Naxos syndrome

From WikiMD's Wellnesspedia

Alternate names[edit | edit source]

Mal de Naxos; Woolly hair palmoplantar keratoderma cardiac abnormalities; Keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair

Definition[edit | edit source]

A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

Epidemiology[edit | edit source]

Naxos was first described in families originating from the Greek island of Naxos. Moreover, affected families have been identified in other Aegean islands, Turkey, Israel and Saudi Arabia. A syndrome with the same cutaneous phenotype and predominantly left ventricular involvement has been described in families from India and Ecuador (Carvajal syndrome, see this term).

Cause[edit | edit source]

  • Mutations in the genes encoding the desmosomal proteins plakoglobin and desmoplakin have been identified as the cause of Naxos disease.
  • Defects in the linking sites of these proteins can interrupt the contiguous chain of cell adhesion, particularly under conditions of increased mechanical stress or stretch, leading to cell death, progressive loss of myocardium and fibro-fatty replacement.

Inheritance[edit | edit source]

Autosomal recessive inheritance, a 25% chance

The disease is transmitted autosomal recessively.

Signs and symptoms[edit | edit source]

  • Woolly hair appears from birth, palmoplantar keratoderma develop during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance.
  • Patients present with syncope, sustained ventricular tachycardia or sudden death.
  • Symptoms of right heart failure appear during the end stages of the disease.
  • In the Carvajal variant the cardiomyopathy is clinically manifested during childhood leading more frequently to heart failure.

Clinical presentation[edit | edit source]

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

30%-79% of people have these symptoms

  • Cleft upper lip(Harelip)
  • Congestive heart failure(Cardiac failure)
  • Curly hair
  • Hyperhidrosis(Excessive sweating)
  • Sparse scalp hair(Reduced/lack of hair on scalp)

5%-29% of people have these symptoms

  • Acanthosis nigricans(Darkened and thickened skin)
  • Sudden cardiac death(Premature sudden cardiac death)

1%-4% of people have these symptoms

  • Abnormal morphology of right ventricular trabeculae
  • Palpitations(Missed heart beat)
  • Prolonged QRS complex
  • Syncope(Fainting spell)
  • T-wave inversion
  • Ventricular extrasystoles(Extra heart beat)

Diagnosis[edit | edit source]

All patients exhibit repolarisation and/or depolarisation abnormalities on resting electrocardiogram and structural/functional abnormalities of the right ventricle on two-dimensional echocardiography leading to the diagnosis of ARVC according to established criteria.[1].

Treatment[edit | edit source]


References[edit | edit source]

  1. Protonotarios, N., & Tsatsopoulou, A. (2006). Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. Orphanet journal of rare diseases, 1, 4. https://doi.org/10.1186/1750-1172-1-4



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