1. Congenital Heart Disease in Adults

3. Background 8/1000 Live born births 32,000 cases/yr
Liveborn prevalence lower than fetal prevalence
Fetal echo
20% die within first year
80% of first year survivors reach adulthood
Prevalence 800,000 adults in U.S.
Focus on Adult congenital heart disease

4. Atrial Septal Defect One third of adult patients with CHD F:M=2:1
Secundum (75%)
Primum 15%
Sinus Venosus 10%

5. ASD

6. ASD

7. ASD

8. ASD Associated Abnormalities
MVP
Cleft Mitral Leaflet MR (Primum)
Anomalous Pulmonary Venous Return
Sinus Venosus

9. ASD Physiology Increased flow L-R Increased Right sided blood flow
High-low pressure
Increased Right sided blood flow
Dilation of RA, RV and PA

10. ASD Clinical Presentation
No symptoms until third or fourth decades of life despite pulmonary to systemic flow (Qp:Qs) of 1.5 or more
Over the years, the increased volume of blood usually causes right ventricular dilatation and failure
Fatigue or dyspnea on exertion
Supraventricular arrhythmias
Paradoxical embolism, or recurrent pulmonary infections
Death from RV failure or Arrhythmias in 40-50’s if uncorrected

11. Physical Exam
Right ventricular or pulmonary arterial impulse may be palpable.
Wide and fixed splitting of the second heart sound
Increased blood flow in PA
A systolic ejection murmur second left intercostal space (pulmonic)
usually so soft that it is mistaken for an “innocent”flow murmur.
Flow across the atrial septal defect itself does not produce a murmur.

12. ASD EKG Right-axis deviation Incomplete right bundle-branch block
R’ > R in V1
Left-axis deviation occurs with ostium primum defects
1-deg AVB, “notched s wave II”
A junctional or low atrial rhythm (inverted P waves in the inferior leads) occurs with sinus venosus defects.
Normal sinus rhythm for the first three decades of life, after which atrial arrhythmias may appear.

13. Secundum EKG

14. Primum EKG

15. ASD CXR Prominent pulmonary arteries
Peripheral pulmonary vascular pattern
Small pulmonary arteries well visualized in periphery
RAE/RVE when advanced

16. ASD CXR

17. ASD Echo RAE/RVE Direct visualization of Primum and Secundum defects
Sinus venosus defects require TEE
Microbubbles to assist with diagnosis

18. ASD Echo

19. ASD Primum

20. ASD Treatment
Qp:Qs 1.5 or more should be closed to prevent right ventricular dysfunction
Not recommended if irreversible pulmonary hypertension
Prophylaxis against infective endocarditis not recommended repaired or unrepaired
Except for first 6 months after closure

21. Percutaneous Closure

23. VSD

24. VSD Most common congenital cardiac abnormality in infants and children
M:F=1:1
25-40 percent close spontaneously by 2 y.o.
90 percent of those that eventually close do so by age10
70% are membranous, 20% muscular
5% just below the aortic valve (undermining the valve annulus and causing regurgitation),

25. VSD Physiology Initially left-to-right shunting predominates
Over time pulmonary vascular resistance increases and left-to-right shunting declines
Eventually the pulmonary vascular resistance exceeds the systemic resistance and right to left shunting begins

26. VSD Exam With left-to-right shunting and no pulmonary hypertension
left ventricular impulse is dynamic and laterally displaced
murmur is holosystolic, loudest at the lower left sternal border usually accompanied by a palpable thrill
A short mid-diastolic apical rumble (caused by increased flow through the mitral valve) may be heard

27. VSD Exam
Small, muscular VSD may produce high frequency systolic ejection murmurs that terminate before the end of systole
High pressure, small defect
defect is occluded by contracting heart muscle.
If pulmonary hypertension develops, RV heave and a pulsation over the pulmonary trunk may be palpated
Murmur and thrill eventually disappear as flow through the defect decreases
Cyanosis and clubbing are late findings

28. VSD EKG Small defect-normal
Large defect- left atrial and ventricular enlargement
If pulmonary hypertension occurs
QRS axis shifts to the right,
right atrial and ventricular enlargement

29. VSD CXR Small defect- normal
Large defect LAE, LVE, “Shunt Vascularity”
Pulmonary hypertension:
proximal pulmonary arteries enlarged
rapid taperingof the peripheral pulmonary arteries, and oligemic lung fields “Pruning”

30. VSD CXR

31. VSD Echo Two-dimensional echocardiography
Confirm the presence and location
Color-flow mapping provides information about the magnitude and direction of shunting
Qp:Qs

32. VSD

33. VSD Management Small defects (Qp:Qs < 1.5)
No need for surgery
High Risk SBE, Prophylaxis provided
Large defects who survive to adulthood usually have left ventricular failure or pulmonary hypertension/ right ventricular failure
Surgical closure recommended
Once the ratio of pulmonary to systemic vascular resistance > 0.7 risk of surgery is prohibitive

34. PDA

35. PDA
Connects descending aorta (just distal to the left subclavian artery) to the left pulmonary artery
In the fetus, it permits pulmonary arterial blood to bypass lungs and enter the descending aorta for oxygenation in the placenta
10 percent of cases of congenital heart disease.
Perinatal hypoxemia
Maternal rubella
Infants born at high altitude or prematurely

36. PDA Exam Bounding arterial pulses with widened pulse pressure
Hyperdynamic left ventricular impulse
A continuous “machinery” murmur
Second left anterior intercostal space
Peaks immediately after the second heart sound (thereby obscuring it)
declines in intensity during diastole.
If pulmonary hypertension develops continuous murmur decreases in duration eventually disappears

37. PDA CXR Left atrial and ventricular hypertrophy
Pulmonary plethora, proximal pulmonary arterial dilatation, RVH
Prominent ascending aorta
May be visualized as an opacity at the confluence of the descending aorta and the aortic knob

38. PDA CXR

39. PDA Imaging
With two-dimensional echocardiography the ductus arteriosus can usually be visualized
Doppler studies demonstrate continuous flow in the pulmonary trunk
Quantify the magnitude of shunting

40. PDA Echo

41. PDA Management Small defects Large defects No need for surgery
High Risk SBE (0.45 % annually after age 20) Prophylaxis provided
Some recommend closure to prevent SBE
Large defects
Sx during childhood or adulthood: fatigue, dyspnea, or palpitations
The ductus arteriosus may become aneurysmal and calcified, which may lead to its rupture
Left ventricular failure from Vol overload
When pulmonary vascular resistance exceeds systemic vascular resistance, the direction of shunting reverses (Cyanosis)

42. PDA Surgery
1/3 of patients not surgically repaired die of heart failure, pulmonary hypertension, or endarteritis by age 40 2/3 die by age 60
Surgical ligation or percutaneous closure accomplished without cardiopulmonary bypass
Mortality of less than 0.5 percent
Once severe pulmonary vascular obstructive disease develops closure is contraindicated.

43. Coarctation

44. Coarctation Physiology
A diaphragm-like ridge extending into aorta just distal to the left subclavian artery at the ligamentum arteriosum
Less commonly immediately proximal to the left subclavian artery
difference in arterial pressure is noted between the arms
Collateral circulation through the internal thoracic, intercostal, subclavian, and scapular arteries develops

45. Coarctation M:F = 4-5:1 Associated abnormalities
Gonadal dysgenesis (e.g.,Turner’s syndrome)
Bicuspid aortic valve (30%)
Ventricular septal defect
Patent ductus arteriosus
Mitral stenosis or regurgitation
Aneurysms of the circle of Willis

46. Coarctation Presentation
Most adults are asymptomatic
Diagnosis is made during physical exam
Systemic arterial hypertension observed in the arms, with diminished or absent femoral pulses
If symptoms are present, they are usually those of hypertension: headache, epistaxis, dizziness, and palpitations.
Occasionally, diminished blood flow to the legs causes claudication
May present with heart failure or aortic dissection
Women with coarctation are at high risk for aortic dissection during pregnancy

47. Coarctation Physical Exam
Systolic arterial pressure higher in the arms than in the legs
The femoral arterial pulses are weak and delayed
A systolic thrill in the suprasternal notch
A systolic ejection click (due to a bicuspid aortic valve)
A harsh systolic ejection murmur along the left sternal border and in the back, particularly over the coarctation
A systolic murmur, caused by flow through collateral vessels, may be heard in the back

48. Coarctation CXR
Increased collateral flow through the intercostal arteries causes notching of the posterior third of the third through eighth ribs
Usually symmetric.
Notching is not seen in the anterior ribs
Anterior intercostal arteries are not located in costal grooves
The coarctation may be visible as an indentation of the aorta with prestenotic and poststenotic dilatation of the aorta, producing the “reversed E” or “3” sign

49. Coarctation

50. Coarctation Imaging
The coarctation may be visualized echocardiographically
Doppler examination can estimate transcoarctation pressure gradient.
Computed tomography, magnetic resonance imaging, and contrast aortography
Location and length of the coarctation
Visualization of the collateral circulation
Measurement of Gradient on Cath

51. Coarct Echo

52. Coarctation Complications
Hypertension
Left ventricular failure (2/3 of pts > 40 yo)
Aortic dissection
Premature coronary artery disease
Infective endocarditis
Cerebrovascular accidents (due to the rupture of an intracerebral aneurysm)
If uncorrected 3/4 die by the age of 50, and 90% by the age of 60

53. Coarctation Repair
Repair considered for transcoarctation pressure gradient of more than 30 mm Hg
Balloon dilatation is a therapeutic alternative
Higher incidence of subsequent aortic aneurysm and recurrent coarctation than surgical repair
Postoperative complications include residual or recurrent hypertension, recurrent coarctation, and the possible sequelae of a bicuspid aortic valve

54. Age at Time of Repair Surgery during childhood: Surgery after age 40:
90 percent are normotensive 5 years later, 50 percent are normotensive 20 years later
89 percent of patients are alive 15 years later and 83 percent are alive 25 years later
Surgery after age 40:
Half have persistent hypertension
15-year survival is only 50 percent

55. Bicuspid AoV

56. Aortic Stenosis
Supravalvular and Infravalvular Stenoses typically present in childhood
Bicuspid aortic valve 2 to 3 percent adult population.
M:F=4:1
20% have associated cardiovascular abnormality such as patent ductus arteriosus or aortic coarctation.
Not stenotic at birth, subject to abnormal hemodynamic stress, leads to thickening and calcification of the leaflets
Abnormality of the medial layer of the aorta above the Valve predisposes to dilatation of the aortic root

57. Aortic Stenosis Presentation
The classic symptoms are angina pectoris, syncope and heart failure
Adults with aortic stenosis who are asymptomatic have a normal life expectancy; they should receive antibiotic prophylaxis
Once symptoms appear, survival is limited: the median survival
five years after angina develops
three years after syncope occurs
two years after heart failure appears

58. Aortic Stenosis Physical Exam
Carotid upstroke delayed and diminished (parvus et tardus)
The aortic component of S2 diminished or inaudible
Fourth heart sound is present
A harsh systolic crescendo–decrescendo murmur is audible over the aortic area and often radiates to the neck
As the aortic stenosis worsens, the murmur peaks progressively later in systole

59. Aortic Stenosis Work Up
Left ventricular hypertrophy is usually evident on EKG
Unless the left ventricle dilates, CXR demonstrates a normal cardiac silhouette
TTE with Doppler permits assessment of the severity of the stenosis and of left ventricular systolic function.
Cardiac catheterization is performed to determine the severity of aortic stenosis and to determine concomitant coronary artery disease.

60. Aortic Stenosis Treatment
If mild, only SBE prophylaxis
If symptomatic, valve replacement necessary
Valve replacement prior to development of LV dysfxn
Nl LV fxn
LVH will regress

61. Pulmonic Stenosis
10 to 12 percent of congenital heart disease in adults.
Valvular in 90 percent of patients, remainder supravalvular or subvalvular
Supravalvular pulmonary stenosis in pulmonary trunk or branches
Often coexists with other congenital cardiac abnormalities (valvular pulmonary stenosis, ASD, VSD, PDA, tetralogy of Fallot or Williams syndrome)
Subvalvular pulmonary stenosis caused by narrowing of the right ventricular infundibulum usually occurs in ventricular septal defect.

62. Pulmonary Stenosis Physiology
Typically is an isolated abnormality, may occur with VSD
Valve leaflets usually are thin and pliant; all three valve cusps are present
Commissures are fused
Valve is dome-shaped with a small central orifice
10-15 percent have dysplastic thickened leaflets
2/3 of patients with Noonan’s syndrome have pulmonary stenosis due to valve dysplasia.

63. Pulmonic Stenosis Definition
Mild if the valve area >1.0 cm, transvalvular gradient < 50 mm Hg, or peak right ventricular systolic pressure is <75 mm Hg
Moderate if the valve area is 0.5 to 1.0 cm, the transvalvular gradient is 50 to 80 mm Hg, or the right ventricular systolic pressure is 75 to 100 mm Hg.
Severe pulmonary stenosis is characterized by a valve area of less than 0.5 cm, a transvalvular gradient of > 80 mm Hg, or a right ventricular systolic pressure of more than 100 mm Hg

64. Pulmonic Stenosis Presentation
If mild, usually Asx
When the stenosis is severe, dyspnea on exertion or fatigability may occur
Less often may have chest pain or syncope with exertion
Eventually, right ventricular failure may develop, with peripheral edema and abdominal swelling
If the foramen ovale patent, shunting of blood from the right to the left causing cyanosis and clubbing

65. Pulmonic Stenosis Physical Exam
With moderate or severe pulmonary stenosis:
A right ventricular impulse at the left sternal border
Thrill at the second left intercostal space
Harsh crescendo–decrescendo systolic murmur increases with inspiration at left sternal border
If the valve is pliable, an ejection click often precedes the murmur
As the stenosis becomes more severe, the systolic murmur peaks later in systole

66. Pumonic Stenosis CXR
Post-stenotic dilatation of the main pulmonary artery
Diminished pulmonary vascular markings
The cardiac silhouette is usually normal
An enlarged cardiac silhouette may be seen if the patient has right ventricular failure or tricuspid regurgitation.

67. Pulmonic Stenosis Echo
Right ventricular hypertrophy and paradoxical septal motion during
Site of obstruction can be visualized in most patients.
With the use of Doppler flow studies, the severity of stenosis can usually be assessed

68. Pulmonic Stenosis Echo

69. Pulmonic Stenosis, Treatment
If mild only SBE Prophylaxis
Survival 94 percent 20 years after diagnosis
Severe stenosis should be relieved
Moderate pulmonary stenosis have an excellent prognosis with either medical or interventional therapy
Interventional therapy is usually recommended, since most patients with moderate pulmonary stenosis eventually progress

70. Balloon Valvuloplasty
The procedure of choice
High success rate provided the valve is mobile and pliant
Long-term results are excellent
Secondary hypertrophic subpulmonary stenosis regresses after successful intervention
Valve replacement is required if the leaflets are dysplastic or calcified or if marked regurgitation is present

71. Tetrology of Fallot Most common cyanotic heart defect after infancy
Overiding aorta
Obstruction of RVOT
RVH
VSD
Associated with L-PA stenosis (40%), R sided aortic Arch (25%), ASD (10%), Coronary Anomalies (10%)

72. Tetralogy of Fallot

73. Tetralogy of Fallot Equal pressure in R and L ventricles
R-L shunting due to elevated RV pressures from RVOT obstruction
Changes in SV resistance affect shunting
Increased SVR decreases R-L shunting

74. Tetralogy of Fallot Presentation
Cyanotic spells beginning in first year of life
Tachypnea, cyanosis
Can progress to LOC, Seizures, CVA, Death
Adults
Dyspnea and limited exercise tolerance
Complications of chronic cyanosis- erythrocytosis, hyperviscosity, abnormalities of hemostasis, cerebral abscesses or stroke, and endocarditis.

75. Tetralogy of Fallot Physical Exam
Cyanosis and digital clubbing
Severity determined by the degree of RVOT obstruction
RV lift is palpable
A Systolic ejection murmur caused by turbulent flow across the RVOT (thrill may be may be palpable)
Intensity and duration inversely proportional to severity of obstruction- flow shunted across VSD
a soft, short murmur suggests severe obstruction
Second heart sound is single, since its pulmonary component is inaudible
An aortic ejection click (due to a dilated, overriding aorta) may be heard

76. Tetralogy of Fallot
EKG- right-axis deviation and right ventricular hypertrophy.
CXR- heart size is normal or small
lung markings are diminished.
“bootshaped,” heart
upturned right ventricular apex and concave main pulmonary arterial segment.
A right sided aortic arch may be present.

77. Tetrology of Fallot CXR

78. Tetralogy EKG

79. Tetralogy of Fallot Echo
Establishes diagnosis
Determines severity of RVOT obstruction
Flow across VSD
Cardiac Cath
Pressures, gradients, shunting, O2 sat, VSD
Origins of coronary arteries
Also seen by MRI or CTA

80. Tetralogy Echo

81. Tetralogy of Fallot
Without surgical intervention, most patients die in childhood
Survival rate- 66 percent at 1 year of age, 40 percent at 3 years, 11 percent at 20 years, 6 percent at 30 years, and 3 percent at 40 years

82. Tetralogy of Fallot Surgical correction
Relieves sx and improves survival
Waterston: a side-to-side anastomosis of the ascending aorta and the right pulmonary artery
Potts: side-to-side anastomosis of the descending aorta to the left pulmonary artery
Blalock–Taussig: end-to-side anastomosis of the subclavian artery to the pulmonary artery.
Long-term complications- pulmonary hypertension, left ventricular volume overload, and distortionof the pulmonary arterial branches.

83. Blalock-Tausig

84. Waterston

85. Tetralogy of Fallot Surgical correction
Complete surgical correction
Closure of VSD
Relief of RVOT obstruction
Mortality 3% in children, 2.5-8% in Adults
Rate of survival 32 years after surgery 86% with repair vs. 96% in age-matched controls

86. Tetralogy of Fallot Post Surgical Complications
Ventricular arrhythmias detected with Holter monitoring in 40 to 50 percent
Moderate or severe pulmonary regurgitation
Systolic and diastolic ventricular dysfunction
Atrial fibrillation or flutter are common

87. Tetralogy of Fallot Post Surgical Complications
Pulmonary regurgitation may develop as a consequence of surgical repair of the RVOT
Can result in RVE and RV dysfunction
May require repair or replacement of the pulmonary valve
RVOT aneurysm may occur at site of repair
Rupture has been reported
Recurrent obstruction of RVOT may occur
10-20% have residual VSD
CHB may occur
AI is common but usually mild

88. Ebstein’s Anomaly
Downward displacement of septal leaflet of Tricuspid valve
Sometime posterior leaflet as well
“Atrialized Ventricle”
Tricuspid regurg common
80% have ASD or PFO
Can result in R-L shunting

89. Ebstein’s Anomaly

90. Ebstein’s

91. Ebstein’s Anomaly
Severity of defect depends upon degree of valvular displacement
Presentation ranges from severe HF in neonate to incidental discovery in adults
Neonates with severe disease have cyanosis, heart failure, murmur noted in the first days of life
Worsens after the ductus arteriosus closes
Older children with Ebstein’s anomaly often come to medical attention because of an incidental murmur
Adolescents and adults present with a supraventricular arrhythmia.

92. Ebstein’s Anomaly Physical Exam
Severity of cyanosis depends on the magnitude of right-to-left shunting
Tricuspid regurgitation is usually present at the left lower sternal border.
Hepatomegaly from passive hepatic congestion due to elevated right atrial pressure may be present.

93. Ebstein’s Anomaly EKG Tall and Broad p-waves RBBB 1st degree AVB
20% have ventricular pre-excitation

94. Ebstein’s Anomaly EKG

95. Ebstein’s Anomaly CXR Normal in mild cases Cardiomegally from RAE
Pulmonary markings decreased in severe cases
Marked R-L shunting across ASD

96. Ebstein’s Anomaly Treatment
Focuses on preventing and treating complications
SBE prophylaxis
CHF
Rx of SVT
RFA for accessory pathway
Fontan procedure in severe cases

97. Fontan

98. Ebstein’s Anomaly Tricuspid Surgery Repair or replacement
Closure of ASD/PFO
Patient with severe sx despite medical Rx
Cardiac enlargement

100. Transposition of the Great Vessels
Aorta from RV, PA from LV
Complete separation of pulmonic and arterial saturation
Requires communication between the circuits for survivial
PDA, VSD, ASD or PFO

101. D-Transposition of the Great Vessels

102. Transposition Echo

103. Transposition of the Great Vessels Physical Exam
Findings are nonspecific.
Infants have cyanosis and tachypnea.
The second heart sound is single and loud (due to the anterior position of the aorta).
In patients with mild cyanosis, a holosystolic murmur caused by a ventricular septal defect may be heard.
A soft systolic ejection murmur (due to pulmonary stenosis, ejection into the anteriorly located aorta, or both) may be audible.

104. Transposition of the Great Vessels EKG
RAD
RVH- RV is systemic ventricle
LVH- if VSD, PDA, Pulmonic Stenosis present

105. Transposition of the Great Vessels CXR
Increased pulmonary vascularity
Egg Shaped with a narrow stalk

106. Transposition CXR

107. Transposition of the Great Vessels
Mortality 90% by 6 months if uncorrected
Infusion of prostaglandin E (to maintain or restore patency of the ductus arteriosus),
Creation of an atrial septal defect by means of balloon atrial septostomy (the Rashkind procedure).
Oxygen- to decrease PVR, increase pulmonary blood flow

108. Transposition of the Great Vessels-Surgery
Atrial Switch- (Mustard)
Atrial septum excised and baffle created
Shunts blood to LV
RV continues to function as systemic ventricle
RV failure, SCD
Leakage of the atrial baffle (often clinically inconsequential)
Obstruction of the baffle (often insidious and frequently asymptomatic)
Sinus-node dysfunction
Atrial arrhythmias, particularly atrial flutter

109. Atrial Switch

110. Arterial Switch

111. Transposition of the Great Vessels-Surgery
The atrial-switch operation has been replaced by the arterial-switch operation
Pulmonary artery and ascending aorta are transected above the semilunar valves
Coronary arteries switched, so that the aorta is connected to the neoaortic valve (formerly the pulmonary valve) arising from the left ventricle, and the pulmonary artery is connected.
This operation can be performed in neonates and is associated with a low operative mortality and an excellent long-term outcome.

120. Physiologic Repair Tetralogy of Fallot (TOF)
Senning's or Mustard's operation for transposition of the great arteries
Fontan operation for the single ventricle.

121. Approach to Management
                                                                                                                                                                     

122. Timetable of Congential Heart Surgery
                                                            

123. Congenital Heart Disease in Adults Part II Cyanotic Heart Disease
M.Ferguson CAPT, USN
NNMC

124. Palliative interventions increase or decrease pulmonary blood flow while allowing a mixed circulation and cyanosis to persist
Physiologic repair total or near total anatomic, physiologic, or both anatomic and physiologic separation of the pulmonary and systemic circulations.

125. Palliative Operations
                                                            

126. Palliative Operations
Systemic arterial-to-pulmonary artery shunts
improvement in saturation levels
high levels of pulmonary blood flow
direct exposure of the pulmonary vascular bed to the high pressures of the systemic circulation
long-term complications include pulmonary hypertension, pulmonary artery stenosis, and volume overload of the ventricle receiving pulmonary venous return.

127. Cyanotic Conditions
Arterial O2 desaturation due to shutning of venous blood into arterial circulation (R-L)
Magnitude of shunting determines severity of desaturation