Approach to Patients With Adult

Congenital Heart Disease

Prof. Dr. A. Altuğ Çinçin

Marmara University Department of
Cardiology
4th Grade Lecture
 Definition
• The persistence of any structural

abnormality present at birth that

involves the heart and great arteries ( i.e
beyond 16 years of age).

• Arrhythmias and cardiomyopathies are

not covered in this definition.

• Atrial septal defect (ASD) • Partial / total Pulm.
Venous Return Anomaly
• Ventricular septal defect
(VSD)
• Pulmonary valve stenosis
• Patent ductus arteriosus
(PDA) • Ebstein anomaly

• Bicuspid aortic valve

• Double-outlet right
ventricle
• Coarctation of the aorta

• Atrioventricular canal
• Pulmonary atresia
defect
• Tetralogy of Fallot
• Congenital mitral valve
anomalies
 Epidemiology

• The epidemiology is not clear in Turkey.

• Estimated incidence is 8/1000 live births.

• More than 85% of these patients survive into

adulthood.

• There are approximately 50 million patients

with adult congenital heart disease (CHD)
world-wide
 Cause
• CHD can occur via mendelian inheritance

directly as result of a genetic abnormality.

(associated with an underlying genetic
disorder ( e.g Trisomy).

• CHD can be related environmental toxin

(maternal diabetes, alcohol, lityum intake..)

• Result from interaction between

multifactorial genetic and environmental

influences.
• A single gene mutation can be causative in
the familial forms.
Genetic
• The genes responsible for a lot of defects
have now been identified. (Holt Oram, Marfan,
Supravalvular aortic stenosis..)

• However at present less than 15% of CHD can

be accounted for by chromosomal anomalies,
or genetic mutations or transmission.

• 2 to 10 fold risk increase in the incidence of

CHD in the siblings of affected patients or in
the offspring of an affected parent.

• Malformations are often concordant or

partially concordant with families

• Therefore, routine fetal cardiac screening of

subsequent pregnancies should be performed.
 Chromosomal
Abnormalities
• Trisomy 21
AVSD

• Trisomy 18
Down Syndrome single palmar crease, special face with flatened small nose, small-hypoplastic ears

VSD
Edwards
•
rocker bottom feet, overlapping fingers, clenched fist, short sternum
Trisomy 13
Syndrome
PDA, VSD, ASD
Patav Syndrome Cleft lip + palate, extra fingers or toes

• DiGeorge Syndrome
Arch Anomalies,
Truncus arteriosus, TOF
CATCH 22, Cardiac abn, facial abnorm, timik aplasia, cleft palate, hypoparathyroidim/Hypocalcemia

• Turner’s syndrome Aortic Coarctation

rudimenter ovaries, short stature, skin folding on neck, elbow deformity

Supraaortic and PA stenosis

• Willimas syndrome
low nasal bridge, abnormal face, hypertelorism, ptozis, cryptorchidism, small chin, wide mouth

Dysplactic Pulmonary valve

• Noonan Syndrome
PDA, VSD, ASD

• Cri-du-chat syndrome
 Environmental Toxins /
Infect.
• Maternal diabetes Tetralogy of
fallot
Pulmonary atrezia

PDA,
• Rubella pulmonary valve and/or arterial stenosis,
and ASD

Tricuspid valve
• Lithium anomalies
VSD
and other cardiac
• Chronic alcohol abuse defects
How can we classify them
?

• According to complexity / severity

• According to extense of cyanosis

• According to pathophysiology
How can we classify them
?
• According to complexity / severity
• Simple / moderate / complex

• According to extense of cyanosis

• Cyanotic diseases/Acyanotic diseases

• According to pathophysiology

• Obstrucitve, L-R shunting,

increased/decrease pulm. flow.
1.Adult Patients with Simple Congenital Heart
Disease

Native Disease Repaired Conditions

Isolated congenital aortic valve disease Previously ligated or occluded ductus arteriosus

Isolated congenital mitral valve disease (except parachute Repaired secundum or sinus venosus ASD without
valve, cleft leaflet) residual shunt

Isolated patent foramen ovale or small atrial septal defect

Repaired VSD without residual shunt
(ASD )

Isolated small ventricular septal defect ( VSD)

Mild pulmonic stenosis

 2.Adult Patients with Moderate Severity of Congenital
Heart Disease
Subvalvular or supravalvular
Aorto–left ventricular fistulas
aortic stenosis (except HOCM)
Anomalous pulmonary venous drainage,
Tetralogy of Fallot
partial or total

AV septal defects (partial or complete) VSD with the following:

Coarctation of the aorta • Absent valve or valves

• Aortic regurgitation
Ebstein anomaly

Infundibular right ventricular outflow

• Coarctation of the aorta
obstruction of significance
• Mitral disease
Ostium primum ASD
• Right ventricular outflow tract obstruction
PDA (not closed) • Straddling tricuspid/mitral valve
Pulmonary valve regurgitation (moderate to
• Subaortic stenosis
severe)

Pulmonic valve stenosis (moderate to severe)

Sinus of Valsalva fistula/aneurysm

Sinus venosus ASD

 3. Adult Patients with CHD
of Great Complexity/Severity
Eisenmenger Syndrome

All form of cyanotic CHD

Double Outlet ventricle

Mitral Atresia

Truncus arteriosus/Hemi truncus,

Single ventricle (also called double inlet/outlet, common/primitive

Pulmonary atresia (all forms)

Pulmonary vascular obstructive diseases

Transposition of great arteries

Tricuspid atresia

Patients Fontan Procedure

Patients with Conduits, (valved or not valved)

Mostly used…
 Pathologic Consequences
of CHD
• Cyanosis

• Congestive heart failure

• Pulmonary Hypertension

• Eisenmenger syndrome

• Chest pain

• Cardiac arrhythmias

• Infective endocarditis

• Sudden death
 Cyanosi
•
s
Caused by >5g/dL

deoxyhemoglobin.

• Bluish-purple coloring in thin

skin parts due to reductated

Hb.

• Central / Peripheric
✔Desaturated Hb. accumulates in
peripheric tissue.
✔Visible in thin skin parts.
✔ Arterial obstruction
✔ Peripheric arterial disease
✔ Heart Failure (low output)
✔Desaturated Hb. circulates in
whole system.
✔Visible in thin skin parts and
mucoza
✔ Congenital defects
✔ Hemoglobinopaties
✔ Severe respiratory illnesses
 Central Cyanosis

%95

Hg
m
5
m
7
5
7%

>5gr/dl

✔Altitude?, temperature ?
✔Level of Hb is important
✔ Easy to see in polystemia, hard to see in anemia (<10g/dl)
✔ Shunts and Congenital defects
✔ Sometimes continious, sometimes increases with exercise
Cardiac defects causing
central cyanosis
 Pulmonary Hypertension
• Pulmonary
hypertension
is a common
accompanimen
t of many
congenital
cardiac
lesions.
• The status of the pulmonary vascular bed is
often the principal determinant of the clinical
manifestations, the course, and whether
corrective treatment is feasible.

• Increases in pulmonary arterial pressure result

from elevations in pulmonary blood flow and/or
increase in pulmonary vascular resistance (PVR).
 Eisenmenger Syndrome

• Eisenmenger syndrome, a term coined by Paul

Wood (1958)

• Defined as PAH with reversed shunt.

Pulmonary vascular obstructive disease that
develops as a consequence of a large
left-to-right shunt such that pulmonary
artery pressures approach systemic levels
and the direction of flow becomes
bidirectional or right to left.
Evolution of Eisenmenger
 Clinical Findings in
Eissenmenger
• Clinical findings are related to their cyanotic state.

• Profound hypoxemia, Clubbing, Polycythemia and

hyperviscosity are the main findings of patients with
Eisenmenger Syndrome.

• Palpitations (Atrial flut/fib in 35%, VT in up to 10%)

• Hemoptysis in 20% (bleeding bronchial vessel/pulmonary

infarction

• Pulmonary thromboembolism in 10 %

• Angina in 10 %

• Syncope in 10 %

• Endocarditis in 10 %
 Causes of death in the
Eisenmenger
• Sudden death (30%)
• Congestive heart failure (25%)
• Pulmonary hemorrhage (15 %)
• Infectious causes (Infective endocarditis, Brain
abscesses)
• Pregnancy (is contraindicated in patients with
Eisenmenger)
• Non cardiac surgery
• Therapy in Eisenmenger
In general, an approach of non-intervention has
traditionally been recommended.
• Flu shots and pneumococcal vaccine.
• Iron replacement
• Antiarrhythmic management of atrial arrhythmias,
• Diuretics for right-sided heart failure.
• Supplemental oxygen has been shown to have no
impact on exercise capacity or on survival.
• Medical Therapy includes;

• Endothelin receptor antagonists: Bosentan

improves functional capacity of patients with
Eisenmenger

• Phosphodiesterase inhibitor: Sildenafil improves 6

minutes walking test and modestly improve
 Acyanotic congenital
• Shunts / heart disease
obstructions
• Defects - holes
• Valvular stenosis
• L to R shunts cause
Congestive heart
failure and
pulmonary
hypertension
• This leads to RV
enlargement and
RV failure
 Defects (holes)

LEFT TO RIGHT SHUNT

ASD
• (ACYANOTIC
Allows DEFECTs)
already saturated

blood back to lungs VSD

• Increased cardiac workload.

PDA
• Excessive pulmonary blood
flow

• Right ventricular strain,

dilation, hypertrophy.
Adults with CHD
 Natural History
• Patients with communication between
systemic and pulmonary system at level of
aort or heart level usually have healthy
childhood.

• Exercise intolerance ( dyspnea and fatigue)

(proportional to degree of hypoxemia/)

• Most patients survive to adulthood (with

reported 77% and 42% survival rates at 15
and 25 years of age, respectively).

• Gradually become cyanotic during their

second or third decade according to feature
of the disease they have
 Simple defects can
result in Eisenmenger Complex defects can
Syndrome later in result in Eisenmenger
childhood or in Syndrome more earlier
adulthood • AV septal defects
• ASD
• Truncus arteriosus
• VSD
• Aorta-pulmonary
window
• PDA
• Uni-ventricular heart
A rise of pulmonary vascular resistance generally
established in early childhood (often by 4 years of age,
except in those with ASD) and sometimes present from
birth.
 Atrial Septal Defect

• ASD is abnormal opening between left and right

atrium it is an example of left to right shunt.
 Different Types of ASD

1. Ostium secundum
ASD

2. Ostium primum
type ASD(AV
septal defec)

3. Sinus venosus ASD

• Asymptomatic in early
Clinical Physical
life
Features Examination
• Right-sided volume
• Exercise intolerance overload
• Dyspnea • Wide fixed splitting
• Heart Failure S2

• PVR increases with age

• Late systolic
murmur
PHT develops.

• Advanced cases; • MR murmur in

Eisenmenger syndrome
primum ASD
develops (rare) • Small peripheral
• Arrhythmias and ECG pulse due to
changes decreased LV
outflow
Physical findings of ASD
 Chest X-Ray

• Prominent central centralization

pulmonary arteries

PA

• Prominent right
RA
atrium
 R’
r
s

ASD; RBBB

NORMAL
ECG
 Closure of ASD

• Defects < 8 mm 80% close spontaneously

• Defects > 8 mm unlikely to close
• Spontaneous closure unlikely after 4 years of
age
• If shunt is >1.5 (Qp/Qs) or RV volume
overload is occurred closure is indicated .

TREAT BEFORE SEVERE PULMONARY HYPERTENSION

DEVELOPS!
Echocardiograp Right Heart
hy Cath

• Type of defect • Oxygen step up

• Calculate shunt degree

• Defect size
• Qp/QS
• Rv size and function
• Pulmonary vascular resistance !!!
• Estimated systolic pulmonary
arterial pressure • Pulmonary arterial pressure
 Closure of ASD

PERCUTANENOUS CLOSURE SURGERY

 Ventricular Septal Defect
• Most common CHD 40%
(newborn)
• High Pressure in LV
forces blood back to RV
• Results in increased
pulmonary blood flow
(heart must pump
extra blood), higher
than normal artery
pressure
• Down syndrome, Di
George Syndrome,
Turner syndrome
 Classification of VSD
• Musculer

• Perimembraneous
Inlet

According to
Outlet Opening on right side

Trabecular

• Large,
e
medium,small, ht s i d
Rig
 interventricular septum
allows communication
between the systemic Left to right
Pathophysiology
and pulmonary shunt
circulations.
• A left-to-right shunt at the
• Flow moves from a ventricular level has 3
hemodynamic consequences:
region of high pressure
to a region of low 1. Increased RV volume load and
pressure—that is, from excessive pulmonary blood flow

the LV to the RV (a 2. Reduced systemic cardiac output

left-to-right shunt).
3. Elevated pulmonary artery
pressure
• The pathophysiologic
effects of a VSD derive
from the hemodynamic
 Clinical Features
Varies according to : size of defect , pulmonary
blood flow & pressure
Small VSD :
• Most often asymptomatic .
• Loud , harsh , blowing , holosystolic murmur,
frequently accompanied by thrill (4-5/6).

• Small VSD spontaneous closure :

• 30 – 50 % most often during first 2 years
of life (small muscular are > likely to close (
up to 80 % ) than membranous (up to 35 %
).
 VSD diagnosis

1.Echocardiography

2.Chest X-Ray :
Small VSD : Normal or minimal cardiomegaly .
Large VSD : Gross cardiomegaly, Prominent
pulmonary vascularity .

3. ECG:
Small VSD : Normal or may show LV
hypertrophy.
Large VSD : Biventricular hypertrophy, notched
p-wave
Complication
Treatment
s
• Pulmonary • Based on echocardiography,
Hypertension clinical features and Right
heart cath.

• Eisenmenger • In selected patients

syndrome percutaneous closure

• Aortic regurgitation • Surgery

• Asymptomatic patients with

• Infective endocarditis very small defect, we may
not close defect and only
follow up.
 Patent
• Persistent Ductus Arteriosus
communication (PDA)
between the
descending thoracic
aorta and pulmonary
artery that results
from failure of normal
physiologic closure of
the fetal ductus

• Frequently diagnosed in
infants, the discovery
of this condition may
be delayed until
 Causes of PDA
• Congenital rubella infection in the

first trimester of particularly

through 4 weeks' gestation

• Fetal alcohol syndrome

• Maternal amphetamine use
• Maternal phenytoin use
• Premature birth
 Clinical Physical
Presentation Examination
Adults

• Dynamic precordium
• Heart failure
• Apical impulse is
• Pulmonary laterally displaced

Hypertension • Thrill in suprasternal

notch
• Atrial arrhythmias
• Machinery continuous
• Eisenmenger murmur accentuated
in systole loudest at
syndrome
left upper chest
• Differential • Bounding pulses
cyanosis
Differantial cyanosis and
clubbing
Physical findings of PDA
 Treatment of PDA

PERCUTANENOUS CLOSURE

Mostly percutaneously
Rarely by surgery
ligation
 Coarctation of Aorta

• Narrowing of aorta
• Can occur anywhere
more common after the
aortic arcus
• The obstruction
restricts the flow to
the lower part of the
body
• Frequency 8-11% of all
children with CHD
 Coarctation of Aorta
• High blood pressure Associated
before point of Pathologies:
coarctation
• Low blood pressure • Collateral circulation
after point of • Aneurysm formation in
intercostal arteries- rib
coarctation notching 3- 4th ribs
• Left ventricle overload, • Coronary artery dilatation and
hypertropy, heart tortiosity

failure • Bicuspid aortic valve 40-80 %

• Intracranial aneurysm
• Systemic perfusion
• Turner and Noonan’s syndrome
depends on ductal flow risk increase
(if its working) and
 Coarctation of Aorta
• A pressure difference
of more than 20
mmHg between
Physical upper
Findings
and lower
extremities
• Systolic murmur over
thoracic spine at the
back!
• Diminished and
delayed pulses in
lower extremities
• Arterial hypertension
measured in upper
Physical findings
 Coarctation of Aorta
• ECG: Left ventricle
hypertrohy
• Echocardiography
can show coarctation
and pressure difference
as well as associated
anomalies
• CT / MRI angiography
is the gold standard
• Catheterization is
needed if percutaneous
closure is indicated
 Treatment
Surgery repair of
Percutaneous- Stent coarctation
Implantation
 Cyanotic Congential
Defects
• know about;

• What is TOF,Ebstein Anomaly,Truncus

Arteriosus and TGA

• know about survey without treatment…

• know (little) about treatment opportunities.

TOF; Tetralogy of Fallot

• Malposition of aorta
• Pulmonary stenosis
• VSD
• RV enlargement
 TOF; Tetralogy of Fallot
• Survival;

• 30 year survival > 90% with repair

• Adults with repaired ToF develop late complications,

• progressive exercise intolerance,

• arrhythmias,

• and heart failure

These complications are mainly due to pulmonary regurgitation, which leads to

right ventricle dysfunction
Ebstein Anomaly

• Displaced tricuspide valve.

• Atrialization in RV
• Evident tricuspide regurgitation
• ASD togetherness increased
Truncus Arteriosus

• One vessel from heart

• VSD (must)
TGA, Transposition of
Great Arteries

• Two main arteries are transposed

• RV to aorta, LV to PA
• Early surgery indicated…