Your SlideShare is downloading. ×
Congenital Heart Diseases
Upcoming SlideShare
Loading in...5

Thanks for flagging this SlideShare!

Oops! An error has occurred.

Saving this for later? Get the SlideShare app to save on your phone or tablet. Read anywhere, anytime – even offline.
Text the download link to your phone
Standard text messaging rates apply

Congenital Heart Diseases


Published on

Published in: Health & Medicine

  • Be the first to comment

No Downloads
Total Views
On Slideshare
From Embeds
Number of Embeds
Embeds 0
No embeds

Report content
Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

No notes for slide


  • 1. Congenital Cardiovascular Anomalies Dr. Kalpana Malla MBBS MD (Pediatrics) Manipal Teaching HospitalDownload more documents and slide shows on The Medical Post [ ]
  • 2. Contents• General concepts of congenital heart diseases.• Atrial Septal Defect.• Ventricular Septal Defect.
  • 3. Incidence:• ~1% in the general population (6-8 per 1000 live births)• Incidence in stillborns (3-4%), aborted fetus (10- 25%), premature infants (2%)• Diagnosis made in 40-50% by one week of age, in 50-60% by 1 mo of age
  • 4. Incidence• Recurrence risk - if h/o one affected sibling –• VSD, PDA  3%• TOF, ASD2.5%• Tricuspid atresia, Ebstein anomaly1%
  • 5. Relative frequencies of major CHD:Lesions % of all lesions• VSD 25-30• ASD 6-8• PDA 6-8• Coarctation of Aorta 5-7• TOF 5-10• Pulmonary valve stenosis 5-7• Aortic valve stenosis 4-7
  • 6. Relative frequencies of major CHD Lesions % of all lesions• TGA 3-5• Hypoplastic left heart 1-3• Truncus Arteriosus, TAPVR, Tricuspid atresia, Single ventricle, Double outlet rt ventricle 1-2 Others 5-10
  • 7. Etiology –1.Genetic• Inheritance- Dominant pattern –• ASD, supravalvular aortic stenosis, cardiomyopathy• Osteogenesis Imperfecta: Aortic regurgitatio• Marfan Syndrome: Aortic dilatation, aortic & mitral incompetence
  • 8. CHD with chromosomal abnormalities5 % associated with Chromosomal anomalies:• Trisomy 13, 18 (>90%), 21 (50%)• 18 Trisomy - VSD, PDA, DORV• 13 Trisomy - Dextocardia,VSD, PDA• 21 Trisomy Downs syndrome - A-V canal defect, VSD
  • 9. CHD with chromosomal abnormalities• Turner’s syndrome (40%) - Coarctation of aorta, aortic stenosis• Deletion chromosome 22q11: Di George syn• Familial cardiomyopathies: HCM, DCM
  • 10. Etiology: 2.Gender Factors• Occur equally among males and females, but— – More common in males: aortic stenosis, coarctation of the aorta – More common in females: PDA, ASD
  • 11. Etiology: 3. Environmental• High altitude• Maternal Dsa) Diabetes: TGA ,VSD, situs inversus, single ventricle, hypoplastic left ventricleb) SLE: Congenital heart block
  • 12. 3. Environmental Factors3. Maternal Infections: – Rubella: PDA, pulmonary stenosis, VSD, ASD• Mumps: Endocardial Fibroelastosis4. Maternal Drugs: – Lithium: Tricuspid valve abnormalities, Ebstein’s Anomaly – Thalidomide – Alcohol abuse: VSD - warfarin, anticonvulsants, antimetabolites , Phenytoin : Variable
  • 13. Classification of congenital heart disease:1. Acyanotic2. Cyanotic lesions
  • 14. Acyanotic• volume load pressure load -L→R shunts obstr. ventric. outflow-ASD - Pulmonary valve stenosis -VSD- AV canal - Aortic valve stenosis-Patent ductus arterisus - Coarctation of aorta
  • 15. Cyanotic↑ pulmonary flow ↓ pulmonary flow• TGA • TOF• Single ventricle • Pulmonary atresia• Truncus arteriosus • Tricuspid atresia• TAPVR w/o obstruction • TAPVR with obstruction
  • 16. Characteristics of patients with LR shunts:• Absence of cyanosis• Frequent chest infections -Due to decreased lung compliance which leads to frequent respiratory tract infections• Precordial bulge• Excessive sweating - Tendency for CCF
  • 17. Characteristics of patients with LR shunts:• Failure to thrive - due to poor oxygen saturation in the growing tissues, persistent heart failure, and frequent respiratory infections with undernutrition• Cardiomegaly• Shunt & flow murmurs• Plethoric lung fields
  • 18. Characteristics of patients with obstructive lesions:• Absence of cyanosis or frequent chest infections• Normal precordial shape• Forcible/heaving cardiac impulse, without cardiomegaly• Delayed S2
  • 19. Obstructive lesions (contd)• Ejection systolic murmur, with thrill• Absence of diastolic murmurs• Normal sized heart with normal pulmonary vascularity• Ventricular hypertrophy on ECG• Chest pain- severe aortic stenosis lead to myocardial ischemia
  • 20. Characteristics of cyanotic patients:• Cyanosis- Occurs under following circumstances1. Reduced pulmonary blood flow in defects with right ventricular outflow tract obstruction2. R→L as in tetralogy of Fallot3. Discordant ventriculoarterial connections – TGA4. Mixing of venous and arterial blood – truncus arteriosus or single ventricle
  • 21. Characteristics of cyanotic patients:• Hypercyanotic Spells Fallots tetralogy and defects with Fallots physiology**Due to pulmonary infundibular stenosis
  • 22. Characteristics of cyanotic patients:• Clubbing• Polycythemia• Murmurs• FTT
  • 23. • Heart Failure occurs in following situations :• Volume overload- all defects with L →R shunt like VSD,ASD,PDA• Pressure overload - in pulmonary and aortic valve stenosis• Intrinsic myocardial diseases -cardiomyopathies,• Decreased or increased diastolic fillings - tachyarrhythmias and bradyarrhythmias.
  • 24. Investigations:1. Chest X-ray: shape & size of heart, vascularity, pulmonary edema, lung & thoracic anomalies2. ECG: Hypertrophy3. Hematology: anemia (? Physiological, iron deficiency), polycythemia
  • 25. Investigations5. Echocardiography/Doppler Echo: intracardiac anatomy of all structural defects , hemodynamic data regarding pressure gradients across valves, cardiac contractility, flow, vegetations
  • 26. Investigations6.Cardiac catheterisation: calculates 02 saturation, shunt volumes, pressures, etc• Indications• Preoperative identification of the lesions• Peroperative physiological assessment of pulmonary artery pressure and press gradient
  • 27. Cardiac Catheterization• Therapeutic interventional procedures1.Baloon dilatation of stenotic valve and coarctation of aorta2. Blade and baloon atrial septoplasty3. Non- surgical closure of PDA ,ASD4.Catheter ablation of arrythmogenic focus by pacemaker implantation
  • 28. Investigations (contd):7. Exercise testing8. MRI9. Angiocardiography10.Interventional catheterisation
  • 29. Management:• Early identification of problem• Supportive management:1. Treatment of heart failure2. Prevent frequent RTIs3. Maintain required weight , Hb4. Infective endocarditis prophylaxis5. Regular follow-ups• Surgical management
  • 30. Atrial Septal Defect – Defect in atrial septum – 6-8 % of all CHDs – Male : female ratio is 1:2
  • 31. ASD - classification• Three major types – Ostium secundum • most common- 50-70%, • In the middle of the septum in the region of the foramen ovale – Ostium primum -30% • Low position • Form of AV septal defect
  • 32. ASD - classification – Sinus venosus • Least common-10% • Site-at entry of superior venacava into right atrium• Mitral valve prolapse associated in ~20% with ostium secundum or sinus venosus defect
  • 33. Hemodynamics• L R shunt at minor pressure difference- silent• Rt atrium receive blood from SVC,IVC + left atrium rt atrium enlarges in size passes through normal sized tricuspid valve delayed diastolic murmur at lower left sternal border rt.ventricle also enlarges normal pulmonary valve pulmonary ejection systolic murmur, prolonged ejection phase of rt ventricle P2 delayed
  • 34. Hemodynamics• S2 normally is single in expiration ( both component is superimposed on each other) & split in inspiration( A2 component slightly early P2 component is delayed)• In ASD-S2 is widely split and fixed- as rt ventricle fully loaded further increase in rt ventricular volume during inspiration cannot occur
  • 35. Clinical manifestations:• Usually asymptomatic• Mild effort intolerance, frequent chest infections may be +• CCF - rare
  • 36. Physical examination• Slender built• Parasternal impulse +• Systolic thrill 2nd Lt. interspace – 10%
  • 37. Auscultation• S1 :normal or accentuated due to loud tricuspid component• S2: Widely split & fixed S2 with P2 accentuatedMurmur –• Shunt murmur – absent• Flow murmurs – 1. Pulmonary – ejection systolic grade 2- 3/6 at 2nd and 3rd lt interspace-widey transmitted all over chest 2. tricuspid –delayed diastolic at lt lower sternal border
  • 38. ASD
  • 39. Investigations:1. CXR- mild to moderate cardiomegaly with enlarged right atrium & right ventricle, prominent pulmonary artery segment, increased pulmonary vascular markings2. ECG- RAD, RVH or RBBB with rsR’ pattern in V1 LAD - suggest O. primum defect3. Echo- position, size, signs of LR shunt, flow
  • 40. Natural history:• Spontaneous closure in ~87% of ostium secundum defects1. ASD <3 mm size, diagnosed before 3 months of age, spontaneous closure in 100% by 1.5 years of age2. ASD 3-8 mm size, spontaneous closure in 80% by 1.5 years of age3. ASD > 8mm rarely closes spontaneously
  • 41. Natural history:• Mostly asymptomatic and active• CHF & pulmonary HTN develop in untreated cases in their 20s to 30s• Atrial arrhythmias may occur in adulthood• Infective endocarditis rarely occurs, with isolated ASDs
  • 42. Management:• Medical: for CHF, chest infections non-surgical closure-Clamshell device, Sideris button device, Angel Wings, etc• Surgical closure: delayed till 3-4 years of age Indications: LR shunt Qp/Qs ratio:>1.5:1
  • 43. VSD • Communication b/t two ventricles
  • 44. VSD • May occur alone or with other abnormalities • About one-third of small VSDs close spontaneously
  • 45. Ventricular Septal Defect• Commonest acyanotic CHD (~25%)• Associated with-Down Syndrome Fetal hydantoin syndrome Fetal alcohol syndrome Trisomy 13, 18 Apert syndrome
  • 46. Anatomy• Compartments of ventricular septum: - Membranous septum - Inlet septum - Trabecular septum - Outlet or infundibular septum• Defects result from a deficiency of growth or failure of alignment or fusion of component parts
  • 47. Classification-pathology1.Membranous VSD- (perimembranous, paramembranous , conoventricular, infracristal, subaortic) – Most common (90%)2.Muscular VSD- (Swiss cheese ,inlet, trabecular, central, apical, marginal ,or outlet types)3. Supracristal VSD- (subpulmonary, outlet, infundibular, or conoseptal. subarterial defect) Least common
  • 48. Hemodynamics:• L→R shunt in ventricles occur with high pressure gradient throughout systole – pansystolic murmur• Blood to normal pulmonary valve – ejection systolic murmur• Large vol of blood to lungs – pul plethora• Blood to left atrium – Lt. atrial enlrgement• Blood to normal mitral valve – delayed diastolic murmur at apex
  • 49. Hemodynamics• Lt ventricles to outlets – empties relatively early – early A2• Rt ventricle & pul artery – increased ejection time – delayed P2-S2 widely split &variable
  • 50. Hemodynamics• Depends on: a) size of the shunt b) PVR• Based on size of VSD: - Restrictive VSD(<0.5 cm2 ) - Moderately restrictive VSD - Non-restrictive (>1 cm2 )
  • 51. Restrictive VSD• Small, hemodynamically insignificant• Size <0.5 cm2• Between 80% and 85% of all VSDs• All close spontanously 50% by 2 years 90% by 6 years 10% during school years• Muscular close sooner than membranous
  • 52. A moderately restrictive VSD• Size -> 0.5 cm2 (>5mm) in diameter• Moderate shunt (Qp:Qs = 1.5-2.5:1.0)• May lead to left atrial and LV dilation and dysfunction, as well as a variable increase in pulmonary vascular resistance
  • 53. Large nonrestrictive VSDs• Large VSDs with normal PVR• Usually >1.0 (>10 mm) in diameter• Usually requires surgery• Will develop CHF and FTT by age 3-6 months
  • 54. PVR (Pulmonary vascular R)• At birth - PVR is higher than normal so pul arterial pressure is equal to systemic pressure→the L → R shunt is limited → no clinical symptoms• First few weeks of life (normal involution of the media of small pulmonary arterioles) → fall in PVR → L → R shunt increases and clinical symptoms become apparent
  • 55. • In some with a large VSD -pulm arteriolar medial thickness never decreases – so, continued exposure of the pulmonary vascular bed to high systolic pressure→ high flow → pulm vascular obstructive disease develops• When the ratio of pulm to systemic resistance is 1:1, the shunt becomes bidirectional and the patient becomes cyanotic (Eisenmenger physiology).
  • 56. Clinical Manifestations:1. Small VSD: asymptomatic, normal growth2. Moderate to large: repeated chest infections, Effort intolerance ,fatigue , failure to thrive, pulmonary HTN3. If unoperated: Pulmonary HTN, cyanosis and decreased level of activity
  • 57. Physical examination1. Small VSD: well developed, acyanotic2. Moderate VSD: forceful LV impulse , prominent systolic thrill along the lower left sternal border
  • 58. Physical examinationLarge VSD: tachypneic, repeated chest infections, poor weight gain, CHF dyspnea, feeding difficulties, poor growth, profuse perspiration, recurrent pulmonary infections, and cardiac failure in early infancy.Reversal of shunt: cyanosis, clubbing, respiratory distress.
  • 59. Auscultation• Heart sounds• S1 : masked by pansystolic murmur• S2: masked but can be heard at 2nd lt ICS – widely split and variable, with accentuated P2 - single and loud (PAH)• S3: maybe audible at the apex
  • 60. Murmurs• Shunt - loud, harsh, or blowing pansystolic murmur grade 3-5/6 best heard at left 3rd & 4th interspaces is widely transmitted over the precordium at lower LSB• Flow –• Pulmonary : ejection murmur (drowned)• Mitral : rumbling delayed diastolic murmur at the cardiac apex, indicates a Qp:Qs of 2:1 or greater
  • 61. Fairly large perimembranous VSD in
  • 62. Chest radiography• Small VSDs -N• Medium- VSDs -minimal cardiomegaly and a borderline increase in pulmonary vasculature• Large VSDs – gross cardiomegaly . The pulmonary vascular markings are increased and frank pulmonary edema (Plethoric) if pul arterial HTN• Oligemic lung fields in reversal of shunt, pul stenosis
  • 63. Electrocardiography• Depends on shunt size & degree of pulmonary hypertension• Small VSDs - N tracing• Medium VSDs – broad, notched P wave ( left atrial overload), LVH• Large VSDs – RVH with right-axis deviation. With further progression - biventricular hypertrophy; P waves may be notched or peaked• RVH in Eisenmenger’s complex
  • 64. Echocardiography• Echo - Number, position & size of defect, chamber size• Two-dimensional echo – site, size of defect ,pul. stenosis or pul HTN
  • 65. General principles, techniques, and goals• Small VSDs – reassurance. Surgical repair is currently not recommended• Protection against IE - antibiotic prophylaxis for dental visits, tonsillectomy, adenoidectomy, and other oropharyngeal surgical procedures , instrumentation of the genitourinary and lower intestinal tracts
  • 66. Management:• Large VSDs Medical: Treatment of chest infection Control of heart failure Infective endocarditis prophylaxis Dental hygiene Frequent feeding of high calorie formula, correction of anemia Non-surgical closure with umbrella device
  • 67. Surgical• Repair of defect under open heart surgery• Clamshell-type catheter occlusion -closing apical muscular VSDs.• Transcatheter device closure - trabecular (muscular) and perimembranous VSDs
  • 68. Indications of surgery:• Large defects- if CHF not responding to medical management (within first 6 months of life)• After 1 year of age, significant LR shunt, Qp: Qs ratio at least 2:1 without pul HTN• Supracristal VSD of any size because of the high risk of aortic valve regurgitation
  • 69. Contraindication of surgery1. Severe pulmonary vascular disease2.Muscular septum VSDs , particularly apical defects and multiple (Swiss cheese–type)
  • 70. Outcomes• Excellent, and complications (eg, residual ventricular shunts) are rare.• Post surgery - size of the heart decreases to normal , thrills and murmurs abolished, and pulmonary artery hypertension• Catch-up growth-over the next 1-2 years• In some cases- systolic ejection murmurs of low intensity may persist for months.
  • 71. Natural history• Depends on the size of the defect• Small VSD – Spontaneous closure( 30-50%) during 1st yr of life (membranous & muscular defects)• Small muscular VSDs are more likely to close 80% than membranous VSDs 35%• The vast majority 45% close by age 4 years
  • 72. Natural history• Spontaneous closure has been reported in adults• Spontaneous closure of a perimembranous VSD (from tricuspid leaflet tissue apposition) or of a small muscular VSD during adulthood is uncommon (<10%)
  • 73. Mod to Large VSDs• Less commonly close spontaneously• CHF develops in large VSDs after 8 weeks of age• Repeated chest infection ,FTT• IE –independent of VSD size – rare in < 2yrs .risk is 2% above 2 yrs
  • 74. Natural History:• Pulmonary hypertension →pulmonary vascular disease (Eisenmenger syndrome• Aortic valve regurgitation - the greatest risk supracristal VSD
  • 75. Thank youDownload more documents and slide shows on The Medical Post [ ]