitral insufficiency, the physical signs are similar to those of the secundum ASD, but with an additional apical murmur caused by mitral insufficiency.
  39. 39. Clinical manifestation… A following history may be abtained:  exercise intolerance,  easy fatigability,  recurrent pneumonia especially in infants with large left-to-right shunts and severe mitral insufficiency.
  40. 40. Complete AV septal defects:  Heart failure and intercurrent pulmonary infection in infancy with minimal cyanosis.  Failure to thrive  Enlarged liver
  41. 41.  Systolic murmur in the lower left sternal border.  2nd heart sound is widely split if the pulmonary flow is massive and a pulmonary systolic ejection murmur is produced by the large pulmonary flow.  Apical holosystolic murmur of mitral insufficiency may also be present.
  42. 42. Diagnosis  Chest X-ray in complete AV septal defects often show: - moderate to severe cardiac enlargement caused by the prominence of both ventricles and atria. - large pulmonary artery and increased pulmonary vascularity.
  43. 43. Diagnosis…  ECG : - QRS axis with left axis deviation to the left upper or right upper quadrant, - signs of biventricular hypertrophy or isolated right ventricular hypertrophy, - right ventricular conduction delay (RSR′ pattern in leads V3 and V1), - normal or tall P waves, and occasional prolongation of the P-R interval .
  44. 44. Diagnosis…  Echocardiogram confirms the diagnosis  Cardiac catheterisation: rarely indicated
  45. 45. Treatment  Medical treatment as large VSD  Surgical repair because of the risk of pulmonary vascularobstructive disease developing as early as 6–12 mo of age,  Correction in infancy (3-6 months),  Palliation with pulmonary arterial banding: patients who have other associated lesions that make early corrective surgery too risky.
  46. 46. 4. PATENT DUCTUS ARTERIOSUS
  47. 47. PATENT DUCTUS ARTERIOSUS  Etiologies: - Prematurity - Congenital rubella - Higher altitude
  48. 48. Anatomy  Ductus arteriosus connects the origin of the left main pulmonary to the aorta, just below the left subclavian artery.  The ductus closes through muscular constriction a few hours after birth.
  49. 49. Physiology Excessive blood flow to the lungs, left atrium, left ventricle and ascending aorta with enlargement of this structures in proportion to the size of left-to-right shunt.
  50. 50. Clinical manifestations: L-R shunting  Tachypnea,  Dypnea with intercostals or subcostal retractions,  Hepatomegaly  growth failure  prominent arterial pulsations (present when large ductus arteriosus).
  51. 51. Investigations  EKG : shows LV hypetrophy  Chest X-Ray: cardiomegaly and enlargement of pulmonary vessels  Echocardiography: confirms the diagnosis
  52. 52. Investigations…  Cardiac catheterization: necessary in case of uncertain diagnostic and for studying pulmonary resistance response to vasodilatators (oxygen and nitric oxide).  Used also for transcutaneous closure by devices
  53. 53. Ste nting o f narro we d PDAto the patie nt pre se nting se ve re cyano sis o n PAVSD.
  54. 54. Ductus arteriosus in premature Infants    Fonctional closure of the ductus arteriosus occurs in some 90% of full-term newborns within a couple of days.  In premature infants: ductus persists in many with those of clinical significance being more common in the smallest babies, with respiratory distress syndrome.
  55. 55.  Maternal rubella is among etiologies of patent ductus arteriosus. Treatment:  Indomathacine or ibuprofen  Surgical ligation or closure
  56. 56.  OTHER  L to R shunts
  57. 57. COARCTATION OF AORTA  Def: obstruction in the descending aorta located almost invariably at the insertion of the ductus arteriosus.  Represents about 6% of congenital heart diseases.  The diagnosis is essentially clinic, based on the absence or weakness of femoral pulse compared to humeral ones.
  58. 58. Coarctation of Aorta  Neonates with severe coarctation of the aorta may present very ill with sudden onset of heart failure within weeks of birth after closure of ductus arteriosus.  The frequent malformation in coarctation of aorta is Turnersyndrome (20%).
  59. 59. Clinical manifestations  Signs of heart failure in case of severe coarctation (before the 14th day of life) with tachypnea, tachycardia, pulseless and acidosis.  Decreased or absence of femoral pulses, hypertension, decreased BP in lower limbs.  Sub-clavian systolic murmur irradiating to the back.
  60. 60. Investigations  Chest X-ray: normal in most of the cases  ECG: LV hypertrophy  Echocardiography: confirmation of the obstacle with Doppler and assessment of the LV contractility.  CT scan and RMI in big child
  61. 61. Management  A severe coarctation of aorta with signs of heart failure is a surgical emergency (Crafoord intervention).
  62. 62. PULMONARY VALVAR STENOSIS  Accounts for 7–10% of all congenital heart defects.  Pulmonary stenosis as a result of valve dysplasia is the most common cardiac abnormality in Noonan syndrome
  63. 63. Pathophysiology  The obstruction to outflow from RV to the pulmonary artery: increased systolic pressure and wall stress, leads to hypertrophy of the RV  Severity of these abnormalities depends on the size of the restricted valve opening.
  64. 64. Clinical manifestations  moderate stenosis usually do not have any symptoms.  stenosis is severe, signs of right ventricular failure such as:  Hepatomegaly ( with hepatojugular reflux in older children)  peripheral edema,
  65. 65. Clinical manifestations… -   exercise intolerance may be present - loud, long, and harsh systolic ejection murmur: usually accompanied by a thrill, is maximally audible in the pulmonic area  In a neonate or young infant with critical pulmonic stenosis, signs of RV failure may be more prominent, and cyanosis is often present because of shunting at the foramen ovale.
  66. 66. Investigations:  Electrocardiogram: RVH and tall P wave.  Radiography: cardiac enlargement. Prominence of the main pulmonary artery segment may be seen. Intrapulmonary vascularity is decreased.  Echocardiogram shows severe deformity of the pulmonary valve and right ventricular hypertrophy.  Cardiac catheterization for balloon valvuloplasty procedure.
  67. 67. Treatment  Balloon valvuloplasty  Surgery intervention for Noonan syndrom (severily thickened valves)
  68. 68. CYANOTIC HEART DISEASES
  69. 69. TETRALOGY OF FALLOT Cyanotic congenital heart malformation comprising:  infundibular pulmonary stenosis,  conoventricular septal defect(VSD),  dextroposition of the aorta such the aortic root overrides the crest of the ventricular septum  RV hypertrophy.
  70. 70. Tetralogy of Fallot…  Most common cyanotic cardiac defect with an incidence of 3.26 per 10.000 live births.  Patients with TOF present sometimes chromosomal abnormalities (22q11.2 microdeletion).
  71. 71. Di Georges Syndrom
  72. 72. Physiology  Cyanosis due to R-L shunt at the ventricular level.  The volume of the ventricular R-L shunt, and hence the degree of cyanosis, is directly proportional to the severity of right ventricular outflow obstruction.
  73. 73. Pathophysiology…  Neonates with very mild obstruction of the infundibulum may have normal systemic arterial oxygen saturation and are said “pink tetralogy”.  There is a tendency in the TOF for subpulmonary obstruction, and hence cyanosis, to increase as the children grow.
  74. 74. Pathophysiology…  Dynamic factors may serve to further compromise pulmonary blood flow, increase R-L shunting, and worsen cyanosis in TOF.  Spasm of the sub-pulmonary infundibulum will have such effect, as will increase in pulmonary vascular resistance (crying) or decrease in systemic vascular resistance (exercise).  Catecholamine stimulation of RV mechano- receptors has also been postulated to increase R-L shunting = hype rcyano tic spe lls.
  75. 75. Clinical manifestations  Cyanosis (in function of the RV outflow obstruction, may be inapparent in neonate), increasing with growth.  Systolic ejection murmur of pulmonary stenosis  Chronic cyanosis is associated with clubbing fingers and toes, may also cause delayed physical growth and diminished cognitive function.
  76. 76.  Hypercyanotic spells: hallmark of tetralogy of Fallot! o In a typical spell, the child becomes distressed and inconsolable, without apparent reason, most often in the morning. Older children adopt “squatting” position to compensate the malaise. o Crying is associated with progressively deeper cyanosis and hyperpnea, o Auscultation during the spell reveals a notably diminished or even absent murmur. o Not infrequently, the spell terminates with unconsciousness and, rarely, convulsions. o If the hypoxemia is extreme, permanent neurologic sequelae and even death may occur. Clinical manifestations…
  77. 77. Investigations  ECG: shows RVH and right axis deviation  Chest X-ray: normal heart size, decreased pulmonary vascularity. The apex of the heart is often elevated owing to RV hypertrophy with aspect «boot shape” or ”Coeur en sabot”.  Absence of thymus shadow in the newborn indicate associated DiGeorge syndrome.
  78. 78. Investigations…  Echocardiography: confirms the diagnosis and associated lesions.  Cardiac catheterization: limited indications in case of pulmonary atresia, abnormal coronary artery.
  79. 79. Complications  Cerebral thrombosis : common in extreme polycythemia and dehydration.  Brain abcess  Bacterial endocarditis
  80. 80. Management:  Preventive treatment: Iron to prevent microcytosis  Hypercyanotic spells:  Position of infant on abdomen in a knee-chest position  O2  Rehydration with colloid  Morphine sulfate SC or IM only if a ventilator is available  Propranolol IV 0.1mg/kg slow  Sodium bicarbonate 8.5% IV slow to correct acidosis  Oral propranolol 0.5mg/kg 4 times/day for maintenance.
  81. 81. Management…  Surgical repair between 3-6 months but indication if the patient presents hypercyanotic spells.  Rare newborns with critical RV outflow obstruction and inadequate aorto-pulmonary collaterals may be ductus arteriosus dependent and require prostaglandin E1 before a Blalock Taussig shunt.
  82. 82. Balock Taussig Shunt
  83. 83. D-TRANSPOSITION OF GREAT ARTERIES  D-TGA with an intact ventricular septum is also referred to as simple TGA or isolated TGA.  Before birth, oxygenation of the fetus is nearly normal,  After birth, once the ductus begins to close, blood via the FO usually insufficient and severe hypoxemia ensues, generally within the 1st few days of life.
  84. 84. CLINICAL MANIFESTATIONS  Cyanosis and tachypnea are most often recognized within the 1st hrs or days of life.  Hypoxemia is usually severe, but heart failure is less common.
  85. 85. Clinical manifestations…  Medical emergency, only early diagnosis and appropriate intervention can avert the development of prolonged severe hypoxemia and acidosis, which lead to death.  Physical findings associated with cyanosis may be nonspecific (no murmur).
  86. 86. Investigations.  ECG : neonatal right-sided dominant pattern.  Roentgenograms of the chest may show mild cardiomegaly, a narrow mediastinum (hence an “egg-shaped” heart, generally normal in early newborn.  Echocardiography confirms the transposed ventricular-arterial connections and associated lesions.  Cardiac catheterization: in patients who require
  87. 87. Treatment  Infusion of prostaglandin E1 to maintain patency of the ductus arteriosus and improve oxygenation  Rashkind balloon atrial septostomy.  Arterial switch (Jantene operation) is performed within the 1st 2 wk of life.
  88. 88. Rashkind m ane uve r and ste nting o f ASD to the patie nt adm itte d with se ve re cyano tic he art dise ase (be fo re surg e ry).
  89. 89. Surgery: Arterial switch
  90. 90. OTHER CYANOTIC CHD
  91. 91. Pulmonary atresia

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