Congenital heart

disease in Adults
Introduction
• Congenital heart disease (CHD) refers to all morphological anomalies of the heart and
large blood vessels present at birth.
• A CHD may manifest itself clinically at any time during one's life.
• The prevalence of CHD at birth varies between 6 and 10 per 1000 live births.
• The fetal prevalence of CHD is higher.
• CHD is one of the biggest success stories in medicine.
• The introduction of new diagnostic and therapeutic modalities has dramatically
changed both survival and the survival pattern during the last five decades 20% of
abortions, in 10% of stillborn and 1% of live-born children.
• In the 1950s, only 20% of children with complex CHD reached adulthood: today, 90%
or more of these children are surviving into adulthood due to great advances in
medicine.
Introduction
Introduction
Etiology
• 15-20% of cases, a cause is founded.
• Causes:
• Toxic( lithium,diphenylhydantoin)
• Infection: Rubella
• Chromosomal abnormalities: trisomy 21, trisomy 13, trisomy 18
• Recessive phylogenetic transmission
• Recessive autosomic transmission(Atrial septal defects, Fallot’s
Tetralogy, Coarctation of the Aorta).
Pathophysiology
• After embryological development de non closure of antennal defects
leads to complex situations.
• Classification:
• Left to right shunt
• Right to left shunt
• Obstacles without shunt
• Complex congenital heart diseases
Pathophysiology
• Left to right shunt
• Atrial septal defect,ventricular septal defect or patent ductus arteriosis.
• The blood flow from arterial to veinous system leads to an increase cardiac
output in lung circulation and pulmonary hypertension.
• Consequences: heart failure,respiratory disorders and pulmonary artery
disease.
• Pulmonary hypertension if severe may lead to a decrease shunt or an
inversion of this one leading to a contre-indication of surgerical treatment.
Pathophysiology
• Right to left shunt
• Cyanosis+++. Blood from the vena cava entering the aorta.
• Obstacle on the pulmonary way associated to a septal defect acts trough this
mechanism.
• The tetralogy of Fallot:
• Right ventricular outflow tract obstruction (RVOTO){infundibular stenosis, often in
combination with valvular and supravalvular pulmonary artery stenosis};
• A large (nonrestrictive) perimembraneous VSD with extension to the outlet septum
{malalignment VSD};
• Aortic overriding {<50%; at a higher degree of overriding, the defect is classified as a
double-outlet right ventricle};
• Consecutive right ventricular hypertrophy.
Pathophysiology
• The trilogy of Fallot:
• Pulmonic valve stenosis
• ASD
• Consecutive right ventricular hypertrophy
• Ebstein’s disease :
• Low implantation of tricuspid valve
• + ASD
• Transposition of the great vessels ( Aorta↔ Right ventricle; Pulmonary
artery↔ Left ventricle), it may be associated with a septal defect.
Pathophysiology
• There may be a complete mixed of blood flow from right and left
• Tricuspid valve atresia,
• Functionnally single ventricle,
• Single arterial truncus,
• Abnormal pulmonary venous blood flow.
Clear lungs # increased blood flow in the lungs
Pathophysiology
• Obstacles without shunt
• Valvular
• Sub-valvular
• blood vessels
• Ventricular pressure overload…
• Pulmonic valve stenosis
• Congenital aortic stenosis
• Coarctation, the Aorta’s isthmus
Diagnosis in children
• Signs and symptoms:
• Hypoxia + cyanosis/ polycythemia +increased hematocrit/finger clubbing/Squatting
• Pneumonia
• Endocarditis
• Heart failure/ congestion+++
• Auscultation:
• Murmur: regurgitation/rumble
• Absence of S2( valvular stenosis)
• Split of S2 ( increased blood pressure down to the valve or defect)
• Pulse:
• Absence or decreased volume ( stenosis or atresia ahead to the blood vessel)
Diagnosis
• Investigations
• FBC/ESR/CRP/BNP
• Chest X-Ray
• ECG
• Cardiac echography
• MRI
• Catheterism and Angiography
Diagnosis in Adults- Left to right
shunt/VSD
• VSD/Ventricular septal defects
• In the normal heart, the interventricular septum has:
• a fibrous component – the so-called membranous septum –
• and three muscular components: the inlet septum, the trabecular septum, and the
outlet or infundibular septum.
• A ventricular septal defect (VSD) is a congenital communication between the
two ventricles.
• VSD may be isolated or part of more complex congenital heart disease (CHD).
Diagnosis in Adults- Left to right
shunt/VSD
• VSD are divided into the following types :
• • Perimembranous or membranous VSD – part of the defect occupies the area of
membranous septum:[accounts for about 60–80% of all VSD]
• with extension to the inlet septum (atrioventricular septal defect (AVSD) or canal type);
• with extension to the trabecular septum;
• with extension to the outlet – (infundibular) septum (Fallot type).
• • Muscular VSD – the defect is completely surrounded by a muscular rim:
[account for some 5–20% of all VSD].
• in the inlet septum;
• in the trabecular septum (central, marginal, apical);
• in the outlet septum (infundibular).
• • Doubly committed (subarterial) VSD.
Diagnosis in Adults- Left to right
shunt/VSD
• Symptoms
• A minor VSD is usually asymptomatic.
• A moderate VSD may be associated with palpitations and exertional dyspnea.
• Syncope is a rare manifestation of right ventricular outflow tract obstruction
due to a prolapse of the coronary cusp into the VSD.
• Eisenmenger syndrome is associated with cyanosis, dyspnea, palpitations,
hemoptysis, and syncope.
Diagnosis in Adults- Left to right
shunt/VSD
General examination
• Prominent and hyperactive precordium.
• Systolic thrill at the left lower sternal border.
• Palpable S2 if pulmonary hypertension
Diagnosis in Adults- Left to right
shunt/VSD
• Auscultatory
• The systolic murmur from VSD, is loud, and is often located in the third to fourth left parasternal
intercostal space.
• With minor muscular defects, the murmur is limited to the early systole, as the defect will close on
myocardial contraction.
• The typical systolic murmur disappears if pulmonary hypertension develops.
• In a small VSD, the second heart sound is normal.
• With a moderate shunt, P2 will increase, and with obstructive pulmonary vascular disease the second
sound will become single and loud.
• There may be a diastolic regurgitant murmur due to pulmonary regurgitation in pulmonary hypertension.
• Prolapse of the aortic valve cusp into the defect leads to the diastolic murmur of aortic regurgitation.
• A significant shunt is associated with S III and a diastolic rumble of relative mitral valve stenosis at the
apex.
• Concomitant pulmonary artery stenosis is associated with systolic ejection murmur with a maximum over
the pulmonary artery, while, in the presence of infundibular stenosis, the auscultatory maximum is lower,
in the third left parasternal intercostal space.
Diagnosis in Adults- Left to right
shunt/VSD
• Chest X-ray
• In a small VSD, heart size and pulmonary vasculature is normal.
• A moderate or large VSD is associated with enlargement of the left
atrium, left ventricle and pulmonary artery. The central and
peripheral pulmonary vascular markings are increased.
• In a large VSD with increased pulmonary vascular resistance, the
heart size is normal. Due to the right ventricular hypertrophy the
cardiac apex is rotated upward, to the left. The main pulmonary
artery is prominent and the peripheral pulmonary vascular markings
are increased in the outer third.
Diagnosis in Adults- Left to right
shunt/VSD
• Electrocardiogram (ECG)
• The ECG recording obtained in patients with a small VSD may be normal
• With a moderate VSD, left atrial and left ventricular hypertrophy
reflects left ventricular volume overload.
• A more than moderate VSD shows left and right ventricular
hypertrophy.
• Eisenmenger ECG is dominated by right ventricular hypertrophy.
• Surgical closure of VSD is frequently followed by right bundle branch
block.
Diagnosis in Adults- Left to right
shunt/VSD
• Echocardiography
• Echocardiography is a sensitive technique with an excellent detection
rate (up to 95%), depending on the size and location of the defect. It
is particularly sensitive in perimembranous, inlet, or outlet VSD, if
they are >5mm. The echo-sensitivity in apical muscular VSD is lower
• Catheterization
• Pulmonary biopsy
Diagnosis in Adults- Left to right
shunt/VSD
• Complications:
• If untreated, VSD predispose to:
• endocarditis,
• arrhythmias,
• heart failure,
• aortic regurgitation,
• and to obstructive pulmonary vascular disease.
Diagnosis in Adults- Left to right
shunt/VSD
• Management
• The treatment of isolated VSD depends on the type, size and location of the defect, the
amount of shunt, pulmonary vascular resistance, functional ability, and on associated or
acquired anomalies.
• Operative treatment is intended to increase long-term prognosis, to lower pulmonary
artery pressure and resistance, to improve the functional status, and to minimize the risk
of endocarditis.
• Surgical treatment is performed by closing the defect directly or with a patch.
• Usually, perimembranous and inlet defects are repaired transatrial; outlet septum defects
through the pulmonary valve; and muscular defects through an apical left ventriculotomy.
• Major defects are closed surgically in the first year of life when pulmonary hypertension is
usually still reversible.
Diagnosis in Adults- Left to right
shunt/ASD
• Anatomical notes
• Secundum atrial septal defect : This defect is the most common form of congenital
malformations in adults, accounting for about 70% of all defects at the atrial level. It is
located at the level of the oval fossa, or dorsally to it, and is called secundum defect,
in spite of the fact that the oval fossa is primum septum. There may be multiple
defects (fenestrated interatrial septum). It is caused by a deficit, perforation or
absence of the thin flap valve of the oval fossa (septum ovale) derived from the
septum primum and attached to the atrial septum from the side of the left atrium.
• In adulthood, in the presence of severe atrial dilatation, whatever the cause, the flap
valve may become insufficient to overlap the rim, resulting in acquired ASD (. In
contrast, excessive tissue of the oval fossa valve results in the formation of an atrial
septal aneurysm, bulging into the right atrium; it may present with multiple
fenestrations.
Diagnosis in Adults- Left to right
shunt/ASD
• Superior sinus venosus defect: This defect is due to abnormal
development of the sinus venosus in relation to the pulmonary veins,
it is not a defect in the interatrial septum and accounts for about 5–
10% of communications between the atria; it is localized below the
entry of the superior caval vein.
• The superior sinus venosus defect is often localized within the mouth
of the superior caval vein (the superior caval vein overrides the rim of
the fossa ovalis – a characteristic anatomical feature), thus entering
both atria (biatrial connection)
Diagnosis in Adults- Left to right
shunt/ASD
• Inferior sinus venosus defect: This defect is rare and accountsfor about 2%
of all defects at atrial levels; it is localized in the mouth of the inferior caval
vein and is occasionally associated with partial anomalous return of the
right lower pulmonary veins. A solid lower rim is absent with the defect.
• The Eustachian fold may constitute a false rim of the defect and detour
blood from the vena cava inferior to the left atrium. This type of defect
may thus be an undetected cause of cyanosis in adulthood.
• Defect of the coronary sinus (unroofed coronary sinus): This is a very rare
defect: the defect is in the wall separating the coronary sinus from the left
atrium. It is usually associated with persistence of the left superior vena
cava, emptying into the left atrium or into the coronary sinus.
Diagnosis in Adults- Left to right
shunt/ASD
• ASD of the ostium primum type constitutes an incomplete form of
atrioventricular septal defect . It accounts for 15–20% of all defects at
atrial level.
• Patent foramen ovale is not considered a defect; it occurs in 25–30%
of the population at large.
Diagnosis in Adults- Left to right
shunt/ASD
• Prevalence
• ASD is a frequent congenital heart disease (CHD), accounting for about 9–11%
of all CHD in childhood.
• Given the good natural prognosis and the fact the defect is frequently not
diagnosed until adulthood, ASD accounts for 22–30% of all CHD in series of
adult patients.
• It is the most frequent CHD in adults (except bicuspid aortic valve). It can
occur in isolation or in association with other cardiac defects
Diagnosis in Adults- Left to right
shunt/ASD
• Clinical findings and diagnosis
• A typical feature of ASD in adulthood is its prolonged asymptomatic course. In their
youth, many patients with even a major ASD practiced sports experiencing no
problems at all.
• Symptoms set in insidiously, most often after the age of 40 or 50.
• In women, the clinical status may deteriorate during pregnancy or after delivery.
• In adults with an ASD who are less than 40 years of age, there is no correlation
between symptoms (NYHA class) and the size of a
• shunt. But, the development of symptoms does correlate with age. Most patients
with an ASD who are in their sixties experience problems; however, exertional
dyspnea and reduced physical fitness are usually ascribed to physiological changes
associated with aging, and lifestyle is modified accordingly.
Diagnosis in Adults- Left to right
shunt/ASD
• The clinical course of a nonoperated ASD in adulthood may be
significantly affected by associated cardiovascular disease such as
hypertension, coronary artery disease, and mitral regurgitation.
• Atrial fibrillation or atrial flutter is an age-related reflection of the
atrial stretch, which seldom occurs in those younger than 40 years of
age.
Diagnosis in Adults- Left to right
shunt/ASD
• Symptoms
• • Reduced exercise tolerance, tiredness.
• • Exertional dyspnea.
• • Palpitations (due to supraventricular arrhythmia, frequent atrial
fibrillation/atrial flutter in older age).
• • Atypical chest pain (right ventricular ischemia).
• • Frequent respiratory tract infections.
• • Signs of right-heart failure
Diagnosis in Adults- Left to right
shunt/ASD
• Clinical findings
• The patients are usually pink; cyanosis suggests severe pulmonary hypertension with reversed shunting in
the presence of a secundum ASD or superior sinus venosus defect;
• Cyanosis can also reflect associated pulmonary stenosis, a coronary sinus defect or an inferior sinus
venosus defect (with a prominent Eustachian valve directing the blood to the left atrium).
• Right ventricular heave.
• Ejection systolic murmur with a maximum at the left sternal border (increased blood flow through the
pulmonary artery orifice, relative pulmonary stenosis); sometimes, a pulmonary ejection click can be
heard.
• Wide and fixed split of the second heart sound above the pulmonary artery (delayed pulmonary artery
valve closure); a loud pulmonary component reflects severe pulmonary hypertension.
• Diastolic murmur at the lower left sternal border (increased blood flow through the tricuspid orifice –
relative tricuspid stenosis).
• The clinical findings and auscultation may be completely discrete and unremarkable.
• A pansystolic murmur can be heard in the presence of mitral regurgitation on the apex.
Diagnosis in Adults- Left to right
shunt/ASD
• Chest X-ray
• The cardiac silhouette is enlarged (right atrium and right ventricle).
• A prominent, dilated pulmonary artery, dilated hilar vessels can be
present, and a lifted cardiac apex reflects the presence of right
ventricular dilatation.
• Pulmonary plethora reflects increased pulmonary blood flow (left-to-
right shunt).
• A small aortic knuckle reflects a chronic low systemic blood flow in
the presence of an important left-to-right shunt
Diagnosis in Adults- Left to right
shunt/ASD
• Electrocardiogram (ECG)
• The rhythm can be sinus, atrial flutter or atrial fibrillation (after the age of 40).
• Coronary sinus rhythm reflects the absence of a sinus node and is frequently
seen in the presence of a superior sinus venosus defect.
• A grade 1 atrioventricular block can be found in the presence of a primum
ASD, but it can also be found in older patients with a secundum ASD. Right
atrial overload can be present.
• Right axis deviation and right ventricular hypertrophy reflects right ventricular
volume overload/hypertrophy.
• Incomplete right bundle branch block (shape rSr´ or rsR´ in leads V1–V3) is a
feature of delayed activation of the dilated right ventricle.
Diagnosis in Adults- Left to right
shunt/ASD
• Echocardiography
• Exact assessment of the anatomy of the ASD often requires
transesophageal echocardiography (TEE) in adults, in addition to
transthoracic echocardiography.
• Catheterization
• Catheterization is not required to establish the diagnosis of ASD.
• Magnetic resonance imaging
• Computerized tomographic scanning
Diagnosis in Adults- Left to right
shunt/ASD
• Management of ASD consists in its closure, which may be:
• surgical with suture or a patch,
• or catheter based.
• .Another modern possibility is thoracoscopic robotic surgical closure
Patent foramen ovale
• Anatomical notes
• Patent foramen ovale (PFO) is a relatively frequent variant of
physiological state and a common finding in the general population; it
is not classified as an atrial septal defect (ASD) or heart disease.
• It is an anatomically tunnel-like structure between the upper rim of
the fossa ovalis limb and the fossa ovalis valve, and is the result of the
lack of fusion of the septum primum and septum secundum.
• The length of the tunnel varies, ranging from 3 to 24mm, with a mean
length of 9mm.
Patent foramen ovale
• Prevalence
• In the first months of life, PFO is present in most children.
• In about 70% of cases, it later closes anatomically; in others it is closed
functionally, since the pressure in the left atrium is somewhat higher
compared with the right one.
• In adulthood, anatomical patency of the foramen ovale persists in about 25–
30% of the general population.
• In patients less than 55 years of age with a cerebrovascular event (CVE), and
without risk factors of CVE, the incidence of PFO was higher at 40–54%.
• In younger patients having a CVE, association has been shown with PFO and
also atrial septal aneurysm.
Patent foramen ovale
• Pathophysiology
• PFO plays an important role in fetal circulation, whereby oxygenated blood from umbilical veins and
the vena cava inferior is preferentially directed through the Eustachian valve and PFO to the left atrium
and into systemic circulation.
• PFO in adults does not usually produce a significant shunt. Its potential risk is that it allows paradoxical
embolism into the systemic vascular bed in the presence of venous thrombosis or right atrial
thrombosis or thrombosis directly inside the PFO tunnel or atrial septal aneurysm, in hypercoagulation
state or when using hormonal contraception.
• A right-to-left shunt may be transient or intermittent: it is caused by increased right atrial pressure in
pulmonary embolism or lung disease but, also, in cough, Valsalva maneuver or diving, and it may also
be dependent on change in position.
• The platypnea-orthodeoxia syndrome has been reported in elderly patients who are cyanotic and
dyspneic when sitting – the problems resolve when lying.
• These complaints are explained by a right-to-left shunt in the presence of PFO and a prominent
Eustachian valve, directing blood flow from the vena cava inferior to PFO
Patent foramen ovale
• Signs and symptoms
• Asymptomatic
• Suspected paradoxical embolism in a case of cerebrovascular event
• Platypnea-orthodeoxica syndrome
Patent foramen ovale
• Echography ( TTE and TEE + contrast)
Patent foramen ovale
• Transcranial Doppler echography
• Cardiovascular evaluation/ clinical/ECG /Holter ECG/ Echography/ D Dimers-
Dopplerof the legs +pelvis
• Neurological evaluation/ clinical/Carotid arteries Doppler/CT scan or MRI of the
brain
• Hematological evaluation/Thrombophilic states:The levels of protein C, S,
antithrombin III, presence of anticardiolipin antibodies, activated protein C (APC)
resistance, and homocystein levels are determined in addition to routine
coagulation assays and D-dimer levels.
• Genetic assay/ Intended to search for evidence of factor V (Leiden) mutation
(with APC resistance), prothrombin mutations, MTHFR (methylene
tetrahydrofolate reductase-{homocystein}) mutation or their combination.
Patent foramen ovale
• Management
• Prevention strategies of recurrent CVE/TIA in the presence of a PFO
may include:
• transcatheter or surgical PFO closure
• anticoagulation or antiaggregation (anti -platelet) therapy