ATRIAL
SEPTAL
DEFECT
- DR BHARATH TEJA
- SR CARDIOLOGY
EMBRYOLOGY
• During the 4th or 5th week of development, the common atria starts to divide
into two distinct chambers by formation of primary atrial septum.
• Initially a groove is visible on outer surface of common atrium dividing into left
and right halves.
• Inner surface of the grove is covered by cardiac jelly, which becomes populated
by mesenchymal cells derived from the covering endocardial cells by
endothelial to mesenchymal transformation.
• This mesenchyme activates cellular proliferation and leads to formation of thin
falciform myocardial sheet.
EMBRYOLOGY
• Extension of falciform myocardial
sheet towards endocardial cushion.
• The first septum is called septum
primum
• And the opening left between
septum primum and endocardial
cushion is called ostium primum.
•
• By 33 days(5and 6th week of life)
tissue resorption occurs at the
superior part of septum primum
while the ostium primum closes.
• This second ostium is called ostium
secundum.
• Concurrently and anterosuperior
infolding of atrial roof develops to the
right of the septum primum, called
septum secundum.
• Septum secundum is concave in
shape with superior and inferior
limbs.
• Inferior limb fuses with the
lowermost part of the atrial septum
to join the endocardial cushion.
• The thick muscular ridge of the
superior limb forms an incomplete
partition that overlies the ostium
secundum resulting in an opening
called foramen ovale.
• The septum secundum thus forms
the concave shaped superior margin
of fossa ovalis
INCIDENCE
• ASD constitute 8% to 10% of congenital heart defects n
children.
• Incidence is estimated as 56 per 100000 live births
• ASD is second most prevalent lesion overall
• Female to male ratio is 2:1
GENETICS
• Risk of congenital heart disease in offspring of a
woman with a sporadic ASD is estimated to be 8% to
10%.
• Mutations in transcription factors such as:
• NKX2.5/CSX
• TBX5
• HOLT-ORAM SYNDROME
• GATA6
• TBX20
ENVIRONMENTAL FACTORS
• RETINOIDS
• NSAIDS – INDOMETHACIN
• ANTICONVULSANTS – TRIMETHADIONE, VALPROIC ACID
• THALIDOMIDE
• SMOKING
• ANTIHYPERTENSIVES – ACE INHIBITORS
• ALCOHOL
SYNDROMES ASSOCIATED WITH ASD
• DOWN SYNDROME
• NOONAN SYNDROME
• HOLT – ORAM SYNDROME
• FETAL ALCOHOL SYNDROME
• KLINEFELTAR SYNDROME
TYPES
• SECUNDUM ASD
• PRIMUM ASD
• SINUS VENOSUS ASD
• CORONARY SINUS ASD
SECUNDUM
ASD
• Ostium secundum
defects results from
• Shortening of
valve of foramen
ovale
• Excessive
resorption of the
septum primum
• Deficient growth
of septum
secundum
• Defects are located
superiorly at fossa
ovalis.
Secundum ASD are associated with:
• Holt-Oram syndrome
• Partial anomalous pulmonary venous connection
• Pulmonary valvular stenosis
• Persistent superior vena cava
• Mitral valve prolapse and insufficiency
• Pulmonary artery branch stenosis
• Located in the lower portion of atrial spetum
OSTIUM PRIMUM and overlies mitral and tricuspid valves.
Primum ASD are associated with
• Clefts in anterior mitral and septal tricuspid leaflets
• Small VSD
Sinus venosus ASD
• These constitute only 2% to 3% of interatrial
communications.
• Superior vena caval sinus venosus ASD are located
immediately below the junction of the superior vena cava
and the right atrium.
• Inferior vena caval ASD are located below the foramen ovale
and merge with the floor of inferior vena cava.
• Superior vena caval ASD are commonly associated with
anomalous drainage of right pulmonary vein into RA.
• Inferior vena caval ASD are associated with drainage of right
lung into IVC. Aka SCMITAR SYNDROME.
Coronary sinus ASD
• Coronary sinus ASD is located at the site normally occupied
by right atrial ostium of coronary sinus.
• It is characterized by an opening in the wall of the distal end
of sinus or by unroofing of coronary sinus caused by
absence of partition between coronary sinus and left atrium.
CLASSIFICATION
• Unroofed coronary sinus is classified into 4 types:
• Type I : completely unroofed coronary sinus with persistent left
sided superior vena cava.
• Type II : completely unroofed coronary sinus without persistent left
sided superior vena cava.
• Type III : partially unroofed mid portion
• Type IV : partially unroofed terminal portion
PATHOPHYSIOLOGY
• During fetal life:
• Majority of blood flows into left atrium via foramen ovale due to minimal
flow to lungs.
• After birth:
• Lungs expand, pulmonary blood flow increases.
• Increased pulmonary venous return to left atrium.
• Left atrial pressure exceeds right atrial pressure.
• Functional closure of foramen ovale occurs.
• Intrauterine physiology is not altered in the presence of an ASD, but unlike the
PFO, the ASD does not close with the hemodynamic changes that occur
following birth.
Cont..
• Physiologic consequence of ASD depend upon:
• Size of the shunt
• Magnitude and duration of shunt
• Its interaction with pulmonary vascular bed
• The primary determinant of magnitude and direction of
the shunt is the relative compliance of ventricles.
• During the neonatal transition, as pulmonary vascular
resistance drops and the right ventricular wall becomes
thinner and more compliant than the left ventricle, left-
to-right shunting increases.
Cont..
• Maximum left-to-right shunting occurs during diastole when all four
cardiac chambers are in communication. Atrial contraction further
augments this shunt.
• A small right-to-left shunt, predominantly from IVC blood can occur
during early diastole or during onset of systole.
• Shunting variation with respiratory cycle:
• Inspiration (decreased intrathoracic pressure):
• Decrease in left-to-right shunt across ASD.
• Expiration (increased intrathoracic pressure):
• Increase in left-to-right shunt across ASD.
Moderate to large left to right shunts across ASD
Volume overload and dilatation of RA and RV
Dilatation of tricuspid and pulmonary annuli
Increase in flow to lungs
Dilatation of the pulmonary arteries, capillaries and
the veins
Flow related pulmonary artery hypertension
Medial hypertrophy of pulmonary arteries and
muscularization of arterioles resulting in pulmonary vascular
obstructive disease
Reversal of shunt direction
EISENMENGER SYNDROME
Cont..
• Volume-overloaded right ventricle causes left ventricular diastolic
configuration alteration with septal bowing leftward, leading to abnormal
interventricular interactions, reduced left ventricular filling and
compliance, and ultimately decreased systemic cardiac output.
• Left ventricular systolic dysfunction can develop as a late complication of
large ASDs.
• Occasionally, the abnormal left ventricular geometry may result in
prolapse of the mitral valve or superior systolic motion of the mitral leaflet
CLINICAL PRESENTATION
• Most of the cases are asymptomatic.
• Infants present with
• Features of pulmonary overcirculation
• Recurrent Respiratory infections
• Failure to thrive
• Older children present with
• Mild fatigue
• Dyspnoea
• In adults, worsening of clinical condition has been attributed to various factors
such as a decrease in left ventricular compliance secondary to coronary artery
disease and hypertension,
PHYSICAL EXAMINATION
• Inspection:
• Left precordial bulge
• Palpation:
• Prominent right ventricle impulse
• Auscultation:
• Wide, fixed splitting of S2.
• Ejection systolic murmur – due to increased flow across the pulmonary
valve
• Mid diastolic murmur – tricuspid area in large shunt causing excessive flow
across the tricuspid valve.
PHYSICAL EXAMINATION
• Pulmonary hypertension and right to left shunt.
• Inspection:
• Cyanosis
• JVP – prominent A wave
• Auscultation:
• S4
• Loud P2
• Early diastolic murmur – Graham Steell murmur
ECG
• With signifact left to right shunt- rSR’ pattern in right precordial leads.
• Slight prolongation of QRS with slurring of terminal R’.
• Complete RBBB is seen more commonly in adults.
• RAD
• Tall P waves
• With advent of pulmonary hypertension: rSR’ pattern in right precordial is
replaced by Q waves and tall monophasic R waves with deeply inverted T
waves.
ECG
• Sinus venosus ASD:
• Frontal p wave axis of <30 degrees is seen.
• Ostium primum ASD:
• Counterclockwise loop and left axis deviation
• Crochetage sign:
• R wave notching in inferior leads.
Chest X-ray
• Plaeonaemia – pulmonary plethora:
• Enlarged pulmonary vessels throughout the lungs
• Vessels visible to the periphery of the lung
• Cardiomegaly
• Secondary to pulmonary hypertension
• Dilated proximal pulmonary arteries
• Peripheral (artery) pruning
• Right ventricular hypertrophy – upturned apex, broad area of
sternal contact on lateral view
• Left atrial dilatation ( if associated with mitral incompetence)
PLETHORA
• Prominent pulmonary vasculature
• Pulmonary vessels are dilated and
tortuous extending farther into the
peripheral one-thirds of the lungs
• Diameter of a pulmonary artery is
greater than the accompanying
bronchus
• Increased size and number of hilar
pulmonary arteries
• >3-5 end-on should be seen
• Diameter of the right descending
pulmonary artery is bigger than
the diameter of the trachea
• Cardiomegaly may be present
Atrial septal aneurysm
• ASA is a saccular deformity of the atrial septum.
• Prevalence: 0.22% to 1.9%.
• In most cases the aneurysm is limited to the region
of the fossa ovalis, it occasionally can involve the
entire septum.
• ASA may protrude into the left or the RA or have a
bidirectional excursion.
• Diagnostic criteria:
• Protrusion of the aneurysm at least 15 mm
beyond the plane of the atrial septum or when
the atrial septum shows a phasic excursion of
≥15 mm during the cardiorespiratory cycle.
• The base amplitude (width) of the aneurysm ≥15
mm.
Cont..
• ASA is most associated with ASD, other lesions include:
• VSD
• Pulmonary stenosis
• Patent ductus arteriosus
• Corctation
• Interrupted aortic arch
• AV valve prolapse
• Atrial arrhythmias
Patent Foramen Ovale
It is present in upto 24% of healthy adults.
Most of the cases are asymptomatic and diagnosed incidently.
Associated clinical syndromes include:
• Cryptogenic stroke
• Migraine headache
• Decompression sickness
• Air embolism in divers
• Platypnea-orthodeoxia syndrome
• Noncerebral paradoxical embolism
Thank you