Cardiac conduction defect, familial

Cardiac Conduction Defect, Familial (CCD, Familial) is a group of inherited conditions that affect the electrical conduction system of the heart. These defects can lead to disturbances in heart rhythm (arrhythmias), which can vary in severity from benign to life-threatening. Familial CCD emphasizes the genetic or hereditary nature of these conditions, highlighting that they can be passed down through families.

Overview

The heart's electrical system controls the rate and rhythm of the heartbeat. In individuals with cardiac conduction defects, there is a disruption in this system, which can lead to various types of arrhythmias. These defects can be isolated or part of a syndrome involving other cardiac or systemic abnormalities.

Causes

Familial CCD is primarily caused by genetic mutations that affect the heart's electrical conduction pathways. These mutations can be in genes encoding for cardiac ion channels, conduction system proteins, or other related structures. The inheritance patterns can be autosomal dominant, autosomal recessive, or less commonly, X-linked.

Symptoms

Symptoms of CCD can vary widely among affected individuals, ranging from no symptoms at all (asymptomatic) to palpitations, fainting (syncope), or sudden cardiac death. The severity and type of symptoms typically depend on the specific type of conduction defect and its impact on heart function.

Diagnosis

Diagnosis of familial CCD involves a combination of clinical evaluation, family history, electrocardiogram (ECG) testing, and genetic testing. The ECG is a crucial tool in identifying specific patterns of conduction abnormalities. Genetic testing can confirm the diagnosis and help identify other at-risk family members.

Treatment

Treatment for familial CCD depends on the type and severity of the conduction defect and may include medications, lifestyle modifications, or the implantation of a pacemaker or defibrillator to manage arrhythmias and prevent sudden cardiac death.

Prevention and Management

Preventive measures for familial CCD focus on regular monitoring and early detection of arrhythmias. Affected individuals and their families may also benefit from genetic counseling to understand the risks and implications of inherited cardiac conditions.

See Also

• Arrhythmia
• Electrocardiogram
• Genetic testing
• Pacemaker

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