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Published on: August 15, 2019
Naxos disease and Carvajal variant
Anooja Abdul Salam1, K S Remadevi, Renu P Kurup
1Department of Pediatric Cardiology, Malabar Institute of Medical Sciences, Calicut Dist, Kerala, India.
Indian Pediatrics
|August 15, 2013
Summary
A rare genetic heart condition, Carvajal variant of Naxos disease, caused ventricular tachycardia and fainting in a young girl. This autosomal recessive disorder affects the heart and skin, requiring careful diagnosis.
Area of Science:
- Cardiology
- Genetics
- Dermatology
Background:
- Naxos disease is a rare arrhythmogenic cardiomyopathy characterized by autosomal recessive inheritance.
- It typically presents with specific skin and hair abnormalities, alongside cardiac involvement.
Observation:
- An 11-year-old girl with a history of consanguineous marriage experienced recurrent exertional syncope.
- Physical examination revealed woolly hair, palmoplantar hyperkeratosis, and mild cardiomegaly.
- Echocardiography showed mild left ventricular dysfunction.
Findings:
- The patient's clinical presentation and diagnostic findings were consistent with the Carvajal variant of Naxos disease.
- This variant is a form of arrhythmogenic cardiomyopathy linked to genetic mutations.
Implications:
- Early diagnosis of Carvajal variant of Naxos disease is crucial for managing ventricular tachycardia and preventing sudden cardiac events.
- Understanding the genetic basis and inheritance pattern aids in genetic counseling for affected families.
- This case highlights the importance of recognizing the multi-systemic manifestations of Naxos disease, including cardiac and dermatological features.
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