Woolly hair, palmoplantar keratoderma and arrhythmogenic dilated cardiomyopathy in a 7-year-old Turkish girl: Carvajal syndrome

Türkay, Sadi; Ödemiş, Ender; Karadağ, Ahmet

doi:10.1179/146532806x90646

Cited by 8 publications

(5 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although both result in patients with woolly hair and keratoderma, the Gly2375ARg mutation results in more typical ARVC (Alcalai et al 2003), whereas the 7901delG mutation identified in Ecuadorian individuals predominantly involved the left ventricle (LV) and has been termed Carvajal syndrome (Kaplan et al 2004a, Norgett et al 2000). Several other recessive mutations in desmoplakin have also been linked to either fully expressive Carvajal syndrome or to a more restricted syndrome with only heart failure (Turkay et al 2006, Uzumcu et al 2006). Interestingly, Carvajal syndrome patients do not exhibit typical fibrofatty replacement of the myocardium, but rather, with reduced expression of desmosomal proteins (plakoglobin, desmin) and connexin 43, show contractile and electrical abnormalities (Kaplan et al 2004a).…”

Section: A Role For Desmosomal-associated Proteins In Arrhythmogenic mentioning

confidence: 99%

Cell-Cell Connection to Cardiac Disease

Sheikh

Ross

Chen

2009

Trends in Cardiovascular Medicine

128

130

View full text Add to dashboard Cite

Intercalated disks (ICDs) are highly organized cell-cell adhesion structures, which connect cardiomyocytes to one another. They are composed of three major complexes: desmosomes, fascia adherens, and gap junctions. Desmosomes and fascia adherens junction are necessary for mechanically coupling and reinforcing cardiomyocytes, whereas gap junctions are essential for rapid electrical transmission between cells. Because human genetics and mouse models have revealed that mutations and/or deficiencies in various ICD components can lead to cardiomyopathies and arrhythmias, considerable attention has focused on the biologic function of the ICD. This review will discuss recent scientific developments related to the ICD and focus on its role in regulating cardiac muscle structure, signaling, and disease.

show abstract

Section: A Role For Desmosomal-associated Proteins In Arrhythmogenic mentioning

confidence: 99%

Cell-Cell Connection to Cardiac Disease

Sheikh

Ross

Chen

2009

Trends in Cardiovascular Medicine

128

130

View full text Add to dashboard Cite

show abstract

“…Few patients with this syndrome have been reported, mainly from Equador or India. Turkay et al ( 16 ) reported a 7-year-old Turkish girl with Carvajal syndrome in 2006. A desmoplakin gene mutation was detected in one of our patients (Case 3).…”

Section: Discussionmentioning

confidence: 99%

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

Baykan¹,

Olgar²,

Argun³

et al. 2015

Anatol J Cardiol

View full text Add to dashboard Cite

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.

show abstract

“…A similar recessive syndrome in Poll Herefold calves of Australia consisting of woolly hair coat and cardiomyopathy presenting with ventricular arrhythmias, heart failure, and sudden death, which had been till that time misdiagnosed as nutritional myopathy was also described [1]. There are only two cases with these syndromes reported from Turkey [5,6]. In this report, a family with manifestations of both Carvajal and Naxos disease was presented.…”

Section: Introductionmentioning

confidence: 90%