Ventricular familial preexcitation syndrome

Ventricular Familial Preexcitation Syndrome is a rare cardiac condition characterized by the presence of an accessory electrical pathway between the atria and the ventricles. This pathway can lead to preexcitation of the ventricles, which means that the ventricles are activated before they would be in a normal heart cycle. This condition is significant because it can predispose individuals to various arrhythmias, including potentially life-threatening ones such as atrial fibrillation and ventricular fibrillation.

Causes and Genetics

Ventricular Familial Preexcitation Syndrome is primarily caused by genetic mutations that affect the electrical system of the heart. It is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the condition if one parent is affected. The specific genes involved can vary, but mutations in the PRKAG2 gene have been frequently associated with this syndrome. This gene plays a role in the regulation of adenosine monophosphate-activated protein kinase, which is important for energy metabolism in the heart.

Symptoms

Symptoms of Ventricular Familial Preexcitation Syndrome can vary widely among individuals. Some may remain asymptomatic throughout their lives, while others may experience a range of symptoms, including:

• Palpitations
• Dizziness
• Syncope (fainting)
• Chest pain
• Fatigue

The severity and frequency of these symptoms can vary, and they are often triggered by exercise or stress.

Diagnosis

Diagnosis of Ventricular Familial Preexcitation Syndrome typically involves a combination of electrocardiogram (ECG) analysis, family history, and genetic testing. The ECG of an individual with this syndrome may show a shortened PR interval and a delta wave, which are indicative of preexcitation. Genetic testing can confirm the presence of mutations associated with the condition.

Treatment

Treatment for Ventricular Familial Preexcitation Syndrome focuses on managing symptoms and reducing the risk of life-threatening arrhythmias. Options may include:

• Medications such as beta-blockers or antiarrhythmic drugs
• Catheter ablation, a procedure to destroy the abnormal electrical pathway
• Implantable cardioverter-defibrillator (ICD) placement in individuals at high risk of sudden cardiac death

Prognosis

The prognosis for individuals with Ventricular Familial Preexcitation Syndrome varies. Those who are asymptomatic or who have their arrhythmias well-controlled with treatment can lead normal lives. However, there is an increased risk of sudden cardiac death, especially in those with uncontrolled arrhythmias.

See Also

• Wolff-Parkinson-White syndrome
• Cardiomyopathy
• Genetic testing