Summary about Disease
Truncus arteriosus is a rare congenital heart defect present at birth (congenital). It occurs when a single blood vessel (truncus arteriosus) comes out of the heart's ventricles instead of the normal two vessels (the pulmonary artery and the aorta). There is also typically a ventricular septal defect (VSD), a hole between the two ventricles. This results in mixing of oxygen-poor and oxygen-rich blood, and excess blood flow to the lungs. It requires surgical correction early in life.
Symptoms
Symptoms of truncus arteriosus usually appear in the first few days or weeks of life. They can include:
Cyanosis (bluish tint to the skin, lips, and nails)
Rapid breathing or shortness of breath
Poor feeding
Lethargy or extreme sleepiness
Poor weight gain
Sweating
A fast heartbeat
Congestive heart failure (swelling in the legs, ankles, feet, or abdomen; difficulty breathing)
Causes
The exact cause of truncus arteriosus is usually unknown. It's thought to occur due to errors during fetal heart development. Genetic factors and environmental influences may play a role, but no single specific cause has been identified. It's not considered to be directly caused by anything the mother did or didn't do during pregnancy.
Medicine Used
Medicines are used to manage the symptoms of truncus arteriosus before surgery. These medications include:
Diuretics (water pills): To reduce fluid overload and help the kidneys remove excess fluid. (e.g., Furosemide)
Digoxin: To help the heart pump more forcefully.
Inotropes: Medicines such as dobutamine or milrinone may be used to help the heart contract and improve blood flow.
Prostaglandin E1: In some cases, this medication may be needed to keep the ductus arteriosus open to maintain adequate blood flow until surgery. Note: These medications are temporary solutions and the primary treatment is surgical repair.
Is Communicable
No, truncus arteriosus is not communicable. It is a congenital heart defect and is not caused by an infection or transmitted from person to person.
Precautions
Since truncus arteriosus is a congenital condition, there are no specific precautions to prevent it. However, general recommendations for a healthy pregnancy include:
Taking prenatal vitamins, especially folic acid
Avoiding alcohol, smoking, and illegal drugs
Managing any pre-existing health conditions like diabetes
Getting appropriate prenatal care After surgical repair, precautions focus on preventing endocarditis (infection of the heart lining and valves):
Good dental hygiene
Inform all healthcare providers about the heart condition.
Prophylactic antibiotics before certain dental or surgical procedures (as recommended by the cardiologist).
How long does an outbreak last?
Truncus arteriosus is not an infectious disease, so it does not have outbreaks. It is a congenital condition present from birth.
How is it diagnosed?
Truncus arteriosus can be diagnosed prenatally (before birth) or after birth. Diagnostic methods include:
Fetal echocardiogram: An ultrasound of the fetal heart to look for structural abnormalities.
Echocardiogram (after birth): An ultrasound of the baby's heart to visualize the structure and function.
Electrocardiogram (ECG or EKG): To measure the electrical activity of the heart.
Chest X-ray: To look at the size and shape of the heart and lungs.
Cardiac catheterization: In some cases, this procedure may be necessary to get more detailed information about the heart and blood vessels.
Pulse oximetry: Measures the oxygen saturation in the blood.
Timeline of Symptoms
Prenatal: May be detected during routine prenatal ultrasounds or through fetal echocardiography if risk factors are present.
First few days/weeks of life: Cyanosis, rapid breathing, poor feeding, lethargy, and other symptoms typically manifest.
Without treatment: Symptoms worsen, leading to heart failure, pulmonary hypertension, and ultimately death.
Important Considerations
Early diagnosis and surgical intervention are crucial for survival and improved quality of life.
Lifelong cardiac follow-up is necessary to monitor for complications such as pulmonary hypertension, valve problems, and arrhythmias.
Activity restrictions may be recommended by the cardiologist based on the individual's condition.
Genetic counseling may be considered, although the risk of recurrence in future pregnancies is generally low.
Endocarditis prevention is critical throughout life.
Even after successful surgery, some individuals may have long-term health issues related to their heart condition.