INTRODUCTION:

Abnormality in cardiocirculatory structure

or function that is present at birth ,even if
it is discovered much later
Incidence: 0.8% live births
CHD is not simply a continuation of
childhood experience.
Pattern of many lesions change in adults
life
Arrhythmias are more frequent & of a
different character.
cont…
Common in females : ASD, PDA ,Ebstein
anomaly

Common in males :AS, corctation of aorta,

hypoplastic left heart
chamber ,PS , TGA.

Complications :Arrhythmias , cardiac

chamber enlargement ,systolic function
deterioration.
Classification of congenital heart
diseases in adults
 1.Simple CHD

 2.Moderate CHD

 3.Great complexity CHD

SIMPLE CHD
NATIVE DISEASES

1.Isolated congenital aortic valve disease

2.Isolated patent foramen ovale or small
ASD
3.Isolated small VSD
4.Mild pulmonic stenosis
SIMPLE CHD
 REPAIRED CONDITIONS

1. Previously ligated or occluded ductus

arteriosus
2. Repaired secundum or sinus venosus
ASD without residua
3. Repaired VSD without residua
Moderate severity
1. Aorto-left ventricular fistulas
2. APVR –total or partial
3. Atrioventricular septal defects( total or complete)
4. Coarctation of aorta
5. Ebstein anomaly
6. Infundibular Rt. ventri,. outflow obstruction
7. Ostium primum ASD

ct…..
Moderate severity
8. Patent ductus arteriosus
9. Pulmonary valve regurgitation
10. Pulmonic valve stenosis
11. Sinus of valsalva fistula / aneurysm
12. Aortic stenosis _sub or supravalvular
(except HOCM )
13. TOF

Ct….
Cont…
14 .Ventricular septal defects with following :
Absent valves
AR
Corctation of aota
Mitral disease
RVOT
Straddling tricuspid valve / mitral valve
subortic stenosis
 Great complexity
1. Conduit , valved or nor valved
2. Cyanotic congenital heart (all forms )
3. Double outlet ventricle
4. Eisenmenger syndrome
5. Fontan procedure
6. Mitral atresia
7. Single ventricle (called double inlet or
outlet )

Ct…..
Great complexity
8. Pulmonary atresia
9. Pulmonary vascular obstructive disease
10. TGA
12. Tricuspid atresia
13. Truncus ateriosus
Pathological consequences
1. Heart failure
2. Cyanosis : Central cyanosis
Erythrocytosis
Hyperviscosity
Brain abscess

3. Pulm . HTN
4. Eisenmenger syndrome
5. Cardiac arrthymia
6. Infective endocarditis
7. Hyperuricemia and gouty arthritis
13
 Etiology :
Genetic :
VSD,ASD, cong.heart block, situs
invertus,pulmonary hypertension,Truncus arteriosus,
.
etc.
 Environmental :
Maternal Rubella (PDA, ASD)
Thalidomide ,isotretinoin
Chronic maternal alcohol abuse( VSD)
Lithium _tricuspid valve anomaly
Circulation


15
 Common Congenital Heart
Disease In Adults
Atrial Septal Defect
VSD
Coarctation of Aorta
PDA
Tetralogy of Fallot
Transposition of Great Arteries
Ebsteins Anomaly
Eisenmenger Syndrome
Atrial Septal Defect
1/1500 live births
Secundum- 75%
 most common adult CHD (6-10%)
 RAD
Primum -15%
 associated with other endocardial cushion
defects (cleft AV valves, inlet type VSD)
 LAD
Sinus Venosus -10%
 large, associated with anomalous pulmonary
venous drainage
Coronary sinus (rare)
 associated with unroofed coronary sinus
ASD- Anatomy/Prevalence
• Secundum 75%
• Primum 15%
• Sinus Venosus
10%
• Cor Sinus (rare)
 ASD - Clinical
Majority repaired in childhood, but may present in
adolescence/adulthood
Asymptomatic
Systolic murmur, diastolic murmur at large
shunts .
Symptomatic
recurrent respiratory tract infections
 dyspnea/CHF
 CVA
 Atrial Fibrillation
 Auscultation in ASD
-Systolic ejection murmur

-Fixed splitting of second heart

sound

Diastolic rumble at mid to lower

rt.
sternal border.
COMPLICATIONS

1 .Right ventricular dysfunction

2.Pulmonary Hypertension and

Eisenmengerisation

3.Atrial flutter or fibrillation

4.Paradoxical embolism

5. Heart failure
Diagnosis:
 ECG:
 Secondum ASD – RAD with rSr` in Rt precordial leads.
 Sinus venous type ASD ->pri. Heart block or ectopic atrial
pacemaker
 Primum ASD -> LAD with RV conduction defect
 RV & RA hypertrophy

CXR:
• Enlargement of RA, RV , Dilation of pul artery & its branches
, pul plethora

ECHO:
 pul arterial & RV dilation
 systolic anterior( paradoxical) or
flat IVS motion if RV overload is significant.
 Transthoracic echo sufficient
for sinus venous defect – TEE indicated
 CHEST X RAY
ASD
ASD ostium secundum ostium
primum
ASD: Treatment
 Medical – T/t of chest infections
- Antiarrhythmics for AF/ SVT
- T/Tof CCF
 Operative – Percutaneous Closure:
 only for secundum (contraindication in others)
 adequate superior/inferior rim around ASD
 no R-L shunting
 Surgical Closure:
 Good prognosis:
 closure age < 25, PA pressure <40
 If >25 or PA>40, decreased survival due to CHF,

stroke, and afib

 VSD
Types of VSD:
 Perimembranous: 70%

 Muscular: 20%

 Supracristal 10%
Natural History Of VSD
 25-40% of VSD close by age 2
 90% of VSD close by age 10
 Small defects remain asymptomatic
 Large defects often develop
• LV failure,
• Pul. Hypertension
(Eisenmenger syndrome) ,
• RV failure ,
• Aortic Regurgitation
•Membranous (= perimembranous, conoventricular)
VSD

• Most common CHD (males>females)

• Endocardial cushions & bulbar
ridges fail to fuse with muscular septum
•
• Muscular VSD

• “Swiss cheese” VSD

• Supracristal VSD- Least common

Signs&Symp :
• Eisenmenger’s syn – exertional dyspnea, chest
pain, syncope,hemoptysis.

•Cyanosis

•clubbing

•erythrocytosis

•Wide Pulse pressure

•Precordium hyperkinetic
• Systolic thrill at Lt sternal border in 3rd & 4th ICS

• Moderately enlarged heart with LV type of apex.

• S1 and S2 masked by PSM at Lt sternal border

• S2 widely split & variable ; P2 accentuated

• PSM – at Lt sternal border in 3rd ,4th or 5th Lt ICS ,

well heard at II Lt intercostal space but not
conducted beyond Apex

•S3 at apex.

•Flow murmurs- ESM at pulmonary area

•Small VSD- normal ECG

•Mod VSD-
- Broad, notched P wave-
chara. of LAE
-LV volume overload-deep Q,
tall R,tall T in Lt sided
leads
-AF
•With repair -normal ECG with
RBBB

•Large VSD without PHT-LVH

•VSD with PS/PHT-RVH or Bi

CXR:

- cardiomegaly
-LAE-
-Plethoric lung fields

ECHO:

Detect no. & locations of

defects in V. septum &
detect a/c anomalies
Membranous VSD Muscular VSD
MEDICAL- t/t of CCF,IE

SURGICAL`:
Surgery not indicated with
1. Normal pul art pressure with small shunts
(pul. to syst. flow <1.5-2:1)
2.if shunt is reversed

surgery indicated in :
1. mod. to large Lt to Rt shunt with pulmonary to
systemic flow ratio >1.5-2:1
2. CCF not responding to medical Tt
3. If asso. With PS, PAH , AR present
4. PAP (systolic)> 50 mm Hg
5. Perimemb or outlet VSD with > than mild AR & h/o
recurrent infective endocardis
Surgical:

1. Closure of VSD with use of a dacron patch or by

direct suture
Surgery performed by RA or Rt ventriculostomy
approach

2.Trancatheter device closure of trabecular &

perimemb VSD

Age-<1yr if refractory CCF

-2yrs if PHT
<2 yr- Ideal age

COMPLI. OF VSD SURGERY:

1.CHB
2Bifascicular block
3.Reopened/Residual VSD
Pulmonary Plethora:

Pulmonary plethora always results from shunt of blood

from arterial to the venous side of circulation as
in cases of

 Atrial septal defect

 Ventricular septal defect

 Patent ductus arteriosus

3 degrees of severity of pulmonary

plethora: mild (a), moderate (b) and severe
(c).
Coarctation of Aorta
Narrowing in proximal descending aorta

May be long/tubular most commonly discrete

ridge

 poor prognosis if unrepaired

Aortic Aneurysm/dissection
 CHF
C/F-
 Headache,epistaxis,cold extrimities,claudication
with exersice.
 Pain and weakness of legs
 Shoulder pain
Signs-
 Upper limbs and thorax ,more developed than LL.
 Radiofemoral delay (femorals delayed)
 PDA with COA- good femoral pulsations +, inspite of
COA which would be preductal in locations.
 Suprasternal pulsations.
 Suzzman’s sign
Cont..
Systolic thrill- suprasternal notch
 S1- accentuated
S2 – Split with loud A2
 Late ESM heard best over back
Murmur- initially midsystolic but become
continuous if lumen narrowed
 S3 Occur with LVF and S4 with severe HT
ECG- :
Adults LVH,LAE
RVH – a/c VSD
STT changes < 15 yrs – a/c AS or
endofibroelastosis
CXR-
 prominent ascending aorta and aortic knuckle.
dilated Lt subclavian artery on Lt mediastinal
border.
 Dock`s sign- rib notching at there lower borders
d/t erosion by dilated collaterals.
-appear beyond 10 yrs of age
Indentation of aorta ( 3 sign)
Barium swallow-E sign
Rib notching
Echo-
-detect site & length of COA.
-TEE,MRI, CT visualise length & severity of obstruction
& collaterals
Cardiac catheterisation- to evaluate coronaries.
PREDUCTAL COA-Lt UL underdeveloped
Lt radial weak
Rib notching-Rt side
COARCTATION
Echo-
-detect site & length of COA.
-TEE,MRI, CT visualise length & severity of obstruction
& collaterals
Cardiac catheterisation- to evaluate coronaries.
PREDUCTAL COA-Lt UL underdeveloped
Lt radial weak
Rib notching-Rt side
Echo-
-detect site & length of COA.
-TEE,MRI, CT visualise length & severity of obstruction
& collaterals
Cardiac catheterisation- to evaluate coronaries.
PREDUCTAL COA-Lt UL underdeveloped
Lt radial weak
Rib notching-Rt side
Dignosis:
Complications:
-cerebral aneurysm
-aortic dissection
-intercostal aneurysm rupture
-infective endocarditis

Treatment:

Medical –t/t of CCF ,AntiHT, IE prophylaxis

Surgical-any age but lowest risk-between 1-10 yrs.

Beyond 15 yrs-higher risk as tissues become
friable.
IDEAL AGE FOR Surgery- As soon as possible
after age of 1 year.
• Coarctation Repair
Patch aortoplasty with removal

• Round segment end

anstomosis
• Surgical grafting
correction of segment
and end to end anastomosis
or
subclavian flap repair
Coarctation:
Followup
Every 1-2 years

 Document arm/leg BP

 Screen/treat CAD risk factors

 HTN: rest, provoked by exercise or

seen on ambulatory monitoring

 ECHO/doppler to evaluate recurrence

 MRI for aneurysm

Tetralogy of Fallot
4 features
 VSD
Overriding Aorta
Pulmonic Stenosis
RVH
Variability correlates with
-degree of RVOT
obstruction -
size/anatomy of PA
Pathophysiology-

 PS – Concentric RVH – decrease RV

pressure to aortic pressure – R to L
shunt (silent – no murmur- gradients
low)

 Flow from RV into PA across PS –

ESM
 Assessment of Findings
with Tetralogy of Fallot
 Symptoms are variable depending of degree of obstruction
 Sgns & Symptoms include:
Cyanosis
Tachycardia
Systolic murmur at left sternal border
Retarded growth and development
Severe dyspnea on exertion
Paroxymal dyspnea
Blue spells
Squatting
Clubbing
Mental retardation

56
57
ECG-
 Rt.axis deviation,RVH,RAE,P-pulmonale,T inversion in
right precordial leads.
CXR-
 Normal sized boot shaped heart (Coeur en Sabot) with
prominent of RV and concavity in region of pul.conus
 Pul. Vascular markings decreased
 pul. oligemia

2D Echo-
 Detect VSD, PS, overriding of aorta, RVH
Treatment:

• Anoxic Spells-
Prevention
- kneechest position
-Humidified O2
-Morphine 0.1 -0.2 mg/kg SC
- Acidosis correction - IV NaHCO3
-Propranalol – 0.1 mg/kg IV during spell &
then - 1 mg/Kg, 4-6 hourly orally
-Correction of anemia
• Vasopressor
TOF: Surgical Treatment
Systemic – Pulmonary Shunt
 Blalock-Taussig
 Waterston (RPA)
 Potts (LPA)
Complete Repair
 take down of prior shunt
 patch VSD
 resection of subpulmonic obstruction
 transannular patch around pulm. valve
annulus
Patent Ductus Arteriosus
(PDA)
Communication between bifurcation of pul.
Artery to aorta just distal to Lt subclavian artery
known as ductus arteriosus.

• It closes functionally (vasoconstriction)

immediately after birth
• anatomically(intimal proliferation and fibrosis)
by several weeks
PDA
Silent – Tiny PDA

 Small PDA – continuous murmur

-pul. to syst.blood flow<1.5:1

 Moderate PDA- continuous murmur

-pul. to syst.bld flow 1.5-2:1

 Large PDA -pul. to syst.bld flow >2.2:1

Eisenmengerization- continuous murmur absent-

PH , differntial cyanosis, clubbing, ESM
Natural History-
- Small PDA- small shunt – no signi. haemodynamic
derangement.

- Moderate PDA and shunt- LA and LV volume

overload with dilatation and dysfunction

-Large PDA- LV volume overload initially,

later develop progressive rise in PAP and
irreversible pul.vascular changes by 2 yrs of age
Clinical Feature:
continuous “machinary” murmur .

 Peak at S2 is characteristic

 No mitral diastolic murmur

 S1 Normal.
Large PDA :
-Symptomatic in early life (6-10 wks)
-Large L to R shunt – pul. HTN d/t pul.vascular
obstruction-
-Short ESM
-Dyspnoea , palpitation
-Systolic thrill at pul.area
-S3 at apex.
-Mitral delayed diastolic murmur,
-S1 loud hyperkinetic cardiac impulse,LV apex
-Wide PP and signs of wide PP
- Prominent carotid pulsation in L to R shunt
CXR

 LV cardiomegaly
 Incr. Shunt size- incr heart size
 LAE
 Promi. Ascending aorta and knuckle
 Pul vasculature plethoric

ECG :
Normal axis
LVH
Deep Q with tall T in V5,V6- volume overloading of
LV
PDA
Severity:

1. Large L to R shunt –Large heart size

2. Absence of S3 and delayed diastolic murmur –

small shunt
S3 – moderate shunt
delayed distolic murmur – large shunt

3. Shunt size varies directly with wide PP

Complications- CCF, IE
D/d :
1. VSD with AR –PSM with EDM
CCF resistant
PDA-CCF easily controlled with T/t
-develop PAH earlier than VSD.
2.Coronary AV fistula

3. Ruptured sinus of valsalva fistula into R

side

4. Aortico pul. Septal defect.

5. Syst. AV fistula over chest.

cont…
6. Pul. AV fistula

7. Venous hum- TAPVC

8.Small ASD with MS

9. MR with AR
AS with AR- gap between 2 murmur
Treatment:
Catheter-Based Procedures:
-Catheters are thin, flexible tubes used in a
procedure called cardiac catheterisation
(KATH-e-ter-i-ZA-shun)
Surgery:
Surgery for PDA done if:
- PDA isn't successfully closed by a catheter-
based procedure
-Surgery is planned for treatment of related
CHD
Transposition Great Arteries
• PA arises from LV, Aorta from RV and anterior/right of
PA
L-type Transposition
Atrial-ventricular &
ventriculo-arterial
discordance
Physiologically correct,
anatomically incorrect
“congenitally corrected”
transposition
RV is systemic ventricle,
TV is systemic AV valve
Asymptomatic for many
years, often into
adulthood
L-type transposition: complications
 survival is reduced with one study showing 25%
of patients died by mean age 38

progressive heart failure

Arrhythmias
AV block
Atrial arrhythmias

Severe AV -tricuspid regurgitation

 difficult to diagnose using conventional ECHO
 MRI investigation of choice for RV function
 TGA complications
Complications :
 arrhythmias

 tricuspid valve regurgitation

 systemic (RV) ventricular failure

 15% have CHF by 2nd-3rd decade

 baffle obstruction
 Rare (5%) but serious complication; venous
more common
 Suspect if new upper extremity edema
(venous) or new CHF (pulm venous)
 ECHO or Cath. to evaluate, pulm venous
obstruction Rx with surgery, systemic venous
with angioplasty/stents
Treatment:
• repair via “atrial switch” Mustard procedure

• repair via arterial switch

Ebsteins Anomaly
Atrialization of RV, sail-like
TV,
50% ASD
50% ECG evidence of WPW
syndrome
Age at presentation varies
from childhoodadulthood
and depends on factors such
as severity of TR, Pulm
Vascular resistance in
newborn
-associated abnormalities as
ASD
Ebsteins anomaly:
Clinical Presentation
Adult (unrepaired with ASD)
 atrial arrhythmias
 murmur
 cyanosis
 RL shunt NOT due to PulmHTN but TR jet directed
across ASD
 exercise intolerance
Diagnosis:
Diagnosis by echocardiogram.
ECG:
atrial enlargement
right bundle branch block
X-ray ofchest
Cardiac catheterization

Massive cardiomegaly,
mainly due to RAE
Treatment:
Medications:
-antiarrhythmic
-diurectics
-Endocarditis prevention
Surgery:
-Surgery may be for repair or replacement of
tricuspid valve
Eisenmenger’s Syndrome:
Final common pathway for all significant
- LR shunting in which unrestricted pulmonary
blood flow
- leads to pulmonary vaso-occlusive disease
(PVOD);
RL shunting/cyanosis devleops

Generally need Qp:Qs >2:1

Complications:
Coagulopathy/platelet consumption
Brain abcesses
Cerebral microemboli
Airway hemorrhage
 especially moving from lowerhigher
altitudes (air travel, mountains)
Eisenmenger: Treatment
polycythemia  phlebotomy
careful if microcytosis, strongest predictor of
cerebrovascular accidents

Once diagnosis established,

- avoid aggressive testing as many patients die
during cardiovascular procedures
Diuretics , oxygen ,prostacyclin therapy may
delay, expensive
Definitive: Heart Lung transplant
TAPVC:
• Total anomalous pul.venous connection

 Uncommon cyanotic CHD

c/f:
Cyanosis,
CCF
Diagnosis:
CXR –”Snowman” or figure of 8 configuration in
supracardiac variety
Obsrtuctive TAPVC- N sized heart with severe
pul.venous HT resulting in groundglass
appearance

ECG- RAD with RVH

- p-pulmonale with obstructive variety

Echo- RVH and paradoxical motion of IVS

T/t –
-CCF control
-t/t pul.infections
-surgery indicated as soon as possible
- since 80 % are lost within first 3 months of
life without surgery
HOCM
LVH typically of nondilated chamber without cause

-Diastolic dysfunction chara.by stiffness of

hypertrophied muscle

-Genetic consideration :
- autosomal dominant transmision
-mutation chromosome 14
C/F :
-Sudden death
-Dyspnoea
-Angina pectoris,fatigue,syncope
-Double/triple apical precordial impulse
-Rapidly rising carotid pulse,S4+
-Systolic murmur – harsh,diamond shaped
(ESM)
ECG-
- LVH
- Widespread deep,broad Q
-Arrthymias- atrial- SVT/AF
- Ventricular tachycardia
CXR-
-N or mild cardiomegaly
Echo-
- LVH-
-posterior LV free wall
-Ground glass appearance by septum
-Rare type of HCM chara.by apical
hypertrophy is a/c with giant negative T wave on
ECG and “spade shaped“ LV cavity on
angiography
TREATMENT:
beta blocker- for angina,syncope
 Amiodarone- for SVT, VT
 Verapamil,Diltiazam- Decrease stiffness of
ventricle, decrease diastolic pressure.
 Avoid – digitalis,diuretics,
vasodilators,beta agonist, NTG
Other congenital cardiac lesions
Valvular- Bicuspid, Unicuspid, Quadrucuspid
aortic valve with AS/AR, Lutembacher
syndrome
Williams syndrome- supravalvular AS
Mitral valve prolapse with MR
Congenital Heart block- mostly in neonatal
lupus, genetic predisposition, myocarditis
Normally ventricular rate is 40-50/min
There is some chronotropic response to atropine
or exercise.
Permanent pacing required.
Approach towards CHD
Physical examination
Built and musculoskeletal abnormalities
Pulse character and radiofemoral delay
Cyanosis and clubbing
s/o heart failure
s/o infective endocarditis
Apex- site, character Parasternal Heave, Thrill, Palp P2
Character of S1, S2, S2 split,
Shunt and flow murumurs
Questions to be answered to your self
Cyanotic or acyanotic heart disease?
Shunts at various levels and associated
valvular lesions?
Pulmonary flow- increased or decreased?
Dominant ventricle- LV or RV?
Heart failure – Yes or No?
ECG
Chest Radiograph
CVS MRI
 Echocardiography :
- transesophagial echo.
- thoracic echo.
- intracardiac echo.
- three dimensional echo .
- intracardiac echo.
- cardiac catheteriation
Steps to follow in 2D echocardiography
Visceral solitus
Atrial Solitus
Atrioventricular concordance
Ventricular arterial concordance
Relationship of great vessels
Presence of shunts and flow direction, Qp/Qs
Evidence of pulmonary artery hypertension
Presence of associated valvular lesions
LV and RV systolic function
THAN
K
YOU
Surgical Terminology in Adult Congenital Heart Disease
20): Valvular pulmonary stenosis showing
pulmonary oligemia and poststenotic
dilatation of the pulmonary artery
 Pregnancy
Shunts
 generally handled pretty well unless Pulm
vascular obstructive dz;
use same standards to decide if closure
warranted as in non-preg
L sided obstructive lesions
AS, MS, Coarctation carry significant risk
AS: can tolerate peak grad<50
 Coarc: repaired needs MRI to eval
anastomosis sites before pregnant, if aneurysm
need repair before pregnant
Physiology more impt than type of lesion
 balloon valvuloplasty if necessary (best to
dx/fix before pregnancy)
Question 1
 A 24-year-old Indian man is seen after a syncopal episode that occurred while he was watching a
football game on TV. His wife noticed that after a particularly exciting play, the patient suddenly
slumped over. She shook him hard, and, after about 30 seconds, he woke up and said that he
remembered nothing of the incident. This has never happened before. Up until this time, he has had
no limitation of physical activity. His past medical history is significant in that he had repair of
tetralogy of Fallot at age 4, at which time a VSD was patched and a right ventricular
infundibulectomy was done.
Physical examination finds no cyanosis. Blood pressure is 100/70 mmHg, and pulse is 65 per minute
with an occasional premature contraction. The lungs are clear to auscultation and percussion. Neck
veins are 4cm. There is a mid sternal incision that is well healed. There is a slight precordial
systolic lift. S2 is single. There is a Grade II/VI systolic ejection murmur with a short Grade II/VI
diastolic low-pitched murmur along the left sternal border. There is no S3 or S4.
The ECG shows right bundle branch block with left anterior hemiblock. The PR interval is 0.12
seconds. The echocardiogram reveals a slightly dilated right ventricle and paradoxical motion of the
interventricular septum. Doppler gradient across the right ventricular outflow tract is 35 mmHg.
There is evidence of moderately severe pulmonic regurgitation, and there are no left-to-right or
right-to-left shunts.
What is the most important diagnostic test needed for this patient?
 A. TEE.

B. Electrophysiology study.
C. Cardiac catheterization and angiography.
D. Tilt table test.
E. 24-hour ambulatory ECG.
Question 1 Answer
Comment
The correct answer is B.

This young man had a sudden, apparently

unprovoked, syncopal episode. His childhood
repair of a tetralogy of Fallot resulted in a right
ventricular scar. He has the usual postoperative
physical findings of a repaired tetralogy, with
residual right ventricular obstruction and pulmonic
valve insufficiency. Sudden death due to
ventricular tachycardia-fibrillation is a danger to
these patients. They deserve an electrophysiologic
study since, in this case, syncope is equivalent to
aborted sudden death.
2
Catheter-delivered balloon expansion techniques
are now the treatment of choice for which one of
the following lesions in adults?
A. Valvular pulmonic stenosis.
B. Valvular aortic stenosis.
C. Coarctation of the aorta.
D. Ebstein's anomaly of the tricuspid valve.
E. Severe mitral stenosis/regurgitation.
2
 Comment
The correct answer is A.

 Although catheter balloon valvuloplasty and aortoplasty have

been attempted in all these conditions, only pulmonary
valvotomy has achieved a success level consistent with being
the treatment of choice in adults. Aortic stenosis responds
initially to balloon expansion and may serve as a bridge to
valve replacement surgery, but is associated with rapid
restenosis. Success rates with coarctation and Ebstein's
anomaly are not uniform enough to displace surgery except
in selected patients.
Mitral stenosis in the absence of severe subvalvular disease
can be successfully treated by balloon valvuloplasty, but the
presence of moderate to severe regurgitation is an indication
for surgery.
3

An important predisposing cause for late atrial
fibrillation following closing of an atrial septal
defect is:

A. Patch versus suture closure of the defect.

B. The age of the patient at the time of surgery.

C. Right ventricular dysfunction.

D. Sinus venosus defect.

E. Concomitant mitral regurgitation.

3
 Comment
The correct answer is B.
Late atrial fibrillation may occur in as many
as 25% of patients with atrial septal defect
and is directly related to the age of the
patient at time of surgery as well as the age
of the patient at late follow-up. It is also
influenced by whether the patient had atrial
fibrillation early in the preoperative period
and may represent interruption of
interatrial pathways.
4
 What determines the physiology in tetralogy
of Fallot?
A. The size of the ventricular septal defect.
B. The position of the ventricular septal
defect.
C. The presence of an atrial septal defect.
D. The degree of RV outflow tract
obstruction.
E. The presence of a left superior vena cava.
4
Comment
The correct answer is D.

The size of the ventricular septal defect in

tetralogy of Fallot is quite uniform. The
presentation of the patient as to whether he
or she is acyanotic or cyanotic is determined
by the degree of the right ventricular outflow
tract obstruction (RVOT). RVOT obstruction
determines the amount of right-to-left
shunting.
5
 A 36-year-old man is referred for suspected ASD. He is employed,
active, and asymptomatic. ECG shows a normal axis and
incomplete right bundle branch block. Chest x-ray shows an
enlarged right heart silhouette and increased pulmonary vessels
throughout the lungs. Echocardiography confirms a 3cm diameter
secundum ASD with a large shunt. There is a mild tricuspid
regurgitation jet of 2 m/sec.
Your recommendation is which one of the following?
A. Yearly follow-up.
B. Digoxin.
C. Warfarin.
D. Angiotensin converting enzyme inhibitor.
E. Cardiac surgical repair.
5
 Comment
The correct answer is E.

 Patients with large ASDs should have them closed because

the natural history of ASD is a shortened life span due to
eventual right heart failure from the volume overload.
Paradoxical embolism and pulmonary hypertension are
additional concerns as are atrial fibrillation and its
sequelae. The recommended closure technique today is
surgical. Catheter-delivered devices are promising but have
not been perfected. Digoxin and ACE inhibitors are of no
known value. Anticoagulation is not indicated unless atrial
fibrillation or other indications for it are present.
6 The best approach for the adult patient with a calcified

ductus is:
A. Medical management.
B. Closure of the defect at cardiac catheterization.
C. Surgical closure of the defect utilizing
cardiopulmonary bypass.
D. Left thoracotomy and surgical closure.
Comment
The correct answer is B.

The calcified ductus in the adult must be handled very carefully. In the past,
the treatment of choice was surgical closure, and, because of the pliability of
the ductus, to have it done on cardiopulmonary bypass. Now, however, the
capability of closing the ductus in the cath lab negates the need for surgery.
7
 A 50-year-old Asian woman is seen because of the onset of palpitations for the past
24 hours. She had finished a 2-day bus ride just prior to the onset of the symptoms.
She reports that for the past year, she has had to stop after one flight of stairs
because of fatigue and shortness of breath. She denies chest discomfort. On
questioning, she admits heavy alcohol intake.
Physical examination reveals a healthy appearing woman with blood pressure 150/70
mmHg and pulse irregularly irregular at 140 per minute at the apex. The lungs are
clear to auscultation and percussion. The neck veins are 8cm with a predominant V
wave. S2 is widely split with little respiratory variation. There is no S3 or S4. There is
a Grade III/VI systolic ejection murmur at the second interspace at the left sternal
border. There is no peripheral edema.
The chest x-ray is shown ( Figure 1). The ECG shows atrial fibrillation with left axis
deviation and right bundle branch block.
The most probable diagnosis is:
A. Pulmonary emboli.
B. Alcoholic cardiomyopathy.
C. Ostium secundum atrial septal defect.
D. Primary pulmonary hypertension.
E. Ostium primum atrial septal defect.
7

Comment
The correct answer is E.

Patients with significant atrial septal defects often

develop atrial fibrillation when they get older. The
clue to the atrial septal defect on exam is the systolic
ejection murmur at the base, accompanied by a
widely split second heart sound. The chest x-ray, with
increased pulmonary vascular markings, is typical.
The ECG with left axis deviation is characteristic of
ASD of the ostium primum type. The more common
secundum ASD would be expected to be associated
with right axis deviation.
8
 A 48-year-old man with known Eisenmenger’s syndrome (ventricular septal defect with
high pulmonary vascular resistance) is seen for his annual visit. He continues to work
full-time as a computer operator. During the past year he has had chest discomfort "a
few times." It’s vague, visceral in character, and substernal in location. It may be at rest
or with activity, and never lasts more than a few minutes. He has no gastrointestinal
complaints and doesn’t think this is related to eating. He has also had minimal
hemoptysis with severe coughing paroxysms--"maybe when I had a little cold." He has
also had vague ankle and toe aching periodically--"maybe I need a new style of shoe!"
His examination is not changed from previous years. He is well nourished and well
muscled. He has mild clubbing, and minimally evident jugular veins with an A wave
made more prominent by abdominal compression. He has a striking left peristernal lift.
On auscultation, S2 is split, P2 is strikingly increased, and there is a Grade II
decrescendo diastolic murmur along the left sternal border. There are several ejection
clicks but no systolic murmur.
The electrocardiogram shows striking RVH with STT abnormalities (no change) and his
hematocrit is 65 (has varied from 63 to 67 during the past few years).
Which of the following do you believe should be done in this patient?
A. Perform several careful phlebotomies in the next few weeks to reduce his hematocrit
to less than 60.
B. Administer intravenous prostacyclin.
C. Refer to specialized center for work-up and consideration for future heart/lung
transplant.
D. Begin home O2.
E. Commence anticoagulation with warfarin.
8
 Comment
The correct answer is C.

 Patients with adult congenital heart disease now constitute a sizable population (many
have had operative procedures) and are approaching a million patients in the United
States. In this patient, and in all patients with complex congenital heart disease, serious
consideration should be given to referring him to a specialized center where a broad
comprehensive approach to these patients is available.
The patient should not be given phlebotomies. (A) Unless patients are clearly suffering
from hyperviscosity syndrome (e.g., transient visual disturbances, headaches,
paraesthesia, fatigue), phlebotomy should not be considered--certainly not with a
hematocrit under 70%. Because the effects of phlebotomy are only transient and iron
deficiency will result, an increased incidence of stroke occurs related to alter RBC shape
with Fe deficiency. All patients with polycythemia should be reminded that they must
avoid dehydration.
Options B and D are not appropriate for this patient since he is quite stable and the
natural history of the Eisenmenger syndrome is extremely variable. Patients may remain
stable for many years and survival into the late 50s and beyond is not rare in patients
such as the one described here. Prostacyclin (B) has been used with some enthusiasm in
patients with primary pulmonary hypertension but there are a variety of problems and
complications associated with this treatment. In addition, data including patients with
Eisenmenger syndrome are extremely limited and responses have been varied.
His symptoms are almost certainly "right ventricular angina," and it is possible that he
does have small hemoptyses related to his pulmonary hypertension. These symptoms
alone, in the absence of the development of right-sided failure, do not constitute strong
evidence of significant progression of his pulmonary vascular disease.
His uric acid should be measured since he will have hyperuricemia due to his
polycythemia, and gout occurs in cyanotic patients, particularly as they age. The use of
warfarin (E) is controversial and ordinarily would not be given.
 Which one of the following is most consistent with the
9 findings in the figure?
A. Congenital pulmonic stenosis.

B. Primary pulmonary hypertension.

C. Massive "saddle" pulmonary embolus.

D. Tetralogy of Fallot.

E. Patent ductus arteriosus.

9

Comment
The correct answer is A.
Dilatation of the main pulmonary artery on chest x-ray without
evidence of generalized pulmonary artery dilation is
characteristically observed in congenital pulmonic stenosis and is
believed to represent the phenomena of poststenotic dilatation. It
can also be seen in idiopathic dilatation of the main pulmonary
artery, in which an ejection sound and pulmonic flow murmur can
also occur, making clinical differentiation from pulmonic stenosis
difficult.
Primary pulmonary hypertension results in dilation of all proximal
pulmonary artery branches with distal caliber reduction (pruned
tree appearance). Patent ductus arteriosus would appear similar
to primary pulmonary hypertension depending on the level of
hypertension. Tetralogy of Fallot and saddle pulmonary embolus
do not significantly change main pulmonary artery caliber.
10

Which of the following conditions are amenable to repair by the
Fontan operation?
A. Ostium primum defect.
B. Tetralogy of Fallot.
C. Tricuspid atresia.
D. Corrected transposition of the great vessels.

Comment
The correct answer is C.

The ability to connect the right atrium directly to the pulmonary artery
and utilize a single ventricular chamber has revolutionized surgical care
for conditions where there is essentially one ventricle, such as tricuspid atresia.
11
 A common difficult management problem following the Fontan
operation is:
A. Unrelenting congestive heart failure.
B. Severe mitral regurgitation.
C. Progressive left ventricular dysfunction.
D. Atrial arrhythmia, particularly atrial flutter.
E. Ventricular tachycardia.

Comment
The correct answer is D.

Atrial arrhythmias are extremely common after the Fontan operation and
probably relate to the effect of surgery done within the atrium. Atrial flutter
can be a particularly difficult rhythm to control in these patients and may severely
depress cardiac output.
12
 In which of the following diseases is pregnancy difficult, but not highly
risky to mother and fetus?

A. Eisenmenger's syndrome.

B. Primary pulmonary hypertension.

C. Hypertrophic obstructive cardiomyopathy.

D. Prior peripartum cardiomyopathy with heart failure.

E. The Marfan syndrome with dilated aortic root.

12

Comment
The correct answer is C.
The cardiovascular system must be able to handle a doubling of cardiac
output during pregnancy. Thus, cardiopulmonary diseases that obstruct
blood flow are usually contraindications to pregnancy because both the
mother and fetus get inadequate blood flow. Thus, obstruction to
pulmonary flow due to the Eisenmenger reaction or primary pulmonary
hypertension fits into this category, but hypertrophic cardiomyopathy does
not. The increased cardiac output increases venous return to the left heart
resulting in left ventricular enlargement and less obstruction. In fact,
during pregnancy the murmur of hypertrophic obstructive cardiomyopathy
may lessen or even disappear, causing the diagnosis to be missed.
Prior peripartum cardiomyopathy with heart failure is a contraindication to
pregnancy because of the high incidence of recurrent failure and death.
Hormonal changes during pregnancy alter vascular walls, making them
more distensible. This is a normal mechanism to adapt to higher cardiac
output; however, in the patient with the Marfan syndrome and an enlarged
aortic root, it can lead to increased wall stress and aortic rupture or
dissection.
13
In long-term follow-up of patients after surgical
repair of tetralogy of Fallot, the most common
dysrhythmia observed is:

A. Sinus bradycardia.

B. Atrial fibrillation.

C. Atrial tachycardia.

D. Ventricular tachycardia.

E. Junctional tachycardia.
13
 Comment
The correct answer is D.

 Complex ventricular arrhythmias often occur during long-term

follow-up of patients with tetralogy of Fallot. The incidence
correlates with age at repair and with higher residual
postoperative right ventricular systolic and end-diastolic
pressures. Sudden death accounts for a significant proportion of
the late mortality among these patients. In patients with
ventricular tachycardia, the site of origin is typically found to be
in the right ventricular outflow tract related to the previous
ventriculotomy and infundibular resection.
Bundle branch block and AV block are also observed in some
patients after repair of tetralogy of Fallot. Sinus bradycardia
and atrial dysrhythmias are common problems found in long-
term follow-up after surgical repair for transposition of the
great vessels.
14
 A 42-year-old man is referred for evaluation of a systolic murmur.
Your exam shows normal carotid pulses, a prominent apical
impulse, an early systolic sound, and a grade III/VI mid-systolic
murmur at the base. Respiration did not change the character of
these auscultatory findings. After an extrasystole, the systolic
murmur increased in intensity. Handgrip did not alter the systolic
murmur. Valsalva decreased the intensity of the murmur, and it
returned to baseline intensity after seven heart beats.
Which one of the following diagnoses is most likely?
A. Congenital pulmonic stenosis.
B. Innocent murmur.
C. Mitral valve prolapse.
D. Hypertrophic obstructive cardiomyopathy.
E. Bicuspid aortic valve.
14
 Comment
The correct answer is E.

 A systolic murmur that increases in intensity in the beat

following an extrasystole is usually due to turbulent flow
out of the ventricles. Mitral regurgitation is less likely
because this murmur does not change following an
extrasystole. The murmur of hypertrophic obstructive
myopathy usually decreases with handgrip exercise. An
innocent flow murmur is less likely because of the presence
of an early systolic sound and grade III intensity. With
pulmonic stenosis, there are characteristic changes in the
intensity of the murmur and the ejection sound during
respiration. The ejection sound establishes the diagnosis of
an abnormal aortic valve, a bicuspid valve being the most
common abnormality.
15
 A 30-year-old woman with inoperable cyanotic congenital heart
disease is scheduled for total abdominal hysterectomy for uterine
cancer. You are asked to see her for preoperative cardiac
evaluation. Her hematocrit is 66%. This is unchanged from previous
values over several years. The patient denies any bleeding
tendencies or hyperviscosity symptoms such as fatigue, headache,
or lethargy.
Which of the following is most appropriate?
A. The patient should not undergo phlebotomy.
B. The patient should undergo phlebotomy preoperatively.
C. The patient should undergo phlebotomy postoperatively.
D. The patient should undergo phlebotomy on an ongoing basis,
beginning preoperatively.
E. The patient should undergo phlebotomy on an ongoing basis,
beginning postoperatively.
15
 Comment
The correct answer is B.

 In patients with unoperated or palliated cyanotic congenital heart disease,

secondary erythrocytosis is triggered by tissue hypoxia. This increases the
hematocrit and improves the blood’s oxygen-carrying capacity, however,
symptoms of hyperviscosity may occur. Long-term cyanosis also affects
platelets and coagulation parameters. This results in abnormal hemostasis
manifested as increased bleeding tendency.
For management of secondary erythrocytosis, phlebotomy is advised under
two conditions. Phlebotomy is recommended for patients with symptoms of
hyperviscosity who are not dehydrated and who have hematocrit values
over 65%. Phlebotomy is also recommended prior to surgery in
asymptomatic patients with hematocrit values over 65% in order to
minimize surgical bleeding. Therefore, phlebotomy would be
recommended preoperatively in this patient. Because this patient does not
have hyperviscosity symptoms, postoperative phlebotomy or ongoing
phlebotomy would not be recommended.
16
 All but one of the following have a < 1% risk of maternal
mortality during pregnancy. Which has a higher risk?
A. Atrial septal defect.
B. Patent ductus arteriosus.
C. Mild mitral stenosis.
D. Marfan syndrome.
E. Mild pulmonic stenosis.
16
 Comment
The correct answer is D.

 Since pregnancy results in an approximately 50% increase in

cardiac output, the major lesions with significant pregnancy-
related cardiac mortality are those that obstruct the
circulation, such as significant aortic stenosis or lesions
where parts of the heart and vasculature are weakened such
that the increased cardiac volumes and stroke volume could
cause rupture of the structure. Such is the case with the
aorta and Marfan syndrome, so that even patients with
normal-sized aortas can experience marked aortic dilation
and rupture during pregnancy. Lesions that are volume loads
on the heart, such as atrial septal defect, patent ductus
arteriosus, and valvular regurgitation are usually well
tolerated during pregnancy with knowledgeable perinatal
care. Mild stenotic lesions are also well tolerated.
17
Which of the following results in
decreased pulmonary vascularity on chest
x-ray?
A. ASD with patent ductus arteriosus.
B. ASD with restrictive VSD.
C. ASD with tricuspid atresia and
restrictive VSD.
D. ASD with partial anomalous pulmonary
venous drainage.
17
 Comment
The correct answer is C.

 ASD with tricuspid atresia and restrictive VSD. In tricuspid

atresia, venous blood shunts across the ASD from right-to-
left and mixes with arterial blood. Blood can reach the
pulmonary circuit through the VSD, however this flow is
limited because the defect is restrictive (i.e., small). The
pulmonary system is undercirculated (Qp to Qs is < 1), and
the patient is cyanotic. The other four answers all lead to
left-to-right shunting. ASD, patent ductus arteriosus, VSD,
and partial anomalous pulmonary venous drainage all
overcirculate the pulmonary system.
 18
 A 25-year-old Caucasian man presents complaining of chest discomfort, occurring
intermittently for the past 2 months, at times severe. It lasts 5-10 minutes and is
exacerbated by taking a deep breath or heavy lifting, which he frequently does as a
warehouseman.
Family history: mother has hypertension.
Physical Examination: The patient is obese, weighing 220lb at 5' 6". BP 150/100 mmHg, P
74/min. Neck veins 5cm. Fundi: Narrowing of arterioles, no hemorrhages or A/V nicking.
There is a prominent suprasternal pulsation. Lungs are clear to auscultation and percussion.
PMI is sustained in the left 5th intercostal space in the midclavicular line. There is a systolic
ejection click and a grade II/VI systolic ejection murmur at the 2nd intercostal space, left
sternal border. The murmur can be heard in the back, loudest in the interscapular region to
the left of the spine. There is a grade II/VI diastolic blowing murmur loudest in the 3rd
intercostal space at the left sternal border. No S3 or S4 gallop. Pulses: Carotids 3+,
brachials 3+, femorals 1+.
Laboratory: ECG: LVH. Chest X-ray: Normal-sized heart, prominent ascending aorta. Echo-
Doppler: LV posterior wall 12mm and ventricular septal wall of 13mm, LV end diastolic
diameter 4.8cm and estimated EF 55%. Turbulence in diastole under the aortic valve, which
extends 3cm into the LV cavity, and a systolic jet across the aortic valve of 2.5 m/sec.
Which of the following is the most likely diagnosis?
A. Severe congenital valvular aortic stenosis.
B. Bicuspid aortic valve with severe aortic regurgitation.
C. Coarctation of the aorta.
D. Hypertrophic cardiomyopathy.
E. Essential hypertension with chest wall pain.
18
 Comment
The correct answer is C.
A is incorrect. The jet of 2.5cm is a gradient of only 25 mmHg.
B is incorrect. Although there is a bicuspid valve in up to 80% of patients
with coarctation of the aorta, and the patient has an ejection click with an
AR murmur, the pulse pressure is not wide and the LV end diastolic
diameter is not increased, making severe chronic AR unlikely.
C is correct. The patient has coarctation of the aorta. He has a systolic
murmur heard posteriorly and femoral pulses that are less palpable than
the brachial pulses, both of which are highly likely in this age group to be
consistent with aortic coarctation.
D is incorrect. Although there is an aortic systolic ejection murmur, a
systolic gradient across the aortic valve, and LVH by ECG and echo, there
is no asymmetric hypertrophy, and AR is rare with HOCM.
E is incorrect, even with a family history of hypertension, since there is a
better likelihood of another etiology for the hypertension. He did come in
with musculoskeletal chest pain.
147
Congenital Heart Defects
Acyanotic
Volume load Pressure load

Left to right shunts  Pulmonary valve

 Atrial septal defect stenosis
 Venticular septal  Aortic valve stenosis
defect  Coactation of aorta
 patent ductus
arteriosus
 AV canal
cyanotic

• pulmonary atresia tetralogy of Fallot

• total anomalous pulm.• pulmonary atresia
tricuspid atresia
Decreased
return w/ obstruction
 total anomalous
pulmonary flow pulm.
Increased • transpos. of gr. vessels
pulmonary •flow
single ventricle return w/ obstruction
 transpos. of gr. vessels
 single ventricle
• truncus arteriosus
 truncus arteriosus
 total anomalous pulm.
return w/o obstruction
Pacer wire must go to LV via SVC baffle
 The main pulmonary artery and its branches in the hilum are enlarged.
1. The peripheral pulmonary arteries are larger than normal and are
well seen in the outer third of lung field. When seen in cross section
the Ppulmonary
Fig. (22): artery is
ulmonary plethora in larger
a case than
of accompanying bronchus, (Fig. 22
ventricular septal defect. A
& 23).
catheter was introduced from an
arm vein to the superior vena
cava then to the right ventricle
and through the defect to the left
ventricle and aorta. The
pulmonary arteries are over-
filled.
Treatment of the Child with TOF
Decrease cardiac workload
Prevention of intercurrent infection
Prevention of hemoconcentration
Surgical repair

154