Here are the essential aspects of atrioventricular septal defect (AVSD), which is a congenital heart defect characterized by an abnormal opening in the septum between the atria and ventricles of the heart.
It is unknown exactly what causes atrioventricular septal defects, but they are believed to be caused by abnormal development of the fetus' heart during pregnancy. Some individuals are at higher risk for AVSD because of genetic, environmental, or maternal factors such as diabetes or certain medications. AVSD can occur alone or in conjunction with other congenital heart defects or genetic syndromes like Down syndrome.
Atrioventricular septal defects may cause a variety of symptoms depending on their size and severity. Common symptoms include:
A cyanotic heart defect results in bluish discoloration of the skin, lips, or nail beds.
Auscultation of the chest may reveal abnormal heart sounds, such as a systolic or diastolic murmur.
A newborn or infant with significant heart failure may experience rapid breathing (tachypnea), shortness of breath (dyspnea), and respiratory distress.
Infants with severe AVSD and congestive heart failure may have difficulty feeding, fail to thrive, or gain inadequate weight.
Respiratory infections recur due to pulmonary congestion and impaired cardiac function, such as pneumonia or bronchitis.
Atrioventricular septal defects are diagnosed through clinical evaluation, imaging studies, and cardiac investigations.
AVSD is diagnosed using transthoracic echocardiography (TTE) or transesophageal echocardiography (TEE), which visualizes the structural abnormalities as well as assessing the size and location of the defect.
The electrocardiogram (ECG) may show nonspecific changes, such as atrial or ventricular hypertrophy, conduction abnormalities, or arrhythmias associated with AVSD.
An X-ray of the chest may reveal signs of cardiomegaly (enlarged heart), pulmonary congestion, or increased pulmonary vascularity in individuals with significant AVSD.
There are several treatment options for atrioventricular septal defects, depending on their severity, associated cardiac abnormalities, and the presence of symptoms.
If the patient is asymptomatic or has mild AVSD, medical management may focus on monitoring for signs of heart failure, providing supportive care, and optimizing cardiac function with medications such as diuretics, angiotensin-converting enzyme inhibitors, or digoxin.
Surgical repair: Atrioventricular septal defects are typically repaired surgically during childhood or infancy to close the abnormal opening in the septum and reconstruct the atrioventricular valves. Depending on the size and location of the defect, as well as the associated cardiac anomalies, surgical techniques may be different.
In select patients with smaller defects or favorable anatomy, transcatheter techniques such as balloon valvuloplasty and device closure may be an alternative to surgical repair.
Atrioventricular septal defects can be prevented by early prenatal care, maternal counseling, and congenital heart defect screening. Individuals with a family history of AVSD or other genetic syndromes associated with congenital heart defects, such as Down syndrome, may benefit from genetic counseling. AVSD and other birth defects may be reduced by avoiding teratogenic factors such as alcohol, tobacco, certain medications, and environmental toxins during pregnancy.
An atrioventricular septal defect is characterized by an abnormal opening between the atria and ventricles of the heart as a congenital heart defect. For individuals with AVSD to optimize outcomes and improve quality of life, early diagnosis, timely intervention, and appropriate management are essential. Consult a pediatrician or pediatric cardiologist if you suspect your child may have an atrioventricular septal defect or have concerns about congenital heart defects.
