Download Congenital Heart Disease in the Adult

CONGENITAL HEART
DISEASE IN THE ADULT
Maryam. Moradian
pediatric cardiologist
RAJAIE HEART CENTER
Introduction:
-Congenital heart disease (CHD)
complicates 0.8% of all live births
in the general population .(not
including BAV, MVP)
-Substantial numbers of affected
infants and children, estimated at
>85% currently, reach adulthood.
Etiology:
• Sporadically (most cases, without a known specific
cause)
• Multifactorial : genetic and environmental causes
• Down, Turner, trisomy 13, 18, Hurler’s syndrome,
homocystinuria, or type ІІ glycogen storage
disease….
• Increased incidence in children of patients with
CHD (mothers>fathers)
• In most cases, the nature of parent’s defect does
not predict the lesion in affected offspring
Williams syndrome:
Pathophysiology:
• The anatomic and physiologic
changes in the heart and
circulation due to any specific
CHD lesion are not static but,
rather, progress from prenatal life
to adulthood.
Fetal circulation
• DV
• FO
• DA
BAV-------> thicken, calcify… with
time------>AS
ASD-------->PH after 4 th to 5 th
decade
The size and nature of defect determine
the onset of symptoms
• Small ASD…..may go undetected
• Small muscular VSD…may resolve spontaneously
• DTGA…shortly after birth
• ..
Acyanotic Congenital Heart Disease with
a Left-to-Right Shunt
• Atrial Septal Defect
• Ventricular Septal Defect
• Patent Ductus Arteriosus
• …..
Septal Defects: ASD
• 10%-17% of CHD
• More frequently in females (60%)
• ostium secundum type (The most
common) (60%)
• ostium primum type(20%)(AVSD,
MV cleft)
• sinus venosus type (PAPVC)
ASD Location:
Patent Foramen Ovale
• Anatomic obliteration of the
foramen ovale ordinarily follows its
functional closure soon after birth,
but residual "probe patency" is a
normal variant
• The magnitude of the left-to-right
shunt depends on:
1-the atrial septal defect size,
2-ventricular diastolic properties,
3-relative impedance in the
pulmonary and systemic
circulations.
• Patients with atrial septal defect are
usually asymptomatic in early life,
although there may be some physical
underdevelopment and an increased
tendency for respiratory infections;.
Physical Examination:
• Parasternal RV impulse
• Increased flow across the pulmonic
valve is responsible for a midsystolic
pulmonary outflow murmur.
(EJECTION MURMUR)
• The second heart sound is widely split
and is relatively fixed in relation to
respiration.
cardiorespiratory symptoms occur
in many older patients including :
atrial arrhythmias,
pulmonary arterial hypertension,
L↔R & R→L shunt,
cardiac failure.
Electrocardiogram (ECG):
right-axis deviation
rSr' pattern in the right precordial leads (RBBB)
ectopic atrial pacemaker
first-degree heart block
left superior axis deviation(ASD primum)
Electrocardiogram (ECG):
With PAH:
RVH
CXR
RA enlargement
RV enlargement
PA dilation
Increased pulmonary vascular
marking
Echocardiogram:
• TTE : PA,RA,RV enlargement
• TEE : is indicated if the
transthoracic echocardiogram is
ambiguous, which is often the
case with sinus venosus defects,
or during catheter device closure
catheterization
• Cardiac catheterization is
performed if :
inconsistencies exist in the
clinical data,
if significant pulmonary
hypertension is suspected,
catheterization
associated malformations are
suspected,
or if coronary artery disease is a
possibility.
Atrial Septal Defect: Treatment:
• closure or repair (<25 yr)
• percutaneous transcatheter device
closure for appropriate size and
shape ASD secundum
• IE: risk of IE is quite low
Echocardiography finding
Ventricular Septal Defect :
• Defects of the ventricular septum
are common as isolated defects or
as a component of a combination
of anomalies.
• 1 in 500 normal birth
• 50% of VSDs close spontaneously
during childhood
VSD:
Types
• Type 1, supracristal, beneath the aortic annulus AI
• Type2,perimembranous, most common,80%, in
membranous portion of septum
• Type3,involve the atrioventricular canal,MV & TV
abnormality ,ASD primum , Down syndrome
• Type4, muscular VSD,close spontaneously if small
• A wide spectrum exists in the
natural history of ventricular septal
defect, ranging from spontaneous
closure to congestive cardiac
failure and death in early infancy.
• Spontaneous closure is more
common in patients born with a
small ventricular septal defect and
occurs in early childhood in most
patients
• Patients with large ventricular
septal defects and pulmonary
hypertension are those at greatest
risk for developing PVOD
• PVOD(Eisenmenger syndrome),
symptoms consist of exertional
dyspnea, chest pain, syncope, and
hemoptysis. The right-to-left shunt
leads to cyanosis, clubbing, and
erythrocytosis.
• RV outflow tract obstruction
develops in ~5–10% of patients
who present in infancy with a
moderate to large left-to-right
shunt.
• In ~5% of patients, aortic valve
regurgitation results from
insufficient cusp tissue or prolapse
of the cusp through the
interventricular defect.
Physical findings
• Hyperdynamic precordium
• Holosystolic left parasternal murmur ± thrill
• ECG …..LVH RVH
• CXR….cardiomegaly prominent pulmonary vasculature
• Two-dimensional
echocardiography : number &
location of VSD s…
• Hemodynamic and angiographic
study: to assess the status of
pulmonary vascular bed….
CXR VSD:
VSD:
Ventricular Septal Defect: Treatment:
• Surgery is not recommended for
patients with normal pulmonary
arterial pressures with small
shunts (pulmonary-to-systemic
flow ratios of <1.5 to 2.0:1.0).
• Operative correction or
transcatheter closure is indicated
when there is a moderate to large
left-to-right shunt with a
pulmonary-to-systemic flow ratio
>1.5:1.0 or 2.0:1.0, in the absence
of prohibitively high levels of
pulmonary vascular resistance.
Patent Ductus Arteriosus:
• The ductus arteriosus is a vessel
leading from bifurcation of PA to
aorta just distal to left subclavian
artery.
• Normally, the vascular channel is
open in the fetus but closes
immediately after birth.
Patent Ductus Arteriosus:
• Physical exam : continuous
"machinery" murmur at the upper
left sternal edge.
• Pulmonary hypertension, right-toleft shunting, ( Eisenmenger
syndrome) : cyanosis
(differential cyanosis)
• LVH in EKG
• Prominent PA, LAE, LVE in CXR
• The leading causes of death in
adults with PDA:
-cardiac failure
-infective endocarditis
-occasionally severe pulmonary
vascular obstruction may cause
aneurysmal dilatation, calcification,
and rupture of the ductus.
Patent Ductus Arteriosus: Treatment:
• patent ductus should be surgically
ligated or divided.
• Transcatheter closure using coils,
buttons, plugs, and umbrellas has
become commonplace for
appropriately shaped defects.
• Thoracoscopic surgical
approaches are considered
experimental.
• Operation should be deferred for
several months in patients treated
successfully for infective
endocarditis because the ductus
may remain somewhat edematous
and friable.
VALVULAR DEFECTS
• LVOTO:
Valvular Aortic Stenosis
(most often secondary toBAV)
Subaortic Stenosis
Supravalvular Aortic Stenosis
Valvular Aortic Stenosis:
• Bicuspid aortic valves are more common in
males than in females.
• 2% of the population
• Associated abnormalities ~20% COA, PDA
• Diagnosis is best made by
echocardiography, which can reveal the
morphology of the aortic valve and aortic
root and quantitate the degree of stenosis
or regurgitation
Symptoms
• 5th , 6th decade
• AS chest pain
• Syncope
• CHF
• Aneurismal dilation of thoracic aorta, dissection
• Sudden death
• IE
• AI
Physical examination
• Ejection systolic murmur
• Click
• Diastolic murmur (AI)
Valvular Aortic Stenosis: Treatment
• prophylaxis against infective
endocarditis and, digoxin and
diuretics and sodium restriction
while awaiting operation. A dilated
aortic root may require beta
blockers.
• severe aortic stenosis :
strenuous physical activity should
be avoided even when the patient
is asymptomatic
• Aortic valve replacement is indicated
in adults with critical obstruction, i.e.,
with an aortic valve area <0.45
cm2/m2,
• In asymptomatic children or
adolescents or young adults with
critical aortic stenosis without valvular
calcification or these features, aortic
balloon valvuloplasty is often useful
Subaortic Stenosis:
• The discrete form of subaortic
stenosis consists of a
membranous diaphragm or
fibromuscular ring encircling the
LVOT just beneath the base of the
aortic valve.
Supravalvular Aortic Stenosis
(SVAS)
• This anomaly consists of a
localized or diffuse narrowing of
the ascending aorta Just above
the level of the coronary arteries at
the superior margin of the sinuses
of Valsalva.
• In contrast to other forms of aortic
stenosis, the coronary arteries are
subjected to elevated systolic
pressures from the left
ventricle,are often dilated and
tortuous, and are susceptible to
premature atherosclerosis
• In most patients, a genetic defect
for the anomaly is located in the
same chromosomal region as
elastin on chromosome 7.
Pulmonary valve s tenosis
• Obstruction to RV outflow may be
localized to the supravalvular,
valvular, or subvalvular levels
• Valvular pulmonic stenosis is the
most common
• Patients with mild pulmonic
stenosis are generally
asymptomatic
• Symptoms vary with the degree of
obstruction. Fatigue, dyspnea, RV
failure, and syncope
• In mild cases (PPG<30 mmHg, the
ECG is normal, whereas
moderate(PPG> 50 mmHg) and
severe stenosis are associated with
RV hypertrophy.
• The chest x-ray with mild or moderate
pulmonic stenosis shows a heart of
normal size with normal lung
vascularity.
Pulmonary Stenosis: Treatment
• The cardiac catheter technique of
balloon valvuloplasty
• surgically
Coarctation of the Aorta:
• Narrowing or constriction of the
lumen of the aorta may occur
anywhere along its length but is
most common distal to the origin
of left subclacian artery near the
insertion of the ligamentum
arteriosum
• Coarctation occurs in 5%-8% of
patients with congenital heart disease,
• More common in males than females
• 25%-50% have BAV
• Most common extracardiac anomaly:
aneurysm of Willis circle
• Clinical manifestations depend on
the site and extent of obstruction
and the presence of associated
cardiac anomalies, most
commonly a bicuspid aortic valve.
• Circle of Willis aneurysms may
occur in up to 10% and pose a
high risk of sudden rupture and
death.
• Most children and young adults
are asymptomatic.
• Headache, epistaxis, cold
extremities, and claudication with
exercise may occur, hypertension
in the upper extremities and
absence pulsations in the femoral
arteries
• The chief hazards of proximal aortic
severe hypertension include
cerebral aneurysms
hemorrhage,
aortic dissection and rupture,
premature coronary arteriosclerosis,
LV failure
infective endarteritis
CXR
• Indentation of the aorta at the site
of coarctation and pre- and
poststenotic dilatation (the "3"
sign) along the left
paramediastinal shadow are
almost pathognomonic.
• Notching of the 3rd to 9th ribs, an
important radiographic sign, is due
to inferior rib erosion by dilated
collateral vessels
• Two-dimensional
echocardiography
• Transesophageal
echocardiography and MRI
• cardiac catheterization is indicated
primarily to evaluate the coronary
arteries or to perform catheter
based intervention (angioplasty
and stent of the coarctation).
Coarctation of the Aorta:
Treatment
• Treatment is usually surgical,
although percutaneous catheter
balloon with stent dilatation is now
an option
Complex Congenital Heart Lesions
• Tetralogy of Fallot
• Complete Transposition of the Great Arteries
• Single Ventricle
• Tricuspid Atresia
• Ebstein Anomaly
• Congenitally Corrected Transposition
• Malpositions of the Heart
Tetralogy of Fallot:
• The four components of the
tetralogy of Fallot
1- malaligned ventricular septal
defect,
2- obstruction to RV outflow,
3- aortic override of the ventricular
septal defect
4- RV hypertrophy
TOF Anatomy:
• A right-sided aortic arch and
descending thoracic aorta occur in
~25% of patients with tetralogy.
• Severe cyanosis and
erythrocytosis occur, and
symptoms of systemic hypoxemia
are prominent.
Clubbing:
• The ECG shows RV hypertrophy.
• Chest x-ray shows a normal-sized,
boot-shaped heart (coeur en
sabot) with a prominent right
ventricle and a concavity in the
region of the pulmonary conus.
boot-shaped
(coeur en sabot)
• Pulmonary vascular markings are
typically diminished, and the aortic
arch and knob
may be on the right side.
• Two-dimensional echocardiography
• Classic contrast angiography
• MR or CT angiography with 3dimensional reconstruction.
Complete Transposition of the Great
Arteries:
• The aorta arises from the right
ventricle, and the pulmonary artery
emerges from the left ventricle,
which results in two separate
parallel circulations
D-TGA
• 90% mortality in first
year without correction
• VSD
• LVOTO
• COA
• Transposition is more common in
males and accounts for 5%-7% of
cyanotic heart disease.
• Senning
• Mustard
• Arterial switch
Ebstein Anomaly:
• Characterized by a downward
displacement of the tricuspid valve
into the right ventricle
• The abnormally situated tricuspid
orifice produces an "atrialized"
portion of the right ventricle
• (1) progressive cyanosis from right-to-left
atrial shunting,
• (2) symptoms due to tricuspid regurgitation
and RV dysfunction,
• (3) paroxysmal atrial tachyarrhythmias with
or without atrioventricular bypass tracts
("WPW" syndrome).
• Diagnostic findings by echocardiography
Congenitally Corrected
Transposition:
• Transposition of the ascending
aorta and pulmonary trunk and
inversion of the ventricles.
• Progressive RV dysfunction and
tricuspid regurgitation
• Ebstein-type anomalies of the left-
side tricuspid atrioventricular valve
are common.
• Ventricular septal defect or
"pulmonary stenosis" due to
obstruction to outflow from the
right-sided subpulmonary
(anatomic left) ventricle may
coexist.
• Complete heart block occurs at a
rate of 2–10% per decade.
• VSD
• PS
• CHB
• Ebstein
• Progressive RV
dysfunction
Fontan operation,SV
• TA
• DOLV
• Large AVSD
Fontan
operation
Optimize
pulmonary blood
flow without
volume loading
the ventricle
Complications
• Thrombosis
• Obstruction
• Leaks
• Ventricular dysfunction
• Arrhythmias
• Hepatic dysfunction
• Protein losing enteropathy
Eisenmenger syndrome
• The term Eisenmenger syndrome is applied to patients
with a large communication between the two circulations
at the aortopulmonary, ventricular, or atrial levels and
bidirectional or predominantly right-to-left shunts because
of high-resistance and obstructive pulmonary
hypertension.
• VSD PDA
ASD
Adult
3rd
Hyperviscosity
syndrome
Chronic hypoxemia ……
erythrocytosis due to
increased erythropoietin
production .
Headache
Altered mentation
• Excessive phlebotomy can lead to iron deficiency
• Iron depletion results in a larger number of smaller
(microcytic) hypochromic red cells that are less capable of
carrying oxygen
• As such, iron depleted erythrocytosis ------> increasing
symptoms
• Hemostasis is abnormal in cyanotic CHD…. abnormalities
in platelet function & coagulation system
Pregnancy:
• Strongly discouraged
• OCP aggravate thrombosis