Cyanotic heart disease

Cyanotic heart disease is a group of many different heart defects that are present at birth (congenital heart defects). They result in a low blood oxygen level, leading to cyanosis, a bluish-purple coloration to the skin, and shortness of breath.

Causes

Cyanotic heart disease is caused by a defect in the heart or major blood vessels that some babies are born with. These defects lead to abnormal blood flow patterns. Normally, the heart's left side only pumps blood to the body, and the right side only pumps blood to the lungs. In a child with cyanotic heart disease, blood can travel through the heart and lungs without becoming fully oxygenated.

Types

There are several types of cyanotic heart disease, including:

• Tetralogy of Fallot - This is the most common cyanotic heart defect and a major cause of blue baby syndrome.
• Transposition of the great arteries - In this rare condition, the two main arteries leaving the heart are reversed.
• Tricuspid atresia - In this condition, the tricuspid heart valve is missing or abnormally developed. The result is very little blood can travel from the right atrium to the right ventricle.
• Total anomalous pulmonary venous return - In this condition, the veins that bring blood back from the lungs to the heart are improperly connected.
• Truncus arteriosus - In this condition, one large vessel leads out of the heart, instead of two separate vessels.

Symptoms

Symptoms of cyanotic heart disease may include:

• Shortness of breath
• Clubbing of fingers and toes
• Poor weight gain and growth
• Heart murmur
• Fatigue
• Delayed development
• Episodes of rapid breathing or pauses in breathing (apnea)

Diagnosis

Diagnosis of cyanotic heart disease often happens during a pregnancy ultrasound. After birth, the baby may show signs of low oxygen levels, such as a bluish coloration to the skin. The diagnosis is confirmed by tests such as:

• Echocardiogram
• Electrocardiogram
• Chest x-ray
• Pulse oximetry
• Cardiac catheterization

Treatment

Treatment for cyanotic heart disease usually involves surgery to correct the heart defect. Medications may also be used to help improve heart function and manage symptoms.

Prognosis

The prognosis for cyanotic heart disease depends on the specific defect and the severity of the condition. With early diagnosis and appropriate treatment, many children with cyanotic heart disease can lead relatively normal lives.

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