Kathemolaminergic Polymorphic Cardiac Arrest, often abbreviated as CPVT, is a rare but potentially deadly genetic heart condition. It affects the way the heart responds to stress, leading to a disruption of the normal cardiac rhythm.

If not managed properly, this could lead to cardiac arrest.

What is Kathemolaminergic Polymorphic Cardiac Arrest?

CPVT is a genetic heart condition that affects the electrical activity in the heart.

It is caused by mutations in the genes that control the release of calcium in the heart muscle cells, leading to an abnormal response to adrenaline and other stress hormones.

This disruption of the heart rhythm can result in a seizure or cardiac arrest. Sudden death is possible, even in young individuals who are not known to have heart problems.

What are the Symptoms of CPVT?

Many people with CPVT may not experience any symptoms until they are exposed to significant stress or exercise. Some common symptoms include:.

Dizziness
Lightheadedness
Fainting
Seizures
Shortness of breath
Racing heart
Chest pain

What Causes CPVT?

CPVT is caused by mutations in the genes responsible for the production of proteins that regulate the heart’s calcium channels. These mutations can be inherited from one or both parents or may occur spontaneously in the affected individual.

There are several known genes responsible for CPVT, including RYR2 and CASQ2. Mutations in RYR can result in a leaky calcium channel, while mutations in CASQ can lead to a deficient calcium-buffering protein.

Both of these can cause an abnormal response to adrenaline and other stress hormones, leading to a dysregulated cardiac rhythm.

How is CPVT Diagnosed?

Diagnosis of CPVT may involve several tests, including:.

Electrocardiogram (ECG) to monitor the electrical activity of the heart
Exercise stress test to evaluate the heart’s response to physical activity
Echocardiogram to examine the structure and function of the heart
Genetic testing to identify mutations associated with CPVT

How is CPVT Treated?

The management of CPVT may involve several approaches:.

Pharmacotherapy – medications such as beta-blockers and calcium channel blockers can help control the heart’s response to stress hormones.
Implantable Devices – An implantable cardioverter-defibrillator (ICD) can be implanted if the risk of sudden death is high.
Lifestyle Modification – Avoiding situations that trigger stress or anxiety, such as rapid exercise or emotional stress, may help manage the condition.

Conclusion

Kathemolaminergic Polymorphic Cardiac Arrest is a rare but severe genetic heart condition that can lead to sudden death. Early diagnosis and appropriate management are essential for preserving the quality of life and reducing the risk of complications.