Approach to Adult patients with

Congenital Heart Disease (CHD)

Dr. Mudhafar Barzani
MBChB, DM, PhD,FRCP (London), FRCP (Glasg)
Consultant Cardiologist
College of Medicine/ Hawler Medical University 1
objectives:

» To make you aware that CHD may be the

cause of heart disease in adult
» To make you familiar with clinical
presentations of CHD in adult and how to
investigate them
» To let you know the way that these
diseases are treated

2
Congenital Heart Disease (CHD)
» Complicates 1% of all live births in the general
population, but occur in 4% of offspring of women
with CHD

» Substantial numbers of affected infants and children

(>85%) reach adulthood because of successful
medical and surgical management

» Malformations that are benign or escape detection in

childhood become clinically significant in adult
3
Classification of CHD

» Acyanotic CHD (VSD, PS, ASD)

» Cyanotic congenital heart disease (TOF)

» Simple congenital heart disease

» Complex congenital heart disease

4
Adult Congenital Heart Disease
• Atrial Septal Defect
• Coarctation of Aorta
• Tetralogy of Fallot
• Transposition of Great Arteries
• Common Ventricle/Fontan Procedure
• Ebstiens Anomaly
• Eisenmenger Syndrome
Daniels, CJ. Congenital Heart Disease. ACCSAP V
Complications of CHD

» Heart Failure
» Arrhythmia
» Infective Endocarditis
» Pulmonary Hypertension
» Stroke
» Death

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Patent Foramen
Ovale

» Remains patent in 25% to 30% of the

general population
» Often incidentally noted by tranthoracic
echocardiography
» May be the cause of cryptogenic stroke
due to paradoxical embolisation
» PFO closure may be considered for 8
Atrial Septal Defect ( ASD)
Three main types:
• Secundum (75%)
– Most common ACHD (6-10%)
– Right axis deviation
• Primum (15%-20%)
– Associated with other endocardial cushion
defects (cleft AV valves, inlet type VSD)
– Left axis deviation
• Sinus Venosus (5%-10%)
– large, associated with anomalous
pulmonary venous drainage
Atrial Septal Defect
(ASD)
• Familial (linked to
chromosome 5), associated
with down syndrome, may be
autosomal dominant
• Asymptomatic

• Symptomatic
– Dyspnea
– Fatigue
– Paradoxical
embolisation
10
– Atrial Fibrillation
Clinical Findings

• Jugular venous distention

• Left parasternal impulse
• Increased flow across the pulmonary
valve produces a systolic ejection
murmur
• fixed splitting of the second heart
sound.
• Increased flow across the TV
produces a diastolic rumble at the
mid to lower right sternal border.

• ECG: RAD, incomplete RBBB, RA enlargement

• CXR: right heart enlargement, prominent PA, increased pulmonary vascularity
• Echocardiogram: right chambers dilatation, TR, Pulmonary hypertension
• Exercise testing
• diagnostic catheterisation only in ASD with pulmonary hypertension
ASD: Therapy
• The main indications for closure are:
- Presence of symptoms.
- Right side chambers
dilatation.
- Paradoxical embolisation
• Percutaneous Closure
– Only for Ostium Secundum ASD
– 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 atrial
fibrillation
Ventricular septal defect

» VSD are the most common congenital heart

defects at birth, but the frequency decreases
substantially by adulthood because of
spontaneous closure of small defects
» Four types are defined according to their
location on ventricular septum:
- Perimembranous (80%).
- Subpulmonary or outlet VSD (6%).
- Muscular VSD (rare in adult).
- Inlet VSD (associated with ASD in complete
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atrioventricular septal defect)
Clinical presentation
» Small-sized VSD: Asymptomatic but produce
pansystolic murmur at left lower sternum, may
complicate with endocarditis
» Moderate-sized VSD: Patient may remain
asymptomatic for many years but eventually
present with features of left ventricular volume
overload and pulmonary hypertension
» Large-sized VSD: associated with moderate
or large left to right shunt are usually detected
in childhood through the presence of murmur,
heart failure and failed to thrive. without closure
early in life fixed pulmonary hypertension and
eisenmenger may ensue. 15
Diagnostic evaluation
» ECG
» CXR
» Echocardiography
» CMR
» Cardiac cathterization

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Treatment

» Closure of VSD is indicated for

patients with:
» Left ventricular volume overload
» Pulmonary to systemic blood flow
(Qp:Qs) ratio greater than 2
» Those with history of endocarditis

» Percutaneous device closure is

possible for selected VSD, but 17
Patent Ductus Arteriosus

» Connect aorta and pulmonary artery

during fetal life
» Small PDA produces an arteriovenous
fistula with a continuous murmur
» Moderate PDA presents with
machinery murmur with symptoms of
heart failure with wide pulse pressure
and LV volume overload.
» Large VSD may cause pulmonary
18
hypertension and differential cyanosis
Treatment:

» Closure of PDA either:

» Percutaneously
» Surgically is indicated for left
atrial and ventricular enlargement
in the absence of pulmonary
hypertension

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Pulmonary valve stenosis

» Common congenital heart disease in

adult
» Asymtomatic in Mild PS
» Moderate and severe PS may have
exertional dyspnea
» Left parasternal lift
» Ejection systolic click
» Mid-systolic murmur
» Splitting of second heart sound 20
 Investigation
» ECG
» CXR
» ECHOCARDIOGRAPHY
Treatment
» Ballon pulmonary valvuloplasty if
max. PG across the PV is more than
60% or mean PG more than 40%

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Coarctation of Aorta
• Is a discrete narrowing in
proximal descending
aorta beyond the left
subclavian artery
• May present with
exertional headache, leg
fatigue, or claudication
• Bicuspid aortic valve is
present in 50% of patients
with coarctation of aorta
• Aortic coarctation is
common in Turner
syndrome
 Clinical findings
• Most repaired, but adult presentation may be:
– Upper extremity hypertension
– Reduced BP and pulses in lower extremities
– Radio- Femoral delay
– Mid-systolic murmur heard left infraclavicular region or
over the back
• Diagnostic Evaluation:
- ECG: LVH + ST-T wave abnormalities.
- CXR:Dilated ascending aorta+ figure 3-sign+Rib notching
-
Transthoracic echocardiography. -
CMR and CT
• Rib notching on CXR pathognomonic
Causes of morbidity and mortality

» Systemic hypertension
» Accelerated coronary
artery disease
» Stroke
» Aortic dissection
» Heart failure

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Coarctation Repair
• Intervention for aortic coarctation
is recommended when the systolic
peak-to-peak gradient is 20 mmHg
or higher

1) Surgical treatment is often preferred

for patients with primary coarctation

2) Percutaneous intervention

is prefered for patients with

recoarctation
Follow-up after coarctation repair
• Despite surgery, patients still have significant
morbidity/mortality with average age 38

• Up to 70% of repaired patients still go on to

develop HTN

• Recurrence in 8-54% of repairs, can undergo

repeat surgery or balloon angioplasty

• Aortic Aneurysm/ruputure may occur despite

successful repair and correction of HTN
(frequently around anastomosis site on patch
repair – 30% in one study)
 Tetralogy of Fallot (TOF)

• TOF is most common cyanotic

congenital heart disease
• Four features:
– Large subaortic VSD
– Aortic override

– Pulmonic Stenosis

– Right ventricular hypertrophy

• Variability correlates with

degree of RVOT obstruction
and size/anatomy of PA
Tetralogy of Fallot

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TOF - Electrocardogram

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Tetralogy: Surgical Treatment

• Successful surgical repair of tetralogy of fallot

results in near normal survival

• Complete Repair
– takedown of prior shunt
– patch VSD
– resection of subpulmonic obstruction
– transannular patch around pulmonary valve annulus
(usually leads to severe PI)
Tetralogy: Risk/followup
• Pulmonary valve regurgitation is the most
common residua after repair, causing
progressive right heart enlargement, tricuspid
regurgitation and increased risk of for atrial
fibrillation and ventricular arrhythmias
• The QRS duration reflects the degree of right
ventricular dilatation, a QRS duration of 180
mesc or longer and non-sustained ventricular
tachycardia are risk factors for sudden cardiac
death

• Pulmonary valve regurgitation is the most common

reason for reoperation in patients after repair of TOF
Fontan: complications
• Arrhythmias
– most pt develop SSS/tachy-brady
• Heart Failure
• RA may become enlarged and source for
thrombus ( with older Fontan), can undergo
Fontan revision with bypass of
RA/extracardiac graft
• Uncorrected patients develop polycythemia
and treatment becomes palliative at this point
Adult with cyanotic CHD

» Unrepaired or palliated complex

congital heart disease as:
» Tetralogy of Fallot
» Tricuspid Atresia
» Truncus arteriosus
» Eisenmenger Syndrome

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 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
Eisenmenger Complications
• Coagulopathy/platelet consumption
• Paradoxical cerebral micro-emboli and
abscess
• Gall stones
• Arthropathy and arthritis
• Kidney dysfunction
• Airway hemorrhage
– especially moving from lowerhigher altitudes
(air travel, mountains)
Eisenmenger: Treatment
• Polycythemia  phlebotomy only if Hg >20g/dl
or hematocrit >65% + hyper viscosity symptoms
– Careful if microcytosis, strongest predictor of
cerebrovascular events
• RULE OUT CORRECTABLE DISEASE
• Once diagnosis established, avoid aggressive
testing as many patients die during
cardiovascular procedures
• Pulmonary vasodilator therapy may result in
clinical improvement
• Definitive: Heart Lung transplant
Pregnancy in Women with CHD

Women with the following CHD should avoid pregnancy:

» Cyanotic CHD
» Pulmonary hypertension
» Marfan syndrome with dilated aortic root
» Severe aortic stenosis

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Summary
» CHD in adult is not uncommon
» CHD may be the cause of left or right side
heart failure in adult
» CHD may be the cause of pulmonary
hypertension in adult
» CHD may be the cause of systemic
hypertension
» Diagnosis can usually be made non
invasively by echocardiography
» Early diagnosis give the the opportunity of
41
cure to patients with CHD
• A 36-year-old man is employed, active, and
asymptomatic. during routine medical check-
up a grade-2 mid-systolic murmur detected in
pulmonary area with wide splitting of the
second heart sound. 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.

• what is the differential diagnosis ?

• how o confirm the diagnosis ?
• what treatment you will recommend him ?