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
4. spontaneous diminution in size,
remain stable for many years,
operative or catheter based closure,
go on to develop progressive pulmonary vascular
obstruction.
7. The natural history depends on
Size of the defect
Rt. & Lt. ventricular diastolic compliance
Pulmonary-to-systemic vascular resistance
8. 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
9. 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
10. 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
11. 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
12.
13. 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.
14.
15. 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
16. 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.
17. 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
18. Berger et al. reported an atrial fibrillation
prevalence of
15% in those 40–60 years of age
61% among those older than 60 years.
19.
20. 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.
21.
22.
23.
24. 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
25. 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
26.
27. 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
28. 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–
29.
30. 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
31.
32. Anterior more common than posterior
Usually involves the infundibular septum
Occurs as if there is a door that moves round on a
hinge
33. 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
34.
35.
36. Cardiac failure
Spontaneous diminution in size or closure
Right or Left ventricular outflow tract obstruction
Aortic regurgitation
Pulmonary vascular obstructive disease
Infective endocarditis
37. 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
38. 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.
39. 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.
41. 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
42. 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.
43. 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
44. 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.
45. 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
46. 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.
47. 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
48. 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
49. Komai H et al.Ann Thorac Surg 64:1146-1149, 1997
50. 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.
51. 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
52. Usually above the ventricular septal defect
Etiology:-
Progression of the pre-existing lesion
Acquired
Two types:-
Muscular
Fibromuscular
53. 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.
54. 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
55. 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
56. 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.
57. 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
58.
59. 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
60. 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.
61.
62.
63.
64. 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.
65. 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.
66. 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.
67. 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
68. 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
70. 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
71.
72. 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
73. 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
76. 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
77. 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.
78. No definite data on incidence
“Differential cyanosis”
Eisenmenger patients do not tolerate PDA closure
79. 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.
80. Coils closure for <3 mm, >97% success, zero mortality
Larger PDAs - specialized devices
>98% complete closure rate at 6 months
81. 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
82. 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.
83. 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
84.
85. 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.
86. 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.
87. 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.
88. 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
89. 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
90.
91. 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
92. 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.
93. 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.
94. 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.
95. 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.
96. 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.
97. 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.
98. 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.
99. 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
100. 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.
101. 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.
102. 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.
103. 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.
104. 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.
105.
106.
107. 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.
108. 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.
109.
110. 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
111. 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
112.
113.
114. • 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
115. • 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.
116.
117. 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.
118. 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.
119. 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.
120. 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%.
121. 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.
122. 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%.
123. 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.
124. 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.
125. 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).
126. 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
127. 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).
128. 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.
129.
130. 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.
131. 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.
132. 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.
133. 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.
134. 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
135. 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 .
136. 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
137. 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.
138.
139. 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.
140. 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.
141. 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.
142. 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.
143. 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.
144. 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.
145. 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
146.
147. 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.
148. 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.
149. 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.
150. 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.
151.
152. 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
153. 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
154. 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.
155. 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
156. 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.
157. Infant mortality is related to congestive heart
failure.
Survival is then relatively constant, with an
attrition rate of approximately 1% to 2% year.
158. 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
159. 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
160. 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.
161. 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
162. 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.
163. 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.
164. 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%.
165. 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.
166.
167.
168. 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.
169. 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.
170. The clinical manifestations closely resemble
Fallot’s tetralogy.
171. DORV+sub pulmonary VSD
resemble complete transposition of the great
arteries with a nonrestrictive ventricular septal
defect
172. 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.
173. 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.
174.
175. Equal frequency in males and females.
Truncus arteriosis has been reported with
chromosome 22q11 deletion, trisomy 18,and
trisomy 21.
176. 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.
177. 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.
178. 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.
179. 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).
180. 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.
181. 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.
182. Prognosis better when compared to complete
AVCD especially with minimal LAVR(left AV
regurgitation).