Congenital heart defects such as truncus arteriosus occur when a single large blood vessel (truncus arteriosus) emerges from the heart instead of the usual two separate vessels (aorta and pulmonary artery). Here's an overview of how it is diagnosed, treated, and prevented.
The exact cause of truncus arteriosus is unknown, but genetic and environmental factors may play a role. The heart and blood vessels do not form properly during fetal development. There is an increased risk of truncus arteriosus in people with certain genetic syndromes, including DiGeorge syndrome and Down syndrome.
A truncus arteriosus may present with the following symptoms:
Low oxygen levels in the blood cause a bluish tint to the skin, lips, and nail beds.
An infant with heart-related issues may have difficulty feeding or gain inadequate weight.
During feeding or exertion, rapid breathing may occur.
In infants, fatigue refers to excessive tiredness or lethargy during feeding or activity.
Physical examinations may detect abnormal heart sounds, such as a murmur.
Truncus arteriosus is diagnosed by:
In a physical examination, a healthcare provider may detect abnormal heart sounds, cyanosis, or other signs of congenital heart defects.
Tests that visualize the heart and blood vessels and assess the anatomy and function of the heart include echocardiography, ultrasound, and MRI scans.
ECG: An electrocardiogram measures the electrical activity of the heart and detects any irregularities.
Catheterization of the heart and blood vessels is an invasive procedure used to assess the structure and function of the heart and blood vessels.
Among the treatment options for truncus arteriosus are:
An operation is usually required to correct the defect and separate the truncus arteriosus into two separate vessels (aorta and pulmonary artery).
A doctor may prescribe medication to help manage symptoms, improve heart function, and prevent complications, such as congestive heart failure.
Following a heart-healthy lifestyle, including regular exercise, a balanced diet, and avoiding smoking, can support recovery after surgery and overall heart health.
The following steps can be taken to prevent truncus arteriosus:
Early and regular prenatal care, including prenatal screenings and ultrasounds, can help detect congenital heart defects, including truncus arteriosus.
A reduction in the risk of truncus arteriosus may be achieved by reducing exposure to known risk factors, such as smoking, alcohol, certain medications, and environmental toxins, during pregnancy.
To assess their risk and explore reproductive options, couples with a family history of congenital heart defects or genetic syndromes associated with truncus arteriosus may benefit from genetic counseling.
