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Naxos disease: from the origin to today
Guo-Liang Li1,2, Ardan M Saguner3, Guy H Fontaine4
1Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University, No. 277 Yanta West Road, Xi'an, Shaanxi, 710061, People's Republic of China. liguoliang_med@163.com.
Orphanet Journal of Rare Diseases
|May 12, 2018
Summary
Naxos disease is a severe inherited heart condition, a form of arrhythmogenic right ventricular dysplasia (ARVD), linked to skin and hair abnormalities. Identifying the plakoglobin gene offers new insights into sudden cardiac death mechanisms in young individuals.
Area of Science:
- Cardiology
- Genetics
- Dermatology
Background:
- Naxos disease is a distinct inherited arrhythmogenic right ventricular dysplasia (ARVD) variant.
- Characterized by cardiac anomalies, skin thickening (hands/soles), and woolly hair.
- Presents with ventricular arrhythmias and severe right ventricular dilatation.
Purpose of the Study:
- To elucidate the genetic basis of Naxos disease.
- To understand its relationship with arrhythmogenic right ventricular dysplasia (ARVD).
- To clarify mechanisms of sudden cardiac death in affected young individuals.
Main Methods:
- Clinical description and familial studies.
- Histological examination of cardiac tissue.
- Genetic linkage analysis to identify responsible genes.
Main Results:
- Naxos disease identified as a severe form of ARVD with recessive inheritance.
- First gene responsible for Naxos disease mapped to chromosome 17.
- Plakoglobin identified as the causative protein, a key discovery for ARVD research.
Conclusions:
- Naxos disease provides critical insights into ARVD pathogenesis.
- Understanding plakoglobin's role advances research into juvenile sudden death.
- This discovery opens new avenues for studying inherited cardiomyopathies.
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