Disease Information for Naxos syndrome

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Clinical Manifestations
Signs & Symptoms
Cardiac Symptoms/Signs
Curly Hair
Palmar keratosis
Demographics & Risk Factors
Ethnic or Racial Factors
Mediterranean racial stock/population
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
EKG (ECG)
EKG/Wide QRS pattern tachycardia (ECG)
EKG/Widened QRS pattern (ECG)
EKG/Changes/abnormalities (ECG)
Angiography
Heart cath/Right side abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Death/Unanticipated
Venticular tach/non sustained/recurrent
Wooley hair disease
Cardiac death, sudden
Disease Mechanism & Classification
Class
CLASS/Cardiovascular (category)
CLASS/Heart disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 14q23-q24
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene locus chromosome 14
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Dysplasia/aplasia (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Vegetative-Autonomic/Endocrine (category)
Synonyms
Synonym
Naxos syndrome, Synonym/Naxos Familial variant RV dysplasia, Synonym/Naxos Wooley hair-RVDysplasia var
Definition

Arrhythmic right ventricular dysplasia is characterized by focal fibrous-fatty replacement of the right ventricle; The right ventricular free wall and the atria are primarily involved, giving rise to ventricular and supraventricular arrhythmias, which are often the presenting symptom; Proposed pathology includes congenital hypoplasia of myocardial tissue and focal injury with fibrous replacement; Some patients present with left ventricular dysfunction, without initial recognition of the right ventricular abnormalities, which are often unappreciated on routine echocardiography; Currently, about one third of patients have evidence of familial involvement in an autosomal dominant pattern, with at least four genes currently identified on chromosomes 1 and 14; A well-known variant is Naxos syndrome originating from the Mediterranean area, in which the affected family members share strikingly curly hair and palmar hyperkeratosis; -------------[Cecil 2004]---------------------

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External Links Related to Naxos syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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