This document provides an overview of congenital heart disease in adults. It discusses the etiology, classification, and specific defects such as atrial septal defects, ventricular septal defects, patent ductus arteriosus, tetralogy of Fallot, and more. For each defect, the document outlines characteristics, pathophysiology, clinical presentation, diagnostic evaluation, and treatment options. The document is intended as an educational reference for healthcare providers.

1. CONGENITAL HEART DISEAE IN
ADULTS
DR. SUBODH KUMAR MAHTO
PGIMER,DR.RML HOSPITAL.
NEW Delhi

2. Overview
Introduction and etiology
Developmental anatomy
Classification
Specific cardiac defects
Atrial septal defect
A-V septal defects
Isolated Ventricular septal defect
Patent ductus arteriosus
Tetralogy of Fallot
Coarctation of aorta
Eisenmenger syndrome
Postoperative cardiac valvular residuae and sequelae

3. • Congenital cardiovascular disease is defined as an
abnormality in cardio circulatory structure or function that
is present at birth, even if it is disvovered in adult age.
• Congenital cardiovascular malformations usually result
from altered embryonic development of a normal structure
or failure of such a structure to progress beyond an early
stage of embryonic or fetal development.
• The aberrant patterns of flow created by an anatomic
defect, significantly influence the structural and functional
development of the remainder of the circulation.

4. ETIOLOGY
GENETIC FACTORS:
• Congenital cardiac malformations can occur with
mendelian inheritance directly as a result of a genetic
abnormality
• Any genetic disorder( e.g- trisomy)
• There is chance of 2-fold to 10-fold increase in the
incidence of CHD in siblings of affected patients.

5. Congenital heart disease associated
with genetic defects
DISEASES GENETIC DEFECTS
ASD with or without conduction block TBX5
ASD with conduction block GATA4
Perimembranous VSD TBX4, GATA4, 22q11del
TOF JAG1,PTPN11
PTA 22q11del
PDA TFA2β
AVSD CRELD1
BAV NOTCH1

6. CARDIAC DISEASES IN OFFSPRINGS IN PARENTS
WITH KNOWN CHD
• In general population chances of cardiac disease is 0.4-
0.6%. This increases to if there is an affected first degree
relatives of known CHD.
• Transmission rates is higher if the affected parent is mother
rather than father.
• Left heart obstructive lessions have higher rates of
transmission(13 to 18%).
• Autosomal dominant condition such as Noonan syndrome,
Marfan syndrome etc have 50% recurrence.

7. ENVIOURNMENTAL FACTORS:
• Maternal rubella infection in first/second trimester. Rubella
syndrome consists of cataracts, deafness microcephaly, and, either
singly or in combination, PDA, pulmonary valve stenosis and ASD.
• Ingestion of lithium during pregnancy may results in
tricuspid valve abnormalities( ebstein‘s anomaly)
• Chronic maternal alcohol abuse: The fetal alcohol syndrome
consists of microcephaly, micrognathia, microphthalmia, prenatal
growth retardation, developmental delay, and cardiac defects (often
defects of the ventricular septum) in about 45% of affected infants

8. • Specific defects can show a definite gender
preponderance.
• PDA, Ebstein anomaly of the tricuspid valve, and atrial
septal defect (ASD) are more common in females.
• Aortic valve stenosis, coarctation of the aorta,
hypoplastic left heart syndrome, pulmonary and tricuspid
atresia, and transposition of the great arteries (TGA) are
more common in males.

9. • CHD in the adult is not simply a continuation of the
childhood experience. The patterns of many lesions
change in adult life .
• Cardiac chambers often enlarge, and ventricles tend
to develop systolic dysfunction.
• Bioprosthetic valves prone to early failure in
childhood but last longer when they are implanted at
an older age

10. DEVOLOPMENTAL ANATOMY

11. HEART TUBE

12. DEVOLOPMENT OF INTER ATRIAL SEPTUM

13. DEVOLOPMENT OF INTER VENTRICULAR
SEPTUM

15. COSEQUENCES IN PATIENTS OF CHD
• Congestive heart failure
• Pulmonary hypertension
• Central cyanosis.
• Eisenmenger syndrome
• Cardiac arrythmia
• Infective endocarditis

17. ACYANOTIC
NORMAL/DECREASED INCREASED
PULMONARY BLOOD FLOW PULMONARY BLOOD FLOW
(LEFT TO RIGHT SHUNT)
MALFORMATIONS IN MALFORMATIONS IN VENTRICLE ATRIA
LEFT SIDE OF HEART RIGHT SIDE OF HEART VSD ASD
VSD WITH AR ASD WITH MS
AVSD. ACYANOTIC EBSTEIN’S ANOMALY.
CcTGA. PULMONARY STENOSIS.
ALCAPA. PRIMARY PHT.
AS. AORTIC ROOT AND RIGHT AP LEVEL
COARCTATION OF AORTA. SIDE OF HEART
CORONARY A-V FISTULA PDA
RUPTURED SINUS VALSALVA A-P WINDOW

18. CYANOTIC
INCREASED PULMONARY NORMAL/DECREASED
ARTERIAL FLOW PULMONARY ARTERIAL FLOW
C-TGA
TRUNCUS ARTERIOSUS
TAPVC RIGHT VENTRICLE LEFT VENTRICLE
TOF TRICUSPID ATRESIA
EBSTEIN`S ANOMALY
PULMONARY ATRESIA
PHT PRESENT PHT ABSENT
ASD WITH REVERSE SHUNT PS WITH VSD
VSD WITH REVERSE SHUNT DORV WITH PS
PDA WITH REVERSE SHUNT PS WITH C-TGA

19. INCIDENCE OF CONGENITAL HEART
DISEASES
CONGENITAL HEART DISEASE PERCENTAGE
Ventricular septal defect 30
Patent ductus arteriosus 10
Aortic stenosis 10
Pulmonary stenosis 10
Tetralogy of fallot 10
Atrial septal defect 07
Mitral valve prolapse 07
Coarctation of aorta 05
Transposition of the great arteries 05
Total anomalous pulmonary venous
connection
01
Tricuspid atresia 01

20. Specific cardiac defects

21. Atrial Septal Defect
• Left-to-Right Shunts
• Four types of ASDs or interatrial
communications exist:
1. ostium primum,
2. ostium secundum,
3. sinus venosus, and
4. coronary sinus defects

22. 90%
5%
5%

23. Clinical Features in adults[OSTIUM
SECUNDUM]
• the degree of left-to-right atrial shunting depends
on
– the size of the defect
– relative diastolic filling properties of the two
ventricles
• An undetected ASD with a significant shunt
(Qp/Qs > 1.5 : 1.0) probably causes symptoms
over time in adolescence or adulthood with
progressively more physical limitation with age

24. Clinical Features in adults
• Most common presenting symptom is exercise
intolerance and palpitations
• Effort dyspnea is seen in about 30% by the 3rd
decade and in >75% of by 5th decade
• Supraventricular arrhythmias (atrial fibrillation
or flutter) and RHF develop by 40 years [10%] of
patients ,more prevalent with aging
• Paradoxical embolism may result in TIA or stroke
• RHF in older patients
• Cyanosis in reversal of shunt

25. Clinical Features in adults
• On examination
– Left atrialization of JVP [A wave=V wave]
– A hyperdynamic right ventricular impulse may be felt
at the left strenal border
– A wide and fixed split of S2-auscultatory hallmark of
ASD
– A systolic ejection murmur, usually grade 2,often
scratchy, best heard at 2nd left intercostal space
– A mid-diastolic rumble ,from increased flow through
tricuspid valve may be present at the left lower sternal
border

26. • ECG-
– sinus rhythm/atrial fibrillation/flutter
– RAD in secundum ASD
– Negative P waves in inferior leads[sinus-venosus
superior vena cave defects]
– Complete RBBB may be present
• Chest x-ray
– Cardiomegaly [rt atrial+rt ventricular enlargement]
– Dilated central pulmonary arteries with pulmonary
plethora
– A small arotic knuckle

27. • main pulmonary artery (MPA)
• The right pulmonary artery (RPA)

28. • Echocardiography:
– Transthoracic echo documents the type and size
[defect diameter] of ASD
– Direction of shunt
– Sometimes anomalous pulmonary return
– Indirect measurement of pulmonary artery
pressure by doppler velocity of tricuspid
regurgitation jet
– TEE for better visualisation of interatrial septum

29. Indications for Intervention
• Hemodynamically insignificant ASDs (Qp/Qs < 1.5) do
not require closure, with the possible exception of
trying to prevent paradoxical emboli in older patients
after a stroke
• “Significant” ASDs (Qp/Qs > 1.5, or ASDs associated
with right ventricular volume overload) should be
closed, especially if device closure is available and
appropriate
• For patients with pulmonary hypertension closure
can be recommended if there is a net left-to-right
shunt of at least 1.5 : 1 or evidence of pulmonary
artery reactivity on challenge with a pulmonary
vasodilator

30. Intervention
• Device Closure-
– percutaneously under fluoroscopy and TEE or with
intracardiac echocardiographic guidance
– this technique is available only for secundum ASD
with a stretched diameter of <41 mm and with
adequate rims to enable secure deployment of the
device
– therapy of choice when appropriate
– major complications[1% ] -device embolization, atrial
perforation, thrombus formation
– clinical closure achieved in more than 90% of patients

31. • Surgery- by primary suture closure or by use
of a pericardial or synthetic patch
– sinus venosus
– ostium primum
– secundum defects with unsuitable anatomy
– improves functional status,exercise capacity and
survival in symptomatic patients especially when
patients are operated on at an earlier age

32. Reproductive Issues
– Pregnancy is well tolerated in patients after ASD
closure
– Pregnancy is also well tolerated in women with
unrepaired ASDs, but the risk of paradoxical
embolism is increased during pregnancy and in
the postpartum period
– Pregnancy is contraindicated in Eisenmenger
syndrome because of the high maternal (≈50%)
and fetal (≈60%) mortality

33. Atrioventricular Septal Defect
• atrioventricular canal defect/ endocardial
cushion defect
• The basic morphology of AV septal defect is common
to all types :
– absence of the muscular AV septum
– inlet/outlet disproportion[goose-neck deformity]
– abnormal lateral rotation of the posteromedial
papillary muscle
– abnormal configuration of the AV valves

34. • Apical four-chamber view in a complete atrioventricular
septal defect with a common atrioventricular valve orifice
(asterisk). Note the large interatrial and interventricular
communications and the large free-floating superior
bridging leaflet. LA = left atrium; LV = left ventricle; RA =
right atrium; RV = right ventricle

35. Partitioned Versus Complete
Atrioventricular Septal Defects
• A partitioned orifice is one in which the superior
and inferior leaflets are joined by a connecting
tongue of tissue as they bridge the
interventricular septum. This partitions the valve
into separate left and right orifices
• A common AV valve orifice is one in which there
is no such connecting tongue, resulting in one
large orifice that encompasses the left- and right-
sided components
• The term unbalanced AV septal defect refers to
cases in which one ventricle is hypoplastic

36. Pathophysiology of a primum ASD
• Native
– similar to that of a large secundum ASD, with
unrestricted left-to-right shunting through the
primum ASD, leading to right-sided atrial and
ventricular volume overload
– Chronic left AV valve regurgitation may produce left-
sided ventricular and atrial volume overload
– Complete AV septal defect has a greater degree of
left-to-right shunting from the primum ASD as well as
the nonrestrictive VSD, which triggers earlier left
ventricular dilation and a greater degree of pulmonary
hypertension

37. Clinical features of a primum ASD
• Patients may be asymptomatic until 3rd-4th
decade, but progressive symptoms related to
congestive heart failure, atrial arrhythmias,
complete heart block, and variable degrees of
pulmonary hypertension develop in virtually
all of them by the fifth decade
• When presenting unrepaired, most adults
have established pulmonary vascular disease

38. – Down syndrome occurs in 35% of patients with AV
septal defect. They often present in infancy with
pulmonary hypertension
– In non–Down Syndrome clinical presentation depends
on the presence and size of the ASD and the VSD and
on the competence of the left AV valve
– A large left-to-right shunt gives rise to symptoms of
heart failure (exertional dyspnea or fatigue) or
pulmonary vascular disease (exertional syncope,
cyanosis)
– In adulthood, palpitations from atrial arrhythmias are
common

39. Physical examination in isolated shunt at atrial level
• similar to secundum ASD, addition of a prominent left
ventricular apex and pansystolic murmur when
significant left AV valve regurgitation is present
• Cases with a primum ASD and a restrictive VSD have
similar findings but with the addition of a pansystolic
VSD murmur heard best at the left sternal border
• Complete AV septal defects have a single S1 ,a mid-
diastolic murmur from augmented AV valve inflow, and
findings of pulmonary hypertension or a right-to-left
shunt

40. Laboratory Investigations
• ECG-
– left-axis deviation
– Complete AV block /atrial fibrillation / flutter can be
present in older patients
– Partial or complete RBBB
• Chest Radiography-
– Unrepaired:cardiomegaly ,right atrial and right ventricular
prominence , increased pulmonary vascular markings
– In cases with a small interatrial communication and
important left AV valve regurgitation, there is
cardiomegaly due to left ventricular enlargement and
normal pulmonary vascular markings

41. • Echocardiography:
– In the four-chamber view, the AV valves appear at the
same level
– The typical inferior ASD and the posteriorly
positioned VSD will be sought
– The degree of associated AV valve regurgitation, the
left-to-right shunt, and the estimated right
ventricular systolic pressure can be determined
• Cardiac Catheterization- evaluation of the patient
with pulmonary vascular or coronary disease

42. • Indications for Intervention
– The patient with an unrepaired or newly diagnosed
AV septal defect and significant hemodynamic
defects requires surgical repair
– Equally, patients with persistent left AV valve
regurgitation (or stenosis from previous repair)
causing symptoms, atrial arrhythmia, or deterioration
in ventricular function, and
– patients with significant subaortic obstruction (a
mean gradient >50 mm Hg at rest) require surgical
intervention

43. Interventional Options and Outcomes
• Isolated Shunt at Atrial Level (Primum Atrial
Septal Defect)-
– Pericardial patch closure of the primum ASD with
concomitant suture (with or without
annuloplasty) of the “cleft” left AV valve is usually
performed
– When left AV valve repair is not possible,
replacement may be necessary

44. • Complete Atrioventricular Septal Defect-
– The goals of intracardiac repair are ventricular
and atrial septation with adequate mitral and
tricuspid reconstruction
– Both single- and double-patch techniques to
close ASDs and VSDs have been described with
comparable results
– left AV valve replacement is necessary when valve
repair is not possible

45. After Correction
– Residual significant left AV valve regurgitation
may occur and cause significant left atrial as well
as left ventricular dilation
– Left AV valve stenosis from overzealous repair of
the valve may also occur
– The long, narrow left ventricular outflow tract of
AV septal defect promotes left ventricular
outflow tract obstruction and leads to subaortic
stenosis in about 5% of patients.

46. Isolated Ventricular Septal Defect

47. Isolated Ventricular Septal Defect
• VSDs are classified into three main categories
according to their location and margins
– Membranous VSDs[80%] often have inlet, outlet, or
trabecular extension and are bordered in part by
fibrous continuity between the leaflets of an AV valve
and an arterial valve
– Muscular VSDs are bordered entirely by myocardium
and can be trabecular, inlet, or outlet in location
– Doubly committed subarterial VSDs are more
common in Asian patients, are situated in the outlet
septum, and are bordered by fibrous continuity of the
aortic and pulmonary valves

48. • Pathophysiology
– A restrictive VSD is a defect that produces a significant
pressure gradient between the left ventricle and the right
ventricle (pulmonary-to-aortic systolic pressure ratio < 0.3)
and is accompanied by a small (≤1.4 : 1) shunt
– A moderately restrictive VSD is accompanied by a
moderate shunt (Qp/Qs of 1.4 to 2.2 : 1) with a pulmonary-
to-aortic systolic pressure ratio less than 0.66
– A large or nonrestrictive VSD is accompanied by a large
shunt (Qp/Qs > 2.2) and a pulmonary-to-aortic systolic
pressure ratio greater than 0.66
– An Eisenmenger VSD has a systolic pressure ratio of 1 and
Qp/Qs < 1 : 1 or a net right-to-left shunt

49. Natural History
• A restrictive VSD does not cause significant hemodynamic
derangement and may close spontaneously
• A perimembranous defect in an immediately subaortic
position, or any doubly committed VSD, may be associated
with progressive aortic regurgitation, late development of
subaortic and subpulmonary stenosis and the formation of a
left ventricular to right atrial shunt
• A moderately restrictive VSD imposes a hemodynamic
burden on the left ventricle, which leads to left atrial and
ventricular dilation and dysfunction as well as a variable
increase in pulmonary vascular resistance
• A large or nonrestrictive VSD features left ventricular volume
overload early in life with a progressive rise in pulmonary
artery pressure and a fall in left-to-right shunting leading
eventually to Eisenmenger syndrome

50. Laboratory Investigations
• Transthoracic echocardiography can identify
– the location,
– size, and
– any associated lesions (aortic regurgitation, right
ventricular outflow tract obstruction, or left
ventricular outflow tract obstruction)
• Cardiac Catheterization
– for hemodynamic significance of a VSD
– assessment of pulmonary artery pressures and
resistance
– therapeutic catheterization for percutaneous closure

51. • Indications for Intervention-
– presence of a significant VSD in the absence of
irreversible pulmonary hypertension warrants surgical
closure
– the symptomatic patient shows a Qp/Qs > 1.5 : 1
– pulmonary artery systolic pressure > 50 mm Hg
– increased left ventricular and left atrial size, or
deteriorating left ventricular function
• If severe pulmonary hypertension is present,
closure is seldom feasible
• relative indications for VSD closure
– presence of a perimembranous or outlet VSD with
more than mild aortic regurgitation
– a history of recurrent endocarditis

52. Interventional Options and Outcomes
• Surgery
– closure by direct suture or with a patch
– has low perioperative and a high closure rate
• Device Closure
– transcatheter device closure has been successful
in of trabecular (muscular) and perimembranous
VSDs
– complete closure in 96% of patients

53. Patent Ductus Arteriosus

55. Isolated PDAs are often categorized according to
the degree of left-to right shunting, which is
determined by both the size and length of the duct
and the difference between systemic and
pulmonary vascular resistances, as follows:
• Silent: tiny PDA detected only by nonclinical means (usually
echocardiography)
• Small: continuous murmur common; Qp/Qs < 1.5 : 1
• Moderate: continuous murmur common; Qp/Qs of 1.5 to
2.2 : 1
• Large: continuous murmur present; Qp/Qs > 2.2 : 1
• Eisenmenger: continuous murmur absent; substantial
pulmonary hypertension, differential hypoxemia, and
differential cyanosis (pink fingers, blue toes)

56. Clinical features
• A small ductus + a small shunt -may predispose to
endarteritis
• A moderate-sized duct and shunt -left ventricular
dilation and dysfunction
• A large duct results initially in left ventricular volume
overload but develops a progressive rise in
pulmonary artery pressures and eventually
irreversible pulmonary vascular changes by 2 years of
age
• small audible duct may have a grade 1 or 2
continuous murmur peaking in late systole and best
heard in the first or second left intercostal space

57. • a moderate-sized duct may present
– with dyspnea or palpitations from atrial arrhythmias
– A louder continuous or “machinery” murmur in the
first or second left intercostal space
– typically accompanied by a wide systemic pulse
pressure from aortic diastolic runoff into the
pulmonary trunk
– signs of left ventricular volume overload, such as a
displaced left ventricular apex
– sometimes a left-sided S3

58. • Adults with a large uncorrected PDA
eventually present with a short systolic
ejection murmur, hypoxemia in the feet more
than in the hands (differential cyanosis), and
Eisenmenger physiology

59. Laboratory Investigations in Full-Term
Infants, Children, and Adults
• Electrocardiography
– A moderate duct may show left ventricular
volume overload with broad, notched P waves
together with deep Q waves, tall R waves, and
peaked T waves in V5 and V6
– A large duct with Eisenmenger physiology
produces findings of right ventricular hypertrophy.

60. • Chest Radiography
– A moderate-sized duct causes moderate cardiomegaly
with left-sided heart enlargement, a prominent aortic
knuckle, and increased pulmonary perfusion
– Ring calcification of the ductus may be seen through
the soft tissue density of the aortic arch or pulmonary
trunk in older adults
– The large PDA produces an Eisenmenger appearance
with a prominent aortic knuckle
• Echocardiography
– determines the presence, size, and degree of shunting

61. X-ray chest from 22-year-old lady with large patent ductus
arteriosus and severe pulmonary hypertension. Normal heart size,
dilated pulmonary artery segment, and central pulmonary arteries
suggest advanced pulmonary vascular disease

62. Indications for Intervention
• Haemodynamically important PDA need to be
closed
• Inaudible or small PDA : debatable [?reduce
the risk of endarteritis]
• Contraindications : irreversible pulmonary
hypertension and active endarteritis

63. Interventional Options and Outcomes
• Transcatheter ductal closure
– method of choice
– efficacy and safety in ducts smaller than 8 mm have been
established
– complete closure [>85%] of patients by 1 year
– mortality rate 1%
• Surgical Treatment
– by ductal ligation or division
– marginally greater closure rate
– mortality in adults is 1% to 3.5%
– reserved for those in whom the PDA is too large for device
closure

64. Tetralogy of Fallot

65. Tetralogy of Fallot
• Morphology: four components
1) an outlet VSD,
2) obstruction to right ventricular outflow,
3) overriding of the aorta (>50%), and
4) right ventricular hypertrophy
• The fundamental abnormality contributing to
each of these features is anterior and cephalad
deviation of the outlet septum, which is
malaligned with respect to the trabecular septum

66. 1, pulmonary stenosis; 2, ventricular septal defect;
3, overriding aorta; 4, right ventricle hypertrophy

67. Associated Anomalies
• In the most common anomaly, the anterior descending artery
originates from the right coronary artery and courses
anteriorly to cross the infundibulum of the right ventricle
• A right aortic arch occurs in about 25% of patients
• abnormalities of the course of the coronary arteries occur in
approximately 5%
• Absent pulmonary valve syndrome is a rare form of tetralogy
in which stenosis and regurgitation of the right ventricular
outflow tract are due to a markedly stenotic pulmonary valve
ring with poorly formed or absent valve leaflets
• The pulmonary arteries are usually markedly dilated or
aneurysmal

68. Pathophysiology
• In the absence of alternative sources of
pulmonary blood flow, the degree of cyanosis
reflects the severity of right ventricular
outflow tract obstruction and the level of
systemic vascular resistance
• There is right-to-left shunting across the VSD
• Survival to adult life is rare without palliation
or correction

69. Clinical Features
• Unrepaired Patients
– Variable cyanosis exists
– A right ventricular impulse and systolic thrill are
often palpable along the left sternal border
– An early systolic ejection sound that is aortic in origin
may be heard at the lower left sternal border and
apex;
– the S2is usually single
– The intensity and duration of the systolic ejection
murmur vary inversely with the severity of subvalve
obstruction
– no murmur/faint murmur inextreme outflow tract
stenosis or pulmonary atresia

70. After Surgery, Palliated
• Progressive cyanosis with its complications
can result from
– worsening right ventricular outflow tract
obstruction
– gradual stenosis and occlusion of palliative
aortopulmonary shunts
– development of pulmonary hypertension
(sometimes seen after Waterston or Potts shunts)
• Progressive aortic dilation and aortic
regurgitation may occur

71. After Surgery, Repaired
• >85% of patients are asymptomatic on follow-up
• Palpitations ,exertional dyspnea
• An ascending aortic aneurysm and progressive
aortic regurgitation from a dilated aortic root
• A parasternal right ventricular lift and a soft and
delayed P2 with a low-pitched diastolic murmur
from pulmonary regurgitation may exist
• a pansystolic murmur from a VSD patch leak may
also be heard

72. Tetralogy of Fallot with Pulmonary
Atresia and Major Aortopulmonary
Collateral Arteries
• This subgroup represents one of the greatest
challenges in CHD
• The aim of unifocalization surgery is to
amalgamate all the sources of pulmonary blood
flow and to establish unobstructed right
ventricular to pulmonary artery continuity while
achieving a normal pulmonary artery pressure
and a closed ventricular septum
• a combined interventional catheterization and
surgical approach may be indicated

73. • Electrocardiography
– RAD with RVH and RAH is common
– In adults with repaired tetralogy of Fallot, a
complete RBBB after repair has been the rule
– QRS width may reflect the degree of right
ventricular dilation and, when extreme (>180
milliseconds) or rapidly progressive, may be a risk
factor for sustained ventricular tachycardia and
sudden death

74. • Chest Radiography
– Characteristically, there is a normal-sized, boot-
shaped heart (coeur en sabot) with prominence
of the right ventricle and a concavity in the region
of the underdeveloped right ventricular outflow
tract and main pulmonary artery
– The pulmonary vascular markings are typically
diminished, and the aortic arch may be on the
right side (25%)
– The ascending aorta is often prominent

75. • Echocardiography
– A complete diagnosis can usually be established by
Doppler echocardiography alone
– Identification of the malaligned and nonrestrictive
VSD and overriding aorta (>50%) and the presence
and degree of right ventricular outflow tract
obstruction (infundibular, valvular, or pulmonary
arterial stenosis)
• Cardiac catheterization is now rarely required
when there are additional sources of pulmonary
blood flow

76. Indications for Intervention
• Adults, Unrepaired
– surgical repair is recommended because the results
are gratifying and the operative risk is comparable to
that of pediatric series, provided there is no serious
coexisting morbidity
• palliated patients with increasing cyanosis and
erythrocytosis (from gradual shunt stenosis or
development of pulmonary hypertension), left
ventricular dilation, or aneurysm formation in the
shunt should undergo intracardiac repair with
takedown of the shunt unless irreversible
pulmonary hypertension has developed

77. • Repaired-following situations may warrant
intervention after repair:
1. a residual VSD with a shunt greater than 1.5 : 1
2. residual pulmonary stenosis (either the native right
ventricular outflow or valved conduit if one is
present) with right ventricular systolic pressure two
thirds or more of systemic pressure
3. or severe pulmonary regurgitation associated with
substantial right ventricular dilation or dysfunction
(i.e., right ventricular diastolic volume index >150 to
170 mL/m2 or a right ventricular ejection fraction
<45%)
4. exercise intolerance, or sustained arrhythmias

78. • Surgery is occasionally necessary for
significant aortic regurgitation associated
with symptoms or progressive left ventricular
dilation and for aortic root enlargement of
55 mm or more
• Rapid enlargement of a right ventricular
outflow tract aneurysm needs surgical
attention.

79. Interventional Options
• Surgery-
– Reparative surgery involves closure of the VSD
with a Dacron patch and relief of the right
ventricular outflow tract obstruction. The latter
may cause pulmonary regurgitation
– A PFO or secundum ASD may be closed
– Additional treatable lesions, such as muscular
VSDs, PDAs, and aortopulmonary collaterals,
should also be addressed at the time of surgery

80. – For persistent right ventricular outflow tract
obstruction, resection of residual infundibular
stenosis or placement of a right ventricular
outflow or transannular patch, with or without
pulmonary arterioplasty, can be performed
– Pulmonary valve replacement (either homograft
or xenograft) is used to treat severe pulmonary
regurgitation. Concomitant tricuspid valve
annuloplasty may be performed for moderate or
severe tricuspid regurgitation

81. • Transcatheter
– Percutaneous pulmonary valve replacement can be
performed
– At present, these therapies are reserved primarily for
those patients with circumferential right ventricle–
pulmonary artery conduits (i.e., homografts, valved
conduits) measuring ≤22 mm
• Implantable Cardioverter-Defibrillator
– The selection of appropriate candidates remains
controversial
– ICDs are probably most beneficial in “high-risk patients”
(e.g., prior palliative shunt, QRS >180 milliseconds,
inducible ventricular tachycardia, and left ventricular
dysfunction) and are probably best reserved for those with
a high annual risk (≥3.5% per year) of sudden cardiac
death

82. Coarctation of the Aorta

83. Valvular and Vascular Conditions
• Left Ventricular Outflow Tract Lesion
Coarctation of the Aorta-
Aortic arch obstruction can be divided into
(1) localized coarctation close to a PDA or
ligamentum,
(2) tubular hypoplasia of some part of the aortic
arch system, and
(3) aortic arch interruption.

84. Localized Aortic Coarctation
• Clinical Features
– two to five times more commonly in males
– a high degree of association with gonadal
dysgenesis (Turner syndrome) and bicuspid aortic
valve
– Other common associated anomalies include VSD
and mitral stenosis or regurgitation

85. • The left image is a specimen that shows the site of the
posterior shelf, as outlined by the arrow
• The right image is from a CMR examination and shows
the posterior shelf and some associated transverse
arch hypoplasia. B, Angiogram of a coarctation of the
aorta, before and after stenting. AO, aorta; DA,
descending aorta.

86. • Inferior rib notching (white arow)
• figure 3 sign of the aorta (black arrow)

87. Clinical Features
in Adults
• Simple coarctation, detected de novo in adults
• Associated abnormalities include bicuspid aortic valve in
most cases (80%), intracranial aneurysms (most commonly
of the circle of Willis) in 2% to 10%, and acquired
intercostal artery aneurysms
• One definition of significant coarctation requires a gradient
greater than 20 mm Hg across the coarctation site at
angiography with or without proximal systemic
hypertension
• A second definition of significant coarctation requires the
presence of proximal hypertension in the company of
echocardiographic or angiographic evidence of aortic
coarctation

88. Clinical Features
in Adults
• Patients can be asymptomatic, or they can
present with minimal symptoms of epistaxis,
headache, and leg weakness on exertion or
more serious symptoms of congestive heart
failure, angina, aortic stenosis, aortic dissection,
or unexplained intracerebral hemorrhage
• upper limb systemic hypertension as well as a
differential systolic blood pressure of at least
10 mm Hg (brachial > popliteal artery pressure)
• Radial-femoral pulse delay is evident unless
significant aortic regurgitation coexists

89. • Auscultation may reveal an interscapular
systolic murmur emanating from the
coarctation site and a widespread crescendo-
decrescendo continuous murmur throughout
the chest wall from intercostal collateral
arteries
• Funduscopic examination can reveal
“corkscrew” tortuosity of retinal arterioles

90. Interventional Outcomes
• Surgical-
– After surgical repair of simple coarctation, the
obstruction is usually relieved, with minimal
mortality (1%).
– prevalence of recoarctation varies widely from 7%
to 60%
– True aneurysm formation at the site of coarctation
repair has a reported incidence between 2% and
27%

91. • Transcatheter-
– After balloon dilation aortic dissection, restenosis,
and aneurysm formation at the site of coarctation
have been documented
– Prior hypertension resolves in up to 50% of
patients but may recur later in life
– Endocarditis or endarteritis can occur at the
coarctation site or on intracardiac lesions

92. • Follow-Up-
– every 1 to 3 years
– attention should be directed toward residual
hypertension, heart failure, intracardiac disease
(such as an associated bicuspid aortic valve which
can become stenotic or regurgitant later in life), or
an ascending aortopathy sometimes seen in the
presence of bicuspid aortic valve

93. • Complex Coarctation
– In some instances, the coarctation of the aorta is
part of a more complex spectrum of lesions
– This can be seen in cases with double-outlet right
ventricle, cc-TGA, d-TGA, functionally single
ventricle, truncus arteriosus, and AV septal defect
– The current trend is to complete repair of the
intracardiac lesion at the same time as the arch
repair.

94. Eisenmenger Syndrome

95. Eisenmenger Syndrome
• Coined by Paul wood
• Defined as pulmonary vascular obstructive
disease that develops as a consequence of a
large preexisting left o right shunt such that
pulmonary artery pressure reaches systemic
levels and the direction of flow becomes
bidirectional or right to left
• CHD causing Eisenmenger Syndrome- ASD, VSD,
PDA as well as more complex defects, such as AV
septal defect, truncus arteriosus, aotopulmonary
window, and univenricular heart

96. Naural history of the unrepaired
patient
• Wih defects hat allow free communication
between the pulmonary and systemic circuits at
aortic or ventricular levels-
• Patients usually have a fairly healthy childhood
and gradually become overtly cyanotic during 2nd
or 3rd decade
• Exercise intolerance is proportional to degree of
hypoxemia or cyanosis
• Most paients survive to adulthood with a 77%
and 42% survival rate at 15 and 25 yr of age

97. • Congestive heart failure in patients with
Eisenmenger Syndrome usually occurs after
40 yrs of age
• Most common mode of death are- sudden
death[30%], congestive heart failure[25%],
pulmonary hemorrhage[15%], Pregnancy,
perioperative mortality after noncardiac
surgery and infections

98. Clinical manifestations
• Palpitations[50%]
• Hemoptysis[20%]
• Pulmonary hromboembolism
• Angina [10%]
• Syncope [10%]
• Endocarditis [10%]
• Physical examination may reveal central
cyanosis and clubbing

99. • JVP may be normal or elevated
• Signs of pulmonary hypertension- rt ventricular
heave, palpable and loud p2, and right sided s3
are typically present
• A pulmonary ejection click and a soft and
scratchy ejection systolic ejection murmur due to
dilatation of pulmonary trunk may be present
• A high pitched decrescendo diastolic murmur of
pulmonary regurgitation may be present
• Peripheral oedema in RHF

100. Laboratory Investigations
• ECG-peaked P waves,RVH, RAD, atrial
arrhythmias
• CXR-dilated central pulmonary arteries with
rapid tapering of peripheral pulmonary
vasculature-hallmark
• Pulmonary artery calcification may be seen-
diagnostic of longstanding pulmonary
hypertension. Large C/T ratio in ASD

101. • Echo-intracardiac defect with bidirectional
shunting
• Assessment of pulmonary rt ventricular function
– prognostic value
• Cardiac catheterization-direct measurement of
pulmonary artery pressure,assessment of
reactivity of pulmonary vasculature
• Open lung biopsy-only when reversibility of
pulmonary hypertension from hemodynamic
data

102. Indications for intervention
• Main intervention are directed toward prevention of
complication-eg. Influenza and pneumococcal
Vaccination to reduce morbidity of respiraory
infections
• Iron replacement for iron deficiency
• Aniarrhythmic management
• Diuretics for RHF
• When patients are seriously incapacitated from
severe hypoxemia or congesive heart failure , the
main intervention available is lung transplantation+
repair of cardiac defect or heart-lung ransplanation-
reserved for patiens without conraindiacions with a
1yr survival of <50%

103. Interventional options and outcomes
• Supplemental oxygen though recommended
for during air travel, haS shown no benefit
over morbidity or mortality
• Transplantation-offers best hope to end stage
CHD
• 3yr survival rate after heart-lung
transplantation for CHD is 50%

104. Medical therapy
• Endothelin receptor antagonists-according to
studies Bosentan as 125mg BD showed an
improvement in functional class and increased
resting oxygen saturation
• Phosphodiesterase inhibitors-sildenafil –
improves the 6 min walk test and pulmonary
artery pressure, functional class and cardiac
output

105. Follow up
• Education regarding avoidance of
dehydration,smoking, high altitude exposure
and excessive physical activity
• Avoidance of pregnancy is of paramunt
importance
• Annual influenza vaccination, influenza
vaccine,endocarditis prophylaxis with proper
skin hygiene

106. Congenitally Corrected Transposition
of the Great Arteries
• There is both atrioventricular discordance[the
atria are connectedto the opposite ventricles]
and ventriculoarterial discordance[the ventricles
are connected to the opposite great vessels]
• L-transposition[levo] of great vessels,because the
defect is formed when the primitive cardiac tube
rotates to the left during embryogenesis, instead
of its normal rightward rotation

108. • The associated cardiac anomalies are VSD, single
ventricle, left sided Ebstein’s anomaly, pulmonic or
subpulmonic stenosis and abnormal AV conduction
system
• Clinical features
• S1 may be reduced in intensity
• S2 is generally single and loud because of anteriorly
placed aorta
• ECG-disturbances of AV conduction, PR prolongation,
even complete heart block may be seen

109. Indications for Intervention and
Reintervention
• If moderate or severe systemic (tricuspid, left) AV valve
regurgitation develops, valve replacement should be considered.
• It should be performed before systemic right ventricular function
deteriorates, namely, at an ejection fraction of 45% or more
• When tricuspid regurgitation is associated with poor systemic
(right) ventricular function, the double-switch procedure should
perhaps be considered,
• Patients with end-stage symptomatic heart failure should be
referred for cardiac transplantation. The presence of a
hemodynamically significant VSD (Qp/Qs > 1.5 : 1) or residual VSD
with significant native or postsurgical (conduit) pulmonary outflow
tract stenosis may require surgical correction
• Pacemaker implantation is usual when complete AV block is present

110. Peripheral Pulmonary Artery Stenosis
• The lesion exists as a continuum, ranging from
isolated valvular stenosis to complete atresia of
pulmonary outflow tract
• It usually resents in neonatal period
• In adults it presents as isolated mild to moderate
right ventricular outflow tract obstruction which
is generally asymptomatic
• It may occur at various levels-
supravalvular,valvular,infundibular and
subinfundibular

111. • Supravalvular pulmonary stenosis is often a manifestation
of congenital rubella syndrome
• Reduced right ventricular compliacne may raise right atrial
pressure enough to force open the foramen ovale, with
resultant right to left shunt
• Dyspnoea, fatigue and central cyanosis may develop
• JVP is raised,S2 is widely split, a harsh loud ejection systolic
murmur may be heard over left parasternal area
• ECG shows RVH
• Mild stenosis –medical management
• Severe stenosis-corrective surgery [ pulmonary balloon
valvuloplasty is preferred]

112. Postoperative cardiac valvular residuae
and sequelae
• Residuae are valvular abnormalities that
remain after operations for congenital
anomalies of heart
• Sequelae are changes ocuring later in
congenital malformed cardiac valves subjected
to direct operative manipulation to relieve
stenosis and/or regurgitation

113. Residuae
• Mitral valve prolapse as residuaemay be seen
in association with
– Secundum type atrial septal defect
– Ebstein anomaly of the tricuspid valve
– Marfan and Marfan-like syndrome
– Hypertrophic cardiomyopathy
• Mitral regurgitation may be present with
anomalous origin of the left main coronary
artery from the pulmonary trunk

114. Tricuspid valve
• These have real and potential damage after
clusure of ventricular septal defect-as closure
of a perimembranous or high ventricular
septal defects requires manipulation of the
septal and anterior tricuspid valves

115. Aortic valve
• Bicuspid or unicuspid valve is seen with aortic
isthmic coarctation
• Bicuspid aortic valve are associated with 3
major complications-
1. Aortic valve stenosis
2. Pure aortic regurgitation not associated with
infective endocarditis
3. Infective endocarditis causing aortic
regurgitation or embolic complications

116. • Aortic regurgitation
• associated with closure of ventricular septal
defect
• With persistent truncus arteriosus-after
operation the truncal valve becomes the
aortic valve. Aortic regurgitation will occur late
post-operatively because of inability of the
previously dilated trunk to contract sufficiently
+ relative poor support of semilunar valves

117. Sequelae
• Pulmonary valve
– In patients with severe pulmonic valve stenosis
with intact ventricular septum the peak
ventricular systolic pressure is always very high.
although the valvulotomy may relieve the
obstruction and drastically lower the closing
pressure of the valve, the valve remains abnormal
and the valve orifice is incompetent
– Pulmonic regurgitation after correction of TOF

118. Aortic valve
• In aortic valve stenosis- valvulotomy in the
presence of unicuspid ,unicommisural valve
virtually assures the presence of some degree
of aortic regurgitation

119. Thank
you