Congenital heart disease cyanotic
For patient information, click Cyanotic congenital heart disease
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Associate Editor(s)-In-Chief: Keri Shafer, M.D. [2], Atif Mohammad, M.D.
Overview
Cyanotic heart defects are called such because they result in cyanosis, a bluish-grey discoloration of the skin due to a lack of oxygen in the body.
Pathophysiology
Associated Conditions
Some of the defects that are associated with cyanotic congenital heart disease are as follows:
- Truncus arteriosus,
- Total anomalous pulmonary venous connection
- Tetralogy of Fallot
- Transposition of the great vessels
- Tricuspid atresia
Causes
Causes in Alphabetical Order
- Aortic valve is unable to open wide enough.
- Chemical exposure
- Coarctation or complete interruption of the aorta
- Ebstein's anomaly
- Genetic and chromosomal syndromes, such as:
- Hypoplastic left heart syndrome
- Infections (such as rubella) during pregnancy
- Medications prescribed by your doctor or bought on your own and used during pregnancy
- Poorly controlled blood sugar levels in women who have diabetes during pregnancy
- Pulmonary valve may be absent or unable to open wide enough.
- Street drugs used during pregnancy
- Tetralogy of Fallot
- Total anomalous pulmonary venous connection
- Transposition of the great arteries
- Tricuspid valve may be absent or unable to open wide enough.
- Truncus arteriosus
Diagnosis
Symptoms
Some heart defects cause major problems right after birth. Others cause few, if any, problems until adulthood.
One symptom is cyanosis, which usually seen as a bluish color of the lips, fingers, and toes. It may occur while the child is resting, or only when the child is active.
Some children have breathing problems (dyspnea). They may get into a squatting position after physical activity to relieve breathlessness.
Others have spells, in which their bodies are suddenly starved of oxygen. During these spells, symptoms may include:
- Anxiety
- Breathing too quickly (hyperventilation)
- Sudden increase in bluish color to the skin
Infants may get tired or sweat while feeding and may not gain as much weight as they should.
Fainting (syncope) and chest pain may occur.
Other symptoms depend on the type of cyanotic heart disease, and may include:
- Feeding problems or reduced appetite, leading to poor growth
- Grayish skin
- Puffy eyes or face
- Tiredness all the time
Physical Examination
Physical examination confirms cyanosis. The child may have clubbed fingers. Abnormal heart sounds, a heart murmur, and lung crackles may be heard.
Extremities
The child may have clubbed fingers.
Laboratory Findings
Electrolyte and Biomarker Studies
The following tests could be performed to help diagnose cyanotic congenital heart disease:
- Checking oxygen levels in the blood using an arterial blood gas test or by checking it through the skin with a pulse oximeter
- Complete blood count (CBC)
Chest X Ray
A chest X ray may be performed to help diagnose cyanotic congenital heart disease.
Echocardiography or Ultrasound
The following can be used to help diagnose cyanotic congenital heart disease:
- ECG
- Looking at the heart structure and blood vessels using echocardiogram or MRI of the heart
Other Diagnostic Studies
The following can be used to help diagnose cyanotic congenital heart disease:
- Passing a thin flexible tube (catheter) into the right or left side of the heart, usually from the groin (cardiac catheterization)
- Transcutaneous oxygen monitor (pulse oximeter)
- Echo-Doppler
- Testing the heart's electrical system
Treatment
Pharmacotherapy
Acute Pharmacotherapies
Infants that remain in the hospital may receive medicines to:
- Get rid of extra fluids
- Help the heart pump harder
- Keep certain blood vessels open
- Treat abnormal heartbeats or rhythms
Surgery and Device Based Therapy
Some infants may need to stay in the hospital after birth so they can receive oxygen or be put on a breathing machine.
The treatment of choice for most congenital heart diseases is surgery to repair the defect. There are many types of surgery, depending on the kind of birth defect. Surgery may be needed soon after birth, or it may be delayed for months or even years.
Pre-Operative Assessment
The infant may be put on diuretics.
Post-Operative Management
The infant may be put on diuretics.
References