ATRIAL SEPTAL DEFECT
DEFINITION & CLASSIFICATION
DEFINITION:
Atrial septal defect (ASD) is a congenital cardiac malformation characterized by a fixed abnormal
communication between the right and left atria due to incomplete formation of the atrial septum,
resulting in a left-to-right shunt at the atrial level.
CLASSIFICATION OF ASD:
Based on anatomical location and embryological defect:
• Ostium secundum ASD
– Located at the fossa ovalis (mid-septum)
– Most common type
– Amenable to device closure
• Ostium primum ASD
– Located in the lower portion of the atrial septum
– Part of atrioventricular septal (endocardial cushion) defects
– Often associated with cleft mitral valve
• Sinus venosus ASD
– Superior type: near entry of superior vena cava
– Inferior type: near entry of inferior vena cava
– Commonly associated with anomalous pulmonary venous drainage
• Coronary sinus ASD
– Unroofed coronary sinus creating communication between coronary sinus and left atrium
– Rare
EPIDEMIOLOGY & RISK FACTORS
EPIDEMIOLOGY:
• Accounts for approximately 6–8% of all congenital heart diseases
• More common in females
• Ostium secundum ASD constitutes the majority of cases
RISK FACTORS:
• Congenital developmental defect of atrial septation
• May be associated with other congenital cardiac anomalies
• Sinus venosus ASD commonly associated with partial anomalous pulmonary venous return
ETIOLOGY & PATHOPHYSIOLOGY
ETIOLOGY:
• Failure of complete septation of atria during embryogenesis
HEMODYNAMICS & PATHOPHYSIOLOGY:
• After birth, pulmonary vascular resistance falls by 4–6 weeks
• Left atrial pressure exceeds right atrial pressure
• Blood flows from left atrium → right atrium (left-to-right shunt)
Hemodynamic consequences:
• Right ventricle is more compliant than left ventricle
• Large volume shunting occurs even with small pressure gradient
• Increased pulmonary blood flow
• Progressive dilation of:
– Right atrium
– Right ventricle
– Pulmonary arteries
Late changes:
• Pulmonary hypertension develops late
• Shunt reversal (right-to-left) occurs very late in life
• Congestive heart failure is uncommon in early life
NATURAL HISTORY:
• Defect <3 mm
– Nearly 100% spontaneous closure by 1.5 years
• Defect 3–8 mm
– About 80% close spontaneously by 1.5 years
• Defect >8 mm
– Rarely closes spontaneously
• Spontaneous closure is rare after 2 years of age
CLINICAL FEATURES
GENERAL CLINICAL FEATURES:
• Often asymptomatic in childhood
• Symptoms typically appear in adolescence or adulthood
SYMPTOMS:
• Easy fatigability
• Exertional dyspnea
• Recurrent respiratory infections (occasionally in children)
• Palpitations due to atrial arrhythmias
• Platypnea-orthodeoxia
– Dyspnea worsens on standing and improves on lying down
Late symptoms (usually after 40 years):
• Atrial fibrillation
• Heart failure
• Stroke due to paradoxical embolism
SIGNS:
Pulse
• No respiratory variation
• Irregularly irregular pulse if atrial fibrillation present
Jugular venous pulse
• a and v waves of equal height
• Prominent a wave with pulmonary hypertension or associated mitral stenosis
Precordium
• Parasternal heave due to right ventricular enlargement
• Systolic pulsations in left 2nd and 3rd intercostal spaces
AUSCULTATORY FINDINGS:
• Wide fixed split S2
– Wide due to prolonged RV ejection time and increased pulmonary hangout interval
– Fixed because atrial pressures equalize during respiration
• Ejection systolic murmur
– Best heard at left 3rd–4th intercostal space, parasternal
– Due to increased flow across pulmonary valve, not flow through ASD
• Additional murmurs
– Short mid-diastolic rumble at tricuspid area in large shunts
INVESTIGATIONS & DIAGNOSIS
ELECTROCARDIOGRAM:
• Incomplete right bundle branch block
• Right axis deviation
• Ostium primum ASD may show left axis deviation
• PR prolongation may be present
CHEST X-RAY:
• Cardiomegaly due to RA and RV enlargement
• Prominent pulmonary arteries
• Pulmonary plethora
• “Jug-handle” appearance of pulmonary artery
• RV apex elevation
• Hilar dance on fluoroscopy (characteristic)
ECHOCARDIOGRAPHY:
• Investigation of choice
• Confirms:
– Type of ASD
– Size of defect
– Direction and magnitude of shunt
– Associated cardiac anomalies
• Color Doppler:
– Demonstrates left-to-right shunt
– Allows calculation of Qp:Qs ratio
• Transesophageal echocardiography:
– Used during device closure
CARDIAC MRI / CT:
• Useful for:
– Defining anatomy
– Detecting anomalous pulmonary venous drainage
• MRI advantages:
– Quantifies right ventricular size, volume, and function
CARDIAC CATHETERIZATION:
• Pressure gradient between atria usually <3 mm Hg
• Reserved for complex or equivocal cases