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Natural history of common congenital heart diseases

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Natural history of common congenital heart diseases

Most infants with ASDs are asymptomatic

They may present at 6 to 8 weeks of age with a soft systolic ejection murmur and possibly a fixed and widely split S2

CHF rare in the first decades of life but it can become common once the patient is older than 40 yrs

Most infants with ASDs are asymptomatic

They may present at 6 to 8 weeks of age with a soft systolic ejection murmur and possibly a fixed and widely split S2

CHF rare in the first decades of life but it can become common once the patient is older than 40 yrs

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Natural history of common congenital heart diseases

  1. 1. DR. JEETHENDER JAIN Nizam’s Institute of Medical Sciences, Hyderabad. jeetu_jain24@yahoo.com
  2. 2.  ASD  VSD  PDA  TOF  CONGENITAL AS  CONGENITAL PS  COARCTATION OF AORTA  EBSTEINS ANOMALY  CCTGA
  3. 3.  spontaneous diminution in size,  remain stable for many years,  operative or catheter based closure,  go on to develop progressive pulmonary vascular obstruction.
  4. 4. Samanek M et al. Pediatr Cardiol1999;20:411–7
  5. 5.  The natural history depends on Size of the defect Rt. & Lt. ventricular diastolic compliance Pulmonary-to-systemic vascular resistance
  6. 6.  Shunt direction & magnitude are variable and age dependent  In fetal life, RV noncompliance, a result of high pulmonary vascular resistance, allows nearly unidirectional right-to-left flow at the atrial level  Immediately after birth, with RV compliance comparable to that of the LV, there may be little net shunting through ASD  With the physiological fall in pulmonary vascular resistance, the RV thins, compliance increases, left-to-right shunt develops
  7. 7.  Hemodynamic/anatomic abnormalities resulting from a secundum atrial septal defect include Right ventricular and atrial volume overload Pulmonary vascular obstructive disease Tricuspid valve and/or pulmonary valve regurgitation Supraventricular tachyarrhythmias
  8. 8.  Most infants with ASDs are asymptomatic  They may present at 6 to 8 weeks of age with a soft systolic ejection murmur and possibly a fixed and widely split S2  CHF rare in the first decades of life but it can become common once the patient is older than 40 yrs
  9. 9.  With similarly sized ASDs, adults have larger shunts  Four common clinical presentations of ASD in adult  Progressive shortness of breath with exertion  Pulmonary vascular obstructive disease  Atrial arrhythmia  stroke or other systemic ischemic event
  10. 10.  Spontaneous closure most likely in  ASDs <7 to 8 mm  Younger age at diagnosis  A review of 101 infants -mean age of diagnosis 26 days average follow-up of 9 months.  Spontaneous closure in all 32 ASDs <3 mm  87% of 3- to 5-mm ASDs  80% of 5- to 8-mm ASDs  None of 4 infants with defects >8 mm Radzik D, et al. J Am Coll Cardiol. 1993;22:851-853.
  11. 11. Conclusion  no follow-up -if a defect is <3 mm.  defect 3- 5 mm - evaluated by the end of the 12th month by which time >80% of the defects will be closed  defect 5 -8 mm, evaluated by the end of the 15th month, by which time >80% of the defects will be closed
  12. 12.  Uncommon in ASD  Incidence is 5% to 10% of untreated ASDs  Predominantly in females  Sinus venosus ASDs have higher pulmonary artery pressures & resistances than patients with secundum Vogel M et al. Heart 1999; 82: 30–3.
  13. 13.  Atrial arrhythmia may be the first presenting sign (13% in older than 40 & 52% in older than 60 yrs of age)  Prevention of Atrial arrhythmia is one of the reasons for repairing ASD in young asymptomatic patients (Silversides CK et al. Heart. 2004;90:1194 –1198.)  Subsequent development of AF may depend more on the patient’s age at intervention and may occur despite surgery in patients > 25 years of age St. John Sutton MG,et al. Circulation 1981;64:402-409. Murphy JG, et al. N Engl J Med. 1990;323:1645–1650
  14. 14.  Berger et al. reported an atrial fibrillation prevalence of  15% in those 40–60 years of age  61% among those older than 60 years.
  15. 15.  Craig and Selzer in 1968 studied 128 adult patients  Significant PAH developed in 22% of the series  This complication usually develops when the patient is between 20 and 40 years of age  Cherian et al studied 709 pts.of isolated ASD  PASP was > 50 mmHg in 17%  PAH was present in 13% of patients under 10 yrs  14% of those aged 11 to 20 years  Eisenmenger syndrome 9% Craig RJ et al. Circulation 1968; 37: 805–15. Cherian G et al. Am Heart J 1983; 105: 952–7.
  16. 16.  Evidence of Rt. sided cardiac volume loading,Qp:Qs > 1.5:1  Symptomatic patients (principally exercise related)  PVR < 7 WU – closure is usually well tolerated  Need to be mindful of elevated LVEPD  Pts may need diuretic therapy after closure  For PVR >7 WU and PA pressures >50%  need to perform O2 and NO study
  17. 17.  Elective repair frequently has been deferred until the child is at least 4 years of age.  Early operation has been recommended for those infants and young children who have unremitting heart failure or associated pulmonary hypertension  contraindication :-  pulmonary hypertension with Rt. to Lt shunting at rest  Pulmonary vascular resistance of 14 WU
  18. 18.  Most common congenital heart defect in children  Incidence is 8 per 1000 live births  Echo studies- 5 to 50 per 1,000 newborns Ooshima A et al. Cardiology 1995;86:402-406.  No sex preference , except in subarterial defect
  19. 19. ASIAN WESTERN  Doubly commited subarterial  Multiple ventricular septal defects are rare  Doubly-commited subarterial defect requiring repair is 30%  Muscular defects  10% in the west  5% in western Ferreira Martins JD et al.Cardiol Young 2000; 10: 464–
  20. 20.  Soto et al classification of VSD  Perimembranous (membranous/ infracristal )-70-80%  Muscular- 5-20%  Central- mid muscular  Apical  Marginal- along RV septal junction  Swiss cheese septum – multiple defects  Inlet/ AV canal type-5-8%  Supracrital (Conal/ infundibular/subpulmonary/doubly committed subarterial)- 5-7% Benigno soto et al. Br HeartJ 1980; 43: 332-343
  21. 21.  Anterior more common than posterior  Usually involves the infundibular septum  Occurs as if there is a door that moves round on a hinge
  22. 22.  The outcome and natural history influenced by Position & Size Number of defects Anatomic structures in the vicinity of the defect Association of other malformation Age at which the defect is recognized Sex of the patient
  23. 23.  Cardiac failure  Spontaneous diminution in size or closure  Right or Left ventricular outflow tract obstruction  Aortic regurgitation  Pulmonary vascular obstructive disease  Infective endocarditis
  24. 24. Rare in small VSD as size limits the L-R shunt In large VSD the relative resistances of the systemic and pulmonary circulations regulate flow Shunt occurs mainly in systole Shunt directly to PA Enlargement of LA, LV,PA
  25. 25.  After birth decline in PVR to adult level by 7to 10 days  In large VSDs, the rate of this process is delayed  Small VSD the shunt is small & remain asymptomatic  Moderate sized VSD symptoms by 1to 6 months  Rarely, adults present with new exercise intolerance .) Rudolph AM, et al.Pediatrics 1965;36:763-772.
  26. 26.  Large VSD -congestive heart failure in first few weeks  Risk for recurrent pulmonary infection high  If survives without therapy - pulmonary vascular disease develop in the first few years of life  Symptoms “get better” as Qp/Qs returns to 1:1  Intervention at this time - a shorter life expectancy than if the defect were left open Fuster V, et al.Cardiovasc Clin. 1980;10:161–197.
  27. 27. Nir A et al.Pediatr Cardiol 1990; 11: 208–10.
  28. 28. SPONTANEOUS CLOSURE : An inverse relation exists between the probability of spontaneous closure and age at which the patient is observed (Hoffman and rudolph) Age % of spontaneous closure 1 month 80% 3 months 60% 6 months 50% 12 months 25% Adolescence 23% (Onat and colleagues) Between 21 – 31 yrs only 1 documented case
  29. 29.  More frequent in <10 yrs of age  Isolated VSD ( 124 pts) - 34% at 1 yr & 67% at 5 yr  Female predominance  Decreases substantially after 1 year of age Mehta AV et al. Tenn Med 2000; 93: 136–8. Farina MA et al . J Pediatr 1978; 93: 1065–6. Moe DG et al. Am J Cardiol 1987; 60: 674–8.
  30. 30.  Rare in malaligned VSD  In outlet VSD closure only in 4% All of the defects closed were initially < 4 mm Tomita H et al. Jpn Circ J 2001; 65: 364–6
  31. 31.  Different for perimembranous and muscular  Perimembranous Reduplication of tricuspid valve tissue Progressive adherence of the septal leaflet of the tricuspid valve about the margins of the VSD Aneurysmal transformation of the membranous septum (appearance on angiography) Early systolic click & late crescendo systolic murmur Anderson RH et al . Am J Cardiol 1983; 52: 341–5. Freedom et al. Circulation 1974; 49: 375–84.
  32. 32.  Muscular- direct apposition of muscular borders  Large subarterial defect don’t close A. Closure of a perimembranous defect by adhesion of the tricuspid leaflets to the defect margin. B. Closure of a small muscular defect by a fibrous tissue plug. C. Closure of a muscular defect by hypertrophied muscle bundles in the right ventricle D. Closure of a defect in subaortic location by adhesion of the prolapsed aortic valve cusp
  33. 33.  Incidence 3% to 7%.  Mechanism:-  Hypertrophy of malaligned infundibular septum  Hypertrophy of right ventricular muscle bundles  Prolapsing aortic valve leaflet  High incidence in Right sided aortic arch Horizontal RVOT Nadas AS et al . Circulation 1977; 56(No.2, Suppl. I): 1–87. Corone P et al. Circulation 1977; 55: 908–15. Pongiglione G et al . Am J Cardiol 1982; 50: 776–80. Varghese PJ et al . Br Heart J 1970; 32: 537–46. Tyrrell MJ et al. Circulation 1970; 41 & 42(Suppl. III): 113.
  34. 34.  VSD with direct contact with the aortic valve are most prone to develop AVP All the perimembranous defects All doubly committed juxtaarterial defects Most of muscular outlet defects  Characteristic deformity of aortic cusp-nadir of the cusp is elongated
  35. 35.  RCC (60-70%) , NCC (10-15%) , both in 10-20%  Non-coronary cusp prolapse in perimembranous type  Left coronary cusp prolapse extremely rare  AR may be due to incompetent bicuspid aortic valve  Rarely prolapsed valve cusp may perforate
  36. 36. Komai H et al.Ann Thorac Surg 64:1146-1149, 1997
  37. 37.  Unknown exact prevalence (2% to 7%)  Rare before 2 years  More severe - additional volume load  Aneurysm of sinuses of Valsalva may develop Nadas AS et al . Circulation 1977; 56(No.2, Suppl. I): 1–87.
  38. 38.  Indicated for both perimembranous and subarterial VSDs when more than trivial AR  Subarterial VSDs >5 mm - closed regardless of AVP  Restrictive perimembranous VSD with AVP but without AI, surgery indications are less clear Follow up regularly Surgery is indicated only if AI develops Elgamal MA et al . Ann Thorac Surg 68:1350-1355, 1999 Lun K et al. Am J Cardiol 87:1266-1270, 2001 Gabriel HM et al. J Am Coll Cardiol 39:1066-1071, 2002
  39. 39.  Usually above the ventricular septal defect Etiology:- Progression of the pre-existing lesion Acquired Two types:- Muscular Fibromuscular
  40. 40.  Incidence - 5% to 22%  Rare in small & Moderate-size VSDs  Down syndrome – early development of PAH  No overall sex predilection Keith JD et al. Heart Disease in Infancy and Childhood. 1978: 320–79.
  41. 41.  Survival rate for patients with VSD by pulmonary artery systolic pressure  42 men and 37 women, 18 to 59 years (mean 34 yrs)  67 patients treated medically and 12 surgically  All patients were followed up for 1 month to 25 yrs ( mean 9yrs) The solid line indicates a pressure less than 50 mm Hg (n = 36) Dashed line indicates a pressure of 50 mm Hg or greater (n = 17) Ellis JH 4th et al . Am Heart J. 1987;114:115-205
  42. 42.  Eisenmenger complex, develops in 10% to 15% most commonly in the 2 nd & 3rd decades of life common causes of death "sudden" or "unknown“  Development of pulmonary vascular disease after surgery depends on age at which procedure is done  Infants with VSD and increased pulmonary artery pressure - repair between 3 and 12 months
  43. 43.  18.7 per 10000 person-years in non operated cases  Operated VSD 7.3 per 10000 person-years  Higher in small defect & lower during childhood  Patients with a proven episode of endocarditis are considered at increased risk for recurrent infection so surgical closure may be recommended Gersony WM et al.Circulation 1993; 87(Suppl. I):I-121–I-126.
  44. 44.  Patients with VSD have a high incidence of arrhythmia Ventricular tachycardias in 5.7% Sudden death is 4.0% SVT, mostly AF, is also prevalent  Age and pulmonary artery pressure are the best predictors of arrhythmias  The odds ratio of serious arrhythmias increases 1.51 for every 10-year increase in age 1.49 for 10mm Hg increase in mean PA pressure Wolfe RR et al. Circulation. 1993;87:I89-101
  45. 45.  Heart failure not controlled by medical therapy VSD should be operated with in 6 month of life  Qp/Qs is 2 or more surgical closure needed regardless of PA pressure  VSD with PVR more than 4 unit during 6-12 months  VSD with elevated PVR first seen after infancy  Moderate VSD with no size change in childhood
  46. 46.  Right bundle branch block  33.3% undergoing transatrial repair  78.9% to 11% in repair via a right ventricular incision  Transpulmonary approach has the lowest incidence  Complete heart block in 1 to 2%  Pulmonary hypertension in (4% )  Sinus node dysfunction (4%)  Progressive aortic valve insufficiency (16%) Roos-Hesselin JW et al. Eur Heart J 2004;25:1057-1062. Abe T et al . Jpn Circ J 1983; 47: 328–35.
  47. 47. Clinical evaluation  Of the patients, 92% were in NYHA class 1, and 8% in class 2.  Five patients (5%) were taking medication: oral anticoagulation in 1 (artificial aortic valve), b- blockers in 2, and ace-inhibitors in 2 patients. Oxygen saturation (measured with Nellcor) was 98% (range 94–100%). No patient showed signs of heart failure.
  48. 48. Risk factors for late death  A median pulmonary artery pressure of more than 70 mmHg before operation .  peri-operative complications (re-operation, arrhythmia, infection) were predictors for late mortality.
  49. 49.  This series is unique in that it comprises a cohort of consecutive patients operated on at young age at a single institution with longitudinal follow-up of 22–34 years.  Apart from a considerable historical early mortality (13%), we experienced only a 4% (6 patients) late mortality.
  50. 50. Second natural history study of congenital heart defects – circulation – 1993.  25 yr survival – 87%  In medically managed pts,64.5% deaths are cardiac, 35% - sudden deaths, 3.3% due to IE, 35% due to CHF and 27 % due to unspecified cardiac cause  In pts who underwent surgery, 89.8% deaths are cardiac, 6.3% - peri-operative, 39.2% - sudden, 24% - CHF, 30% - unspecified cardiac cause  Addl. Surgeries in surgically managed pts – 5.5%  Pts with eisenmenger syndrome – 10-12 fold higher risk of death  AR – 0.7 %, IE - rare  10 pts among medically managed group developed eisenmengers & none in surgically managed group
  51. 51.  Surgical closure is not indicated in pts with small VSDs & N.PAP  If the VSD is large and the pulm. Resistance is increased, closure early in life is indicated  If the VSD is moderate in size with an increase in PAP and N. PVR, decision is less clear. However such pts are at 4- fold the risk of death and so closure may be reasonable. Factors that influence course of disease : Worse prognosis with males, elderly, elevated PAP, RVH, medical center
  52. 52. Patent Ductus ArteriosusPatent Ductus Arteriosus
  53. 53.  Incidence of isolated PDA in term infants - 1 in 2,000  Female predominance - 3:1  High incidence- Prematurity, Maternal rubella  Genetic inheritance- Autosomal recessive with incomplete penetrance
  54. 54. Campbell series : SPONTANEOUS CLOSURE : Occurs at a fairly constant rate of 0.6 %/yr through the 1st 4 decades of life (Campbell’s study) It is generally agreed that spontaneous closure is uncommon in full term infants beyond 3 – 5 months age. However, in preterm infants, delayed closure of PDA is common
  55. 55. DEATH :  30 % die within 1st yr of life. Risk highest in the 1st few months  After infancy, the annual death rate is 0.5 % / yr.  By 3rd decade, death rate is 1 %/yr  By 4th decade – 1.8 %/yr  Later, 4 %/yr  60 % of pts die by 45 yrs age (natural h/o PDA – Campbell)  Death is due to CHF or recurrent LRTI and sometimes due to IE
  56. 56.  Congestive heart failure  Infective endarteritis  Pulmonary vascular disease  Aneurysmal formation  Thromboembolism  Calcification
  57. 57.  CHF resulting from an isolated PDA either develops in infancy or during adult life  HF in infancy usually occurs before of 3 mths of age  Initially left heart failure, later right heart failure  Good response to drugs initially, but is not maintained
  58. 58.  Major cause of death in earlier era  Incidence - 0.45% to 1.0% per annum  Vegetations usually found at the PA end of the duct May cause recurrent pulmonary embolism  Infection may also cause a ductal aneurysm Cosh JA. Br Heart J 1957; 19: 13–22.
  59. 59.  No definite data on incidence  “Differential cyanosis”  Eisenmenger patients do not tolerate PDA closure
  60. 60.  As many ducts will eventually close in premature infants approach to treatment is different - preterm infant Vs mature, child  Beyond infancy, closure reported in 0.6% per year  Medical therapy  Treatment of Heart failure  Ductal closure with drugs  Surgical Therapy Campbell M et al.Heart 1968;30:4–13.
  61. 61.  Coils closure for <3 mm, >97% success, zero mortality  Larger PDAs - specialized devices  >98% complete closure rate at 6 months
  62. 62. No spontaneous closure h/ similar to persistently large VSD Rarely seen in childhood or adult life Those who survive beyond early life have severe PVOD
  63. 63.  1.5 – 3 % of all CHDs  50 % survive beyond 3 months  20 % survive the 1st yr of life.  Survival beyond the 1st yr of life with out surgical Rx usually have a large ASD. They tend to have a stable hemodynamic state for 10 -20 yrs with little change in PVR after which some pts develop eisenmenger complex.
  64. 64. Hazelrig and colleagues – data from 183 autopsied cases of surgically untreated TAPVC reported in literature : Median survival – 2 months (range – 1 day to 49 yrs) 90 % of deaths by 1st yr of life Obstruction of the pulmonary venous pathway reduced median survival from 2.5 months in the non obstructed group to 3 weeks in the obstructed group Patients with supra cardiac and cardiac connections had a similar history,with median survival of 2.5 & 3 months respectively, whereas those with infracardiac type – 3 weeks Presence of an ASD (rather than a PFO) was associated with increased survival particularly when the connection is not infracardiac
  65. 65.  Gender distribution is approximately equal.  malformation recurs in families .  reported in siblings including triplets, and in parents and offspring.  Birth weight lower than normal  growth and development are generally retarded.
  66. 66.  Usually comes to light in neonates and infants.  Shunt is left-to-right, initial suspicion is a prominent systolic murmur.  Shunt is balanced, the murmur persists in addition to mild, intermittent, or stress-induced cyanosis.  Shunt is reversed, the prominence of the systolic murmur is inversely proportional to the degree of cyanosis.
  67. 67.  Early infancy is often benign.  Mild to moderate neonatal cyanosis tends to increase.  Cyanosis may be delayed for months.  Coupled with increased oxygen requirements of the growing infant rather than with progressive obstruction to right ventricular outflow.  By 5 to 8 years of age, most children are conspicuously cyanotic, with cyanosis closely coupled to the severity of pulmonary stenosis.  Infants with TOF and pulmonary atresia are mildly cyanotic or acyanotic when collateral flow is abundant.
  68. 68.  Analysis of survival patterns based on 566 necropsy cases of Fallot’s tetralogy,  two thirds of patients reached their first birthday,  approximately half reached age 3 years,  approximately a quarter completed the first decade of life.  The attrition rate was then 6.4% per year with  11% alive at age 20 years,  6% at age 30 years,  3% at age 40 years
  69. 69.  According to data compiled by Bertranou,  66% of patients not treated surgically live to age 1 year,  48% to age 3 years  24% to age 10 years
  70. 70.  Samanek et al (central Bohemia.)  88% survived the first week.  84% to the first month. The actuarial survival rate  at 1 year was 64%,  49% at 5 years,  23% at 10 years  4% at 15 years.  survival overall is considerably worse in those patients with tetralogy and pulmonary atresia
  71. 71.  Most common CCHD after 4 years of age  Constitutes a large proportion of adults with cyanotic congenital heart disease.  Patients without repair have lived to age 75 years, 78 years, 84 years and 86 years.  In TOF with pulmonary atresia  life expectancy without surgery  as low as 50% in 1 year and 8% in 10 years  adequate collateral blood flow occasionally permits survival into adolescence and adulthood.
  72. 72.  Pregnancy is poorly tolerated in females who reach childbearing age.  The gestational fall in systemic vascular resistance increases the right-to-left shunt, and labile systemic vascular resistance during labor and delivery results in abrupt oscillations in hypoxemia.  Fetal wastage is high  live born infants are dysmature.
  73. 73.  Neonatal right ventricle - well equipped to eject against systemic vascular resistance because the nonrestrictive VSD permits decompression into the aorta.  Right ventricular failure is uncommon  Biventricular failure in the first few weeks of life seen in pulmonary atresia with excessive flow through large systemic arterial collaterals.
  74. 74.  Accessory tricuspid leaflet tissue -partially occludes the VSD results in supra systemic RVSP and right ventricular failure.  Absence of the pulmonary valve results in volume overload of the pressure-overloaded right ventricle.  Systemic hypertension- increases left and right ventricular afterload and can induce right ventricular or biventricular failure.
  75. 75.  Acquired calcific stenosis of the biventricular aortic valve imposes increased afterload on both the right and the left ventricles.  Regurgitation of a biventricular aortic valve sets the stage for right ventricular failure by imposing volume overload on the already pressure overloaded right ventricle.  Infective endocarditis on an incompetent aortic valve can result in catastrophic acute severe biventricular aortic regurgitation.
  76. 76.  Isotonic exercise – causes  a fall in systemic vascular resistance in the face of fixed obstruction to right ventricular outflow  increasing venoarterial mixing.  significantly influencing the dynamics of O2 uptake and ventilation.  Stimulates the respiratory center and the carotid body, provoking hyperventilation that is subjectively perceived as dyspnea.
  77. 77.  Five mechanisms are therefore involved in the pathogenesis of Fallot spells:  (1) an acceleration in heart rate.  (2) an increase in cardiac output and venous return.  (3) an increase in right-to-left shunt.  (4) vulnerable respiratory control centers.  (5) infundibular contraction.
  78. 78.  Squatting for relief of dyspnea –time honored hallmark of Fallot’s tetralogy  Taussig described the preference for certain postures other than squatting  knee-chest position,  lying down,  sitting with legs drawn underneath
  79. 79.  Recurrent hypoxic spells lead to brain damage and mental retardation.  Cerebral venous sinus thromboses and small occult thromboses may become manifest after prolonged hypoxic spells.  Velopharyngeal insufficiencymay develop.
  80. 80.  Brain abscess and cerebral embolism.  Iron deficient erythrocytosis -less than 4 years increases the risk of cerebral venous sinus thrombosis.  Wheezing and stridor-attributed to tracheal compression by an enlarged aorta.  A stenotic pulmonary valve and incompetent aortic valve -substrates for infective endocarditis.
  81. 81.  Physiologic consequences and clinical course  Non restrictive VSD –  favorably influenced by mild to moderate acquired obstruction to right ventricular outflow  The clinical picture initially resembles an isolated nonrestrictive VSD with large left-to-right shunt .  With the development of RVOT obstruction, excessive pulmonary blood flow and volume overload of the left ventricle are curtailed symptoms related to the left- to-right shunt diminish, and physical development improves.  Obstruction RVOT may progress sufficiently to reverse the shunt, resulting in late onset cyanosis.
  82. 82.  restrictive VSD - accompanied by severe pulmonary valve stenosis, the clinical picture resembles isolated pulmonary stenosis with intact ventricular septum.  restrictive VSD with mild pulmonary stenosis -associated with a conspicuous murmur and few or no symptoms but with the risk of infective endocarditis.
  83. 83.  Fortunes of patients with TOF were altered by a series of primarily surgical maneuvers: • Blalock–Taussig shunt 1945. • Potts shunt 1946. • primary repair 1954 • Waterston shunt 1962 • prostaglandin therapy 1976 • primary repair of the infant 1973.
  84. 84.  Shunt failure was more common in patients < 3.0 kg  The central and Waterston shunts had the highest 30 day mortality of 17%,  modified Blalock–Taussig shunt had a 7% mortality.  Their data also showed an inverse relationship between mortality and weight.
  85. 85.  This approach should avoid the deleterious effects of a shunt procedure, reduce right ventricular hypertrophy and hypertension, ideally as a corollary reducing the risk of late ventricular arrhythmias.
  86. 86.  survival  impact of pulmonary regurgitation and requirement for pulmonary valve replacement  ventricular arrhythmias and sudden death  atrial arrhythmias  complete heart block  ventricular function  bacterial endocarditis
  87. 87.  Older age at surgery  Higher ratio of RVSP/LVSP  Transannular patch  Pulmonary regurgitation  Uncorrectable lesion in RVOT  Prolonged CPB time  Residual shunt>1.5:1 with PVOD  Pre op- polycythemia
  88. 88. • Some degree of pulmonary regurgitation -inevitable after repair of TOF • In the long term pulmonary regurgitation if not trivial-to mild will not be tolerated and will impact on the form and function of the right ventricle. • Important pulmonary regurgitation of long duration will cause right ventricular dilatation, impair right ventricular performance, lead to tricuspid regurgitation, and will predispose to atrial flutter/fibrillation, ventricular arrhythmias, and sudden cardiac death
  89. 89. • Sudden, unexpected death -incidence of from 0.5%- 6%. • This event is likely related to ventricular arrythmias or a history of CHB • Ventricular arrhythmias are seen in the older TOF patient before repair, and thus may be a consequence of the disease. • Sudden, unexpected death - more common when the patient was repaired at an older vs. younger age.
  90. 90.  Not completely known  owing largely to the fact that techniques for diagnosing and quantitating aortic stenosis have developed simultaneously with the evolution of surgical and transcatheter treatment modalities.
  91. 91.  1993 Report from the Second Joint Study on the Natural History of Congenital Heart Defects (NHS- 2) presents data from the largest number of patients and longest follow-up period  This report provides complete data on only 235 patients (51% of the original NHS-1 cohort) with median follow-up of 22.5 years.
  92. 92.  Congenital aortic valve disease encompasses a wide spectrum from critical infantile aortic stenosis to normally functioning bicuspid aortic valve.  Only about 1 in 50 of the 1.3% of the population with congenitally bicuspid aortic valves will develop significant valve dysfunction by adolescence.
  93. 93.  Patients who present in infancy with aortic valve stenosis generally have more severe stenosis and higher mortality with or without treatment.  25% of the patients in the original NHS-1 cohort were younger than 2 years old; the 1-year survival rate was 64%, and most had undergone surgical intervention.  In contrast, the 25-year survival in patients who were 2 years of age or older at the time of original enrollment was 85%.
  94. 94.  50% of infants with severe valvular aortic stenosis -require hospitalization within the first week of life because of failure.  Symptomatic infants require prompt relief of obstruction by balloon valvuloplasty, the procedure of choice.
  95. 95.  1.Most infants beyond the newborn period and children with mild aortic valvular stenosis  (PSPG at catheterization <25 mm Hg or a Doppler mean pressure gradient <25 mm Hg)  remain stable  only a 21% likelihood of progression in severity and the need for intervention within the subsequent 25 years.  2.patients with a PSPG between 25 and 49 mm Hg,  the likelihood of significant progression rises to 41%,  3.patients with PSPG >50 mm Hg  it rises to 71%.
  96. 96.  Patients with a PSPG >50 mm Hg are at risk for serious ventricular arrhythmias and sudden death.  Infective endocarditis on the aortic valve poses  systemic arterial emboli  aortic regurgitation with congestive failure, shock, and death.
  97. 97.  Campbell series , published in 1968,  mean age of death was 35 years,  40% mortality by age 30  60% mortality by age 40.  50% of the patients who died had sudden unexpected death,  50% of sudden death cases from aortic stenosis occurred during or immediately after exercise .  most of the remaining deaths -due to progressive CCF.
  98. 98.  Clinical presentation  varies from severe valve disease in infancy to  asymptomatic valve or thoracic aorta disease in the older child  symptoms usually develop in adulthood (Siu & Silversides, 2010).
  99. 99.  A study performed on adult patients with bicuspid aortic valves showed a median increase of 0.7 mmHg per year in peak Doppler gradient (Tzemos et al., 2008).  Pure aortic incompetence due to a prolapsed leaflet may occur in childhood but is more likely to develop and progress later in time
  100. 100.  Aortic root dilatation has been documented in childhood, suggesting that this process begins early in life (Beroukhim et al., 2006; Gurvitz et al., 2004).  Its progression is more likely in children with a larger aorta at baseline, but it is extremely rare to necessitate intervention before adulthood (Holmes et al., 2007).
  101. 101.  Bacterial endocarditis risk -1% per year,  NHS-2 data where the incidence rate was 27.1 cases per 10,000 person-years.  Bacterial endocarditis risk is present even in very mild aortic valve stenosis, the incidence of endocarditis is higher in patients with more severe stenosis.
  102. 102.  Bimodal presentation.  produces significant symptoms in early infancy and after age 20 to 30 years.  Neonates with severe coarctation become acutely symptomatic when the ductus closes.  Most who survive the hazards of infancy reach adulthood  25% die by age 20 years,  50% die by age 30 years  75% die by age 50 years.  Survival has been reported at age 74 years and 76 years.
  103. 103.  Mild coarctation is not always benign, and severe coarctation is not always asymptomatic.  Except for symptomatic infants, patients tend to be clinically well when the diagnosis is first made.
  104. 104.  Epistaxis .  Muscular fatigue-When coarctation compromises the orifice of the left subclavian artery in left- handed patients.  Leg fatigue occurs in about half of patients, but claudication is reserved for abdominal coarctation.  Dysphagia occurs when a retroesophageal right subclavian artery originates distal to the coarctation and passes behind the esophagus or when coarctation is a component of a vascular ring.
  105. 105. Four eventualities:  (1) congestive heart failure;  (2) rupture or dissection of the aorta;  (3) infective endarteritis or endocarditis; and  (4) cerebral hemorrhage.  Hypertension is chiefly responsible for morbidity and mortality with advancing age.
  106. 106.  Highest in infants and is high again after the fourth decade.  Review of 234 patients -aged 1 day to 72 years, heart failure occurred in  67% of patients -less than 1 year of age and >age 40 years  4% of patients between 1 year and 40 years of age.  Many neonates and infants with congestive heart failure have a coexisting VSD or PDA  In brief, more than 90%of infants and children with uncomplicated coarctation experience little or no difficulty
  107. 107.  Dramatic complication  peak incidence -third and fourth decades.  Rupture originates either in a paracoarctation aneurysm or above a coexisting bicuspid aortic valve because of an inherent medial abnormality of the ascending aorta.  Rupture of a postcoarctation aneurysm may be accompanied by bleeding into the esophagus that is announced by hematemesis and melena.  In XO Turner’s syndrome, rupture or dissection of an ascending aortic aneurysm occurs because of an inherent medial abnormality, whether or not a coexisting coarctation or a bicuspid aortic valve exists .
  108. 108.  Major complication of coarctation of the aorta  More susceptible site is a coexisting bicuspid aortic valve.  Saccular septic aneurysms are occasional sequelae of infective endarteritis
  109. 109.  Fourth major eventuality  Hypertension is not a necessary precondition because cerebral complications can occur with normotensive conditions long after successful repair.  An aneurysm of the circle of Willis-chief offender and sets the stage for rupture and cerebral hemorrhage.  Less common are aneurysms in other cerebral arteries.  Infective endocarditis on a bicuspid aortic valve can give rise to septic cerebral aneurysms that rupture.
  110. 110.  Typical mobile dome-shaped pulmonary valve stenosis  relatively common, with a prevalence rate as high as 10% of cases of congenital heart disease.  Gender distribution is equal  Also the case in dysplastic pulmonary valve stenosis.
  111. 111.  Neonates with pinpoint pulmonary valve stenosis experience rapidly progressive cardiac failure and early death.  mobile domeshaped- experience little or no difficulty in infancy and childhood.  In a review of 69 cases,  Average age at death was 26 years;  Seven patients survived to age 50 years  three survived to 70 and 75 years.  In 21 adults, the average follow-up period was 50 years.
  112. 112. Longevity depends on three variables: 1. the initial severity of stenosis; 2. whether a given degree of stenosis remains constant or progresses; 3.whether the function of the after loaded right ventricle is preserved.
  113. 113.  Normal pulmonary valve orifice  increases linearly with age and body surface area.  Orifice of a stenotic mobile dome-shaped pulmonary valve increases with age, but not necessarily at the rate of somatic growth.  Mild pulmonary valve stenosis in infancy usually remains mild  Moderate to severe pulmonary stenosis tends to progress.  Stenosis of the pulmonary artery and its branches is not progressive.  Fibrous thickening and occasionally calcification -responsible for increasing the degree of stenosis in older adults.
  114. 114.  Dyspnea and fatigue- mild as long as the right ventricle maintains a normal stroke volume at rest and augments its stroke volume with exercise.  Relatively asymptomatic patients can have rapid deterioration.  Cardiac output is inadequate even at rest when the hemodynamic burden imposed on the right ventricle leads to right ventricular failure, which is the commonest cause of death.
  115. 115.  Giddiness and light-headedness with effort prefigure syncope.  Children and adults occasionally experience the chest pain of right ventricular myocardial ischemia.  Sudden death has been associated with right ventricular infarction and an abnormal right coronary artery.  Dilated thin-walled intrapulmonary artery aneurysms distal to the stenoses of pulmonary artery branchesare sources of hemoptyses that can be intermittent and mild or recurrent and brisk.
  116. 116.  Mobile dome-shaped pulmonary valve stenosis  substrate for infective endocarditis that can induce a medical valvotomy when tissue is interrupted and orifice size increases.  Jet lesions in pulmonary artery stenosis can serve as substrates for infective endarteritis
  117. 117.  Ranges from intrauterine death to asymptomatic survival to late adulthood.  The most common presentations are  detection of the anomaly in a routine fetal echocardiogram;  neonatal cyanosis  heart failure in infancy  murmur in childhood  arrhythmias in adolescents and adults.
  118. 118.  In utero, severe EA may lead to cardiomegaly, hydrops and tachyarrhythmias.  EA is a common lesion referred for foetal echocardiography by the obstetrician.  The intrauterine mortality rate is high in the severe forms of EA.
  119. 119. Neonates with Ebstein’s anomaly,  20% to 40% do not survive 1 month  < 50% survive to 5 years.  Neonates not only have high mortality rates but also a significant ongoing risk of morbidity and death.  Neonatal right-to-left interatrial shunt disappears as pulmonary vascular resistance normalizes.  Shunt subsequently reappears as filling pressure rises in the functionally abnormal right ventricle.
  120. 120.  subjects <2 years old at presentation, a haemodynamic problem is more common than in older patients  In subjects >10 years old at presentation, an electrophysiological problem is more common than in younger.
  121. 121.  Symptomatic children with EA may have progressive right heart failure, but most will reach adolescence and adulthood.  In adulthood, patients usually present with arrhythmias, progressive cyanosis, decreasing exercise tolerance or right heart failure.  In the presence of an interatrial communication, the risk of paradoxical embolisation, brain abscess and sudden death is increased
  122. 122.  Celermajer et al. reviewed 220 cases with 1–34 years’ follow-up.  Actuarial survival for all live-born patients was  67% at 1 year  59% at 10 year  Predictors of death were  echocardiographic grade of severity at presentation  foetal presentation  right ventricular outflow tract obstruction
  123. 123.  Tachyarrhythmic sudden death -responsible for the decline in survival rate in the fifth decade.  WPW syndrome  healthy individuals carries an estimated sudden cardiac death risk of 0.02%,  Ebstein’s anomaly-atrial flutter or fibrillation with accelerated conduction is accompanied by a major increase in the risk of sudden death.
  124. 124.  Pregnancy incurs the risks inherent in a functionally inadequate volume overloaded right ventricle that copes poorly with the additional hemodynamic burden of gestation.  Paroxysmal atrial tachyarrhythmias -potential hazards especially the rapid rates associated with accessory pathways.  Cyanosis may first become manifest during pregnancy because of a rise in filling pressure in the volume- overloaded right ventricle.  Hypoxemia increases the risk of fetal wastage  Right-to-left interatrial shunt incurs a puerperal risk of paradoxical embolization
  125. 125.  The male: female ratio is approximately 1.5:1.  Symptoms and clinical course depend chiefly on the presence and degree of coexisting malformations.  longevity principally hinges on the vulnerability of the sub aortic morphologic right ventricle, even with no coexisting malformations.
  126. 126.  Infant mortality is related to congestive heart failure.  Survival is then relatively constant, with an attrition rate of approximately 1% to 2% year.
  127. 127.  Young patients with CCTGA-often overlooked because symptoms are absent and clinical signs are subtle.  The diagnosis may come  abnormalities in an x-ray or an electrocardiogram  symptomatic complete heart block .  age-related risk of development of complete heart block is about 2% per year
  128. 128.  Left atrioventricular valve regurgitation is closely coupled to long-term survival.  Regurgitation is usually occult in infants, so late appearance prompts a mistaken diagnosis of acquired mitral regurgitation.  Survival to the sixth or seventh decade is infrequent
  129. 129.  In isolated CCTGA – CARDAIC FAILURE  failure of subaortic right ventricle is uncommon  May occur during pregnancy in previously asymptomatic women.  Myocardial perfusion defects are prevalent.  Angina pectoris is attributed to a supply-demand imbalance between a thick-walled systemic right ventricle and its blood supply from a morphologic right coronary artery.
  130. 130.  nonrestrictive VSD +CCTGA -clinical course analogous to a VSD of analogous size in normally formed hearts.  Pulmonary stenosis exerts a protective effect by curtailing excessive pulmonary blood flow.  Inverted subpulmonary left ventricle adapts to the systemic systolic pressure incurred by a nonrestrictive VSD.  Isolated pulmonary stenosis varies from mild to severe and has a clinical course analogous to equivalent pulmonary stenosis in hearts without ventricular inversion
  131. 131.  Cyanosis begins as early as the first day of life in more than 90% of infants with an intact IVS.  Severe pulmonary stenosis or atresia results in intense neonatal cyanosis.  Mild cyanosis with delayed onset is a feature of D-TGA +nonrestrictive VSD or PDA.  Large isolated ductus -associated with severe CCF in the first few days of life, and spontaneous closure results in a sudden fall in systemic arterial oxygen saturation, rapid clinical deterioration, and death.
  132. 132.  Neonatal survival - tightly coupled to the delicate interplay between the inter circulatory communications and pulmonary bloodflow.  An older infant depends for survival on adequate pulmonary blood flow.  MORTALITY:  30% in the first week,  50% in the first month,  90% in the first year.
  133. 133.  Survival is poorest  when the foramen ovale is restrictive,  the ventricular septum is intact  ductus is closed.  balloon septostomy results in;  75% of patients survive for 6 months,  65% survive for 1 year,  many survive into their teens.  A nonrestrictive VSD with pulmonary vascular disease carries a 6-month survival rate of about 30% and a 1- year survival rate of about 20%.
  134. 134.  Moderate pulmonary stenosis improves longevity by regulating pulmonaryblood flow, with 75% surviving for a year or more.  Most of those who reach their teens have a nonrestrictive VSD with pulmonary vascular disease or pulmonary stenosis.
  135. 135.  The murmur of VSD dates from birth  Flow from the left ventricle through the defect is obligatory and does not await the neonatal fall in pulmonary vascular resistance.  Increased pulmonary blood flow results in volume overload of the left ventricle, congestive heart failure, and poor growth and development.
  136. 136.  Cyanosis is mild or absent because left ventricular blood preferentially enters the aorta and right ventricular blood preferentially enters the pulmonary artery  A rise in PVR curtails pulmonary blood flow and relieves the left ventricular of volume overload.  Patients occasionally reach young adulthood.
  137. 137.  The clinical manifestations closely resemble Fallot’s tetralogy.
  138. 138.  DORV+sub pulmonary VSD  resemble complete transposition of the great arteries with a nonrestrictive ventricular septal defect
  139. 139.  Cyanosis dates from birth or early infancy because flow from right ventricle into aorta is obligatory.  As neonatal pulmonary vascular resistance falls, left ventricular blood preferentially enters the pulmonary trunk across the subpulmonary VSD.  Systemic arterial oxygen saturation is relatively high but at the price of increased pulmonary blood flow, left ventricular volume overload, and congestive heart failure.
  140. 140.  The clinical course is especially poor when coarctation of the aorta elevates systemic systolic pressure, which augments already abundant pulmonary blood flow by diverting still more right ventricular blood into the pulmonary trunk .  A rise in pulmonary vascular resistance occasionally regulates pulmonary blood flow and ameliorates congestive heart failure.  Cyanosis increases, but longevity improves; and an occasaional patient reaches the second, third, or fourth decade.
  141. 141.  Equal frequency in males and females.  Truncus arteriosis has been reported with chromosome 22q11 deletion, trisomy 18,and trisomy 21.
  142. 142.  Comes to attention in the first few weeks of life.  Tachypnea, diaphoresis, poor feeding, and failure to thrive.  As pulmonary resistance falls, pulmonary blood flow increases and neonatal cyanosis diminishes or may virtually vanish.  Truncal valve regurgitation is responsible for biventricular failure because regurgitant flow is received by both ventricles.  A systolic murmur awaits the fall in neonatal pulmonary vascular resistance analogous to the time course with VSD.
  143. 143.  seldom reach their first birthday.  Most die of congestive heart failure in the first few months of life.  In van Praagh and van Praagh’s necropsy series,  mean age at death was 5 weeks.  A rise in PVR occasionally regulates pulmonary blood flow and relieves the volume-overloaded left ventricle, so symptoms of congestive heart failure improve while cyanosis deepens.
  144. 144.  A small but not insignificant number of patients reach their third, fourth, or fifth decade with an occasional survival into the sixth or seventh decade.  Rarely, death is from sudden intramural dissection and rupture of the common trunk.  Morbidity and mortality are also influenced by a host of noncardiac abnormalities that coexist.
  145. 145.  depends on the specific morphology of the defect,  the size of the ventricular septal defect  degree of ventricular hypoplasia,  degree of atrioventricular valve regurgitation  presence or absence of left ventricular outflow tract obstruction  presence or absence of coarctation of aorta, and associated syndromes (cardiac and noncardiac).
  146. 146.  Patients with the complete form of AVSD and large VSD not undergoing repair die in infancy with congestive heart failure and pulmonary artery hypertension.  Those who survive without surgery into childhood usually develop pulmonary vascular obstruction and eventually die with Eisenmenger’s syndrome.
  147. 147.  Berger and his colleagues found that in complete AVSD  only 54% were alive at 6 months of age,  35% at 12 months  15% at 24 months  4% at 5 years.  These data alone would support surgical intervention in the first 3–6 months of age.
  148. 148.  Prognosis better when compared to complete AVCD especially with minimal LAVR(left AV regurgitation).

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