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Naxos disease - a narrative review.
Marianna Leopoulou1, Gustav Mattsson2, Jo Ann LeQuang3
1Cardiology Department, Athens General Hospital 'Elpis' , Athens, Greece.
Expert Review of Cardiovascular Therapy
|September 23, 2020
Summary
Naxos disease is a rare genetic disorder causing woolly hair, skin issues, and heart problems similar to arrhythmogenic right ventricular cardiomyopathy (ARVC). Early diagnosis and management based on ARVC guidelines are crucial for patients.
Area of Science:
- Cardiology
- Genetics
- Dermatology
Background:
- Naxos disease is a rare autosomal recessive disorder.
- Characterized by woolly hair, palmoplantar keratosis, and cardiac abnormalities.
- Cardiac manifestations resemble arrhythmogenic right ventricular cardiomyopathy (ARVC), with increased risk of arrhythmias and sudden cardiac death.
Purpose of the Study:
- To review the historic background, epidemiology, clinical characteristics, genetics, and pathogenesis of Naxos disease.
- To outline current therapeutic management strategies.
- To discuss future perspectives and research directions.
Main Methods:
- Comprehensive literature review.
- Analysis of existing data on Naxos disease and related conditions.
- Synthesis of information on genetic mutations, clinical presentation, and treatment.
Main Results:
- Mutations in plakoglobin and desmoplakin genes are identified.
- Progressive right ventricular systolic dysfunction is common, with potential left ventricular involvement.
- Current treatment principles are extrapolated from ARVC and heart failure guidelines due to limited Naxos disease-specific data.
Conclusions:
- Larger registries are needed for better understanding of Naxos disease clinical course and risk stratification.
- Translational research, including stem cell approaches, shows promise for novel therapeutic targets.
- Multidisciplinary management is essential for affected individuals.
Keywords:
Arrhythmogenic right ventricular cardiomyopathyNaxos diseasearrhythmogenic cardiomyopathygeneticssudden cardiac deathMore Related Videos
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