【Andersen syndrome】Andersen syndrome is a rare genetic disorder that affects multiple systems in the body, primarily the heart, skeletal muscles, and skin. It is characterized by a combination of cardiac arrhythmias, muscle weakness, and distinctive skin features. The condition is caused by mutations in the KCNE2 gene, which plays a critical role in regulating the electrical activity of heart cells. This mutation leads to abnormal ion channel function, resulting in various clinical manifestations.
The syndrome was first described by Dr. Erik Andersen in 1971, and since then, it has been recognized as a distinct entity within the broader category of long QT syndrome (LQTS). However, unlike other forms of LQTS, Andersen syndrome often presents with additional non-cardiac symptoms, making it a multi-system disorder.
Below is a summary of key aspects of Andersen syndrome:
| Aspect | Description |
| Name | Andersen syndrome |
| Also Known As | Long QT syndrome type 7 (LQT7) |
| Cause | Mutations in the KCNE2 gene |
| Inheritance Pattern | Autosomal dominant |
| Main Symptoms | Cardiac arrhythmias (especially torsades de pointes), muscle weakness, skin lesions |
| Cardiac Features | Prolonged QT interval on ECG, syncope, sudden cardiac arrest |
| Muscle Features | Myopathy, muscle weakness, hypotonia |
| Skin Features | Hyperkeratotic skin lesions, especially on hands and feet |
| Diagnosis | Genetic testing, ECG, clinical evaluation |
| Treatment | Beta-blockers, implantable cardioverter-defibrillator (ICD), lifestyle changes |
| Prognosis | Variable; early diagnosis and treatment improve outcomes |
Patients with Andersen syndrome may experience episodes of dizziness, fainting, or even sudden death due to irregular heartbeats. The presence of skin abnormalities, such as thickened, dry patches on the palms and soles, can also help in diagnosing the condition.
Management typically involves close monitoring of heart function, medication to control arrhythmias, and avoiding triggers that can worsen symptoms. In severe cases, an ICD may be implanted to prevent sudden cardiac death.
Overall, Andersen syndrome is a complex condition that requires a multidisciplinary approach for effective management. Early recognition and intervention are crucial to improving quality of life and reducing the risk of serious complications.
