Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature

Abstract

ObjectiveNaxos disease is an autosomal recessive, inherited, cardiocutaneous disorder, characterized by arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. Carvajal syndrome is characterized by palmoplantar keratoderma, curly hair, dilated cardiomyopathy, especially on the left ventricle side, and early morbidity. The aim of this study was to evaluate the cutaneous and cardiac findings and genotype-phenotype relationship of six patients diagnosed with Naxos/Carvajal syndrome.MethodsA retrospective review of six cases diagnosed with Naxos/Carvajal syndrome at our institution from 2002 to 2012 was performed. Demographic data; presenting complaints; cutaneous and cardiac findings; electrocardiography, echocardiography, and genetic analysis results; and treatment data were obtained from patient files.ResultsThe patient group was composed of 4 males and 2 females, ranging from 1.5 to 13 years, with a mean age 6.4 years. Typical cutaneous and hair findings were present in all patients. Two cases presented with ventricular tachycardia attack, and 2 cases presented with severe heart failure. Two cases had only cutaneous findings without cardiac involvement at diagnosis. An implantable cardioverter-defibrillator was implanted in one case due to ongoing recurrent ventricular tachycardia attacks despite various antiarrhythmic treatments. Three of the 6 patients died during the follow-up.ConclusionFor cases with woolly hair and palmoplantar keratoderma, the physician should provide a cardiac assessment, considering Naxos/ Carvajal disease associated with cardiomyopathy. When an early diagnosis is made, the life expectancy may be increased by treatment of heart failure and arrhythmias; also, genetic counseling should be performed.

Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy

“…The disease is most prevalent in the Greek island of Naxos with a prevalence of 1:1,000; however, it has also been reported from Turkey, Israel, Saudi Arabia, India, and Argentina (4). Naxos disease is caused by genes encoding the adhesion molecules, namely, plakoglobin and desmoplakin resulting in weakening and disruption of desmosomes and adherens junctions of myocardium and epidermis predominantly (4). Progressive apoptosis of cardiac myocytes and subsequent fibrofatty replacement provides the anatomic basis of progressive cardiac failure, arrhythmia and sudden death.…”

Genetic Hair Disorders: A Review

“…When WH is accompanied by palmoplantar keratoderma, it may be associated with fatal cardiomyopathy like Carvajal syndrome or Naxos syndrome [96], and hence this condition should alert the physician to a cardiac disease [97][98][99].…”

Diagnosis of Cardiomyopathies: Tips and Tricks for Internists and General Practitioners

“…The physical examination gave specific clues just in ARVC (Table 2): the presence of palmoplantar keratoderma and woolly hair is typical in Naxos disease and in Carvajal syndrome, 96 clinical variants of ARVC.…”