Causes
The main cause of interrupted aortic arch (IAA) is a discontinuity in the aorta.
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Mutations: Associated with genetic syndromes such as DiGeorge syndrome.
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Abnormal development of the aorta during fetal development.
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The condition can also be caused by certain chromosomal abnormalities.
Symptoms
Interrupted aortic arch symptoms typically appear soon after birth and include:
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Poor oxygenation of the skin causes cyanosis.
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Attempts by the body to compensate for reduced oxygen delivery by increasing respiratory rate.
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Infants with poor feeding skills and poor weight gain.
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Fatigue and lethargy are signs of lethargy.
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During a physical examination, a heart murmur is detected.
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Fluid accumulation, swelling, and shortness of breath are symptoms of congestive heart failure.
Diagnosis
There are several steps involved in diagnosing interrupted aortic arch:
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An initial physical examination includes checking for cyanosis, heart murmurs, and overall health.
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An echocardiogram is an ultrasound scan of the heart to visualize its structure and identify any interruptions.
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X-ray of the chest: To assess the size of the heart and the amount of congestion in the lungs.
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An electrocardiogram (ECG) measures electrical activity and identifies abnormal rhythms.
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A cardiac MRI provides detailed images of the heart and aorta.
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A cardiac catheterization is an invasive procedure used to measure blood pressure and oxygen levels in the heart and blood vessels.
Treatment
Interrupted aortic arch is typically treated surgically to restore normal blood flow:
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Aortic repair involves connecting the interrupted segments of the aorta, which may require a single surgery or a series of surgeries.
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Prostaglandin E1 may be used to open the ductus arteriosus before surgery in order to manage heart function and symptoms.
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Monitor your heart function and detect any complications early with regular follow-up appointments.
Prevention
As a congenital condition, interrupted aortic arch cannot be prevented. However, certain measures can assist in early detection and management:
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Family genetic counseling can provide information on risks and testing options for families with a history of congenital heart defects.
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Regular prenatal check-ups and ultrasounds can help detect congenital heart defects early.
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A healthy pregnancy includes proper nutrition, avoiding harmful substances, and managing chronic conditions.
Conclusion
This congenital heart defect requires prompt diagnosis and surgery. Infants can significantly improve their outcomes when they understand the causes, recognize the symptoms early, and seek appropriate treatment. It is not possible to prevent the condition itself, but early detection through prenatal care and genetic counseling can help manage and prepare for necessary medical interventions. For those with repaired interrupted aortic arches, regular follow-up and lifelong cardiac care are essential.