Summary about Disease
Single ventricle defect is a congenital heart defect where a baby is born with only one functioning ventricle (pumping chamber) in the heart, instead of two. This means the single ventricle must pump blood to both the lungs and the body, resulting in mixed oxygen-poor and oxygen-rich blood being circulated. This places extra strain on the heart and can lead to various complications. Survival depends on surgical interventions.
Symptoms
Symptoms can vary in severity but typically include:
Cyanosis (bluish tint to the skin, lips, and nails due to low oxygen levels)
Rapid breathing or shortness of breath
Poor feeding
Poor weight gain
Lethargy or fatigue
Cold or clammy skin
Swelling in the legs, ankles, and feet (edema) in older children
Heart murmur
Causes
Single ventricle defects are caused by abnormalities during fetal heart development. Specific causes are often unknown, but they can be associated with:
Genetic factors (chromosomal abnormalities or gene mutations)
Exposure to certain medications or toxins during pregnancy
Maternal illnesses such as diabetes or rubella during pregnancy
In some cases, the cause is unknown (idiopathic).
Medicine Used
Medications are used to manage symptoms and support heart function before and after surgeries. Common medications include:
Prostaglandin E1 (PGE1): Used to keep the ductus arteriosus open in newborns to maintain blood flow.
Diuretics: To reduce fluid buildup in the lungs and body.
Digoxin: To help the heart pump more efficiently.
ACE inhibitors: To lower blood pressure and reduce strain on the heart.
Beta-blockers: To slow the heart rate and lower blood pressure.
Anticoagulants (e.g., aspirin or warfarin): To prevent blood clots.
Is Communicable
No, single ventricle defect is not communicable. It is a congenital heart defect present at birth and is not caused by an infection or contagious agent.
Precautions
Precautions for individuals with single ventricle defects include:
Following the cardiologist's recommendations for medications and checkups.
Maintaining good hygiene to prevent infections (which can be especially dangerous).
Receiving recommended vaccinations (including the flu vaccine).
Avoiding strenuous activities that could overstress the heart, as advised by the cardiologist.
Monitoring for signs of heart failure or other complications.
Prophylactic antibiotics before dental procedures (as recommended by the cardiologist) to prevent endocarditis (infection of the heart lining).
How long does an outbreak last?
Single ventricle is not an infectious disease, so the concept of an "outbreak" does not apply. The condition is present from birth and requires ongoing management throughout the individual's life.
How is it diagnosed?
Diagnosis usually occurs during infancy or even prenatally:
Fetal echocardiogram: Can detect heart defects before birth.
Echocardiogram: Ultrasound of the heart to visualize its structure and function.
Electrocardiogram (ECG or EKG): Measures the electrical activity of the heart.
Chest X-ray: Provides an image of the heart and lungs.
Cardiac catheterization: A thin tube is inserted into a blood vessel and guided to the heart to measure pressures and oxygen levels.
MRI or CT scan: Provides detailed images of the heart.
Timeline of Symptoms
The timeline of symptoms varies:
Prenatal/Newborn: May be detected on prenatal ultrasound. Cyanosis, rapid breathing, and poor feeding may be apparent shortly after birth.
Infancy: Symptoms like poor weight gain, lethargy, and heart murmur become noticeable.
Childhood/Adolescence/Adulthood: If uncorrected or partially corrected, fatigue, shortness of breath, and swelling may develop as the child grows. Surgical interventions alter this timeline.
Important Considerations
Surgical Interventions: Single ventricle defects require a series of surgeries (typically the Norwood procedure, Glenn shunt, and Fontan procedure) to redirect blood flow and improve oxygenation.
Lifelong Management: Even after surgery, ongoing cardiology care is essential to monitor heart function and manage potential complications.
Neurodevelopmental Outcomes: Children with single ventricle defects are at increased risk for neurodevelopmental delays, so early intervention and support services are crucial.
Endocarditis Risk: Lifelong risk of endocarditis.
Fontan Complications: Later in life, complications such as liver disease, protein-losing enteropathy, and plastic bronchitis can occur after the Fontan procedure.
Pregnancy: Women with single ventricle and prior Fontan operations require specialized counseling and monitoring during pregnancy due to the high risks involved.