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catecholaminergic polymorphic ventricular tachycardia 3

ICD-10 Codes

Related ICD-10:

Description

Catecholaminergic Polymorphic Ventricular Tachycardia 3 (CPVT3) is a rare and severe genetic disorder that affects the heart's electrical system. It is characterized by an abnormal heart rhythm, specifically ventricular tachyarrhythmias, which can be triggered by physical or emotional stress.

Key Features of CPVT3:

  • Overlapping features with Long QT Syndrome: CPVT3 shares characteristics with long QT syndrome (LQTS), another genetic disorder that affects the heart's electrical system.
  • Adrenergic Ventricular Tachycardia: Affected individuals exhibit a high prevalence of adrenergic ventricular tachycardia, which is a type of abnormal heart rhythm triggered by catecholamines (stress hormones).
  • Genetic Basis: CPVT3 is caused by mutations in the TECRL gene.

Symptoms and Risks:

  • Episodic Syncope: Individuals with CPVT3 may experience episodes of fainting or near-fainting during physical activity or emotional stress.
  • Life-Threatening Arrhythmias: The condition can lead to potentially life-threatening abnormal heart rhythms, which require immediate medical attention.

References:

  • [1] Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see 192500) and CPVT. ([4])
  • CPVT3 is characterized by overlapping features of long QT syndrome (LQTS) and CPVT. Affected individuals exhibit adrenergic VT associated with a high prevalence ... ([5])

Additional Characteristics

  • Catecholaminergic Polymorphic Ventricular Tachycardia 3 (CPVT3)
  • Overlapping features with Long QT Syndrome
  • Adrenergic Ventricular Tachycardia
  • Episodic Syncope
  • Life-Threatening Arrhythmias
  • TECRL gene mutation

Signs and Symptoms

**Common Signs

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). The diagnostic tests for CPVT are crucial in identifying the condition and ruling out other possibilities. Here are some of the key diagnostic tests used to diagnose CPVT:

  • Exercise Stress Test: This test is considered the single most important diagnostic test for CPVT [1]. During this test, the patient undergoes physical exercise while their heart rhythm is monitored. The presence of polymorphic ventricular tachycardia (fast abnormal heart rhythm) during exercise is a typical finding in patients with CPVT [2].
  • Holter Monitoring: This test involves continuous monitoring of the heart rhythm over a 24-hour period. It can help identify arrhythmias that may not be present during an exercise stress test.
  • Electrocardiogram (ECG): An ECG is a non-invasive test that records the electrical activity of the heart. While it may not always diagnose CPVT, it can provide valuable information about the patient's heart rhythm.

Genetic Testing: Genetic testing for CPVT involves analyzing genes associated with the condition. A 10-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of catecholaminergic polymorphic ventricular tachycardia [7].

It's essential to note that these diagnostic tests should only be performed under the guidance of a qualified healthcare professional.

References: [1] Jun 23, 2022 — The exercise stress test is the single most important diagnostic test. [2] CPVT is diagnosed by cardiac stress (treadmill) test and typical findings include polymorphic ventricular tachycardia (fast abnormal heart rhythm). [7] A 10 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of catecholaminergic polymorphic ventricular ...

Additional Diagnostic Tests

  • Electrocardiogram (ECG)
  • Genetic Testing
  • Holter Monitoring
  • Exercise Stress Test

Treatment

Therapeutic Management for CPVT

The therapeutic management for patients with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) includes beta blockers without intrinsic sympathomimetic activity. Nadolol is the beta-blocker of choice, as it has been shown to be effective in reducing the frequency and severity of ventricular arrhythmias associated with CPVT.

  • Beta blockers are considered a first-line treatment for CPVT, as they can help reduce the heart rate and contractility of the heart, thereby decreasing the likelihood of ventricular arrhythmias.
  • Nadolol is a non-selective beta blocker that has been specifically studied in patients with CPVT and has been shown to be effective in reducing the frequency and severity of ventricular arrhythmias.

References:

  • [3] Therapeutic management for patients with CPVT includes beta blockers without intrinsic sympathomimetic activity. Nadolol is the beta-blocker of choice...

Recommended Medications

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Differential Diagnosis

Differential Diagnosis of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Catecholaminergic polymorphic ventricular tachycardia (CPVT) can be challenging to diagnose due to its similarity with other cardiac conditions. The principal differential diagnoses for CPVT are:

  • Long QT Syndrome (LQTS): LQTS is a genetic disorder that affects the heart's electrical system, causing abnormal heart rhythms. Like CPVT, LQTS can cause sudden cardiac death, but it has a relatively better prognosis than CPVT [6].
  • Other arrhythmia syndromes: Polymorphic ventricular tachycardia (VT) is another type of arrhythmia that can mimic CPVT in its electrocardiographic characteristics. However, the treatment options for these conditions differ significantly [11].

Key differences between CPVT and LQTS:

  • ECG findings: While both CPVT and LQTS can cause abnormal heart rhythms, the ECG patterns are distinct. CPVT is characterized by bidirectional or polymorphic ventricular tachycardia, whereas LQTS typically presents with a prolonged QT interval [2].
  • Family history: Both conditions have a genetic component, but CPVT tends to be inherited in an autosomal dominant pattern, whereas LQTS can be inherited in either an autosomal dominant or recessive pattern [14].

Other considerations:

  • Structural heart disease: Unlike CPVT, which is characterized by a structurally normal heart, other cardiac conditions such as cardiomyopathies or congenital heart defects may also present with arrhythmias.
  • Adrenergic stress triggers: CPVT is triggered by adrenergic stimuli, whereas LQTS can be triggered by various factors, including emotional stress, exercise, or certain medications.

References:

[6] Context reference 6 [11] Context reference 11

Additional Differential Diagnoses

Additional Information

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