Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos–Carvajal syndrome

Kılıç, Teoman; Babaoğlu, Kadir; Aygün, Fuldem Mutlu; Vural, Ahmet; Ural, Dilek; Ağaçdiken, Ayşen; Anık, Yonca; Komşuoğlu, Baki

doi:10.1016/j.ijcard.2006.08.097

Cited by 21 publications

(18 citation statements)

References 5 publications

(7 reference statements)

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“…Molecular genetic analyses so far have characterized over 100 different pathogenic mutations in currently eight ARVC genes ( Table 1). The majority of mutations cause an autosomal dominant trait; however, in some uncommon instances, mutations were associated with a recessive mode of inheritance that was linked to a more severe type of ARVC manifestation with/without additional cutaneous phenotype [1,5,16,40,56,87]. Recurrent or "common" ARVC mutations are few but noteworthy, particularly in PKP-2, some have been reported.…”

Section: Arrhythmogenic Right Ventricular Cardiomyopathy (Arvc) Diagnmentioning

confidence: 99%

“…In rare instances, ARVC may have a left ventricular involvement [32,33,40,45,53,59,89,94] due to a rare mutation in an ARVC gene (DSP-2) [69]. Due to its chromosomal position, an overlap between ARVC-2 and CPVT-1 (catecholaminergic polymorphic ventricular tachycardia), both caused by mutations in the human RyR2 gene [77,95], has been discussed; however, the clinical presentation of the majority of CPVT-1 patients is quite different from those with ARVC (e.g., [76]).…”

Section: Overlap With Other Cardiac Diseasesmentioning

confidence: 99%

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Genes Causing Inherited Forms of Cardiomyopathies

Paul

Zumhagen

Stallmeyer

et al. 2009

Herz

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Cardiomyopathies (diseases of the heart muscle) are a relevant but heterogeneous group of cardiac diseases. The underlying structural myocardial alterations, detectable with contemporary cardiac imaging modalities and also on twelve-lead surface ECG, embody both linkage and differentiation of the respective clinical forms. Most of these are defined to the heart, however, cardiac involvement is also known in the presence of specific metabolic or muscular systemic diseases. In many of the known cardiomyopathies, a genetic background has been elucidated thus indicating a potential familial disease. This, in turn, also harbors the risk that more family members may be affected besides the index patient.

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Section: Arrhythmogenic Right Ventricular Cardiomyopathy (Arvc) Diagnmentioning

confidence: 99%

Section: Overlap With Other Cardiac Diseasesmentioning

confidence: 99%

Genes Causing Inherited Forms of Cardiomyopathies

Paul

Zumhagen

Stallmeyer

et al. 2009

Herz

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“…Naxos disease is an autosomal recessively inherited familial syndrome that was first reported in the Hellenic island of Naxos (3,4). Cases also have been reported in other Hellenic islands, as well as in Turkey, Israel and Saudi Arabia (4).…”

Section: Introductionmentioning

confidence: 99%

Nine Year Old Girl with Left Ventricle Non-Compaction and Skin Lesions (Carvajal Syndrome)

et al. 2015

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Introduction: Arrhythmogenic right ventricular dysplasia (ARVD), a cardiomyopathy characterized by fibrofatty degeneration of the myocardium with progressive dysfunction, electrical instability, and sudden death, occurs in approximately 1 in 5000 people in the United States. Case Presentation: We present a nine-year-old girl complaining of dyspnea, easy fatigability and skin lesions. She had a history of an occasional epistaxis and weakness since 20 days before her admission, accompanied by the symptoms and signs of common cold, specially cough, during the last two days. Conclusions: This case does confirm that dilated cardiomyopathy's spectrum is wider than ever known and that like what happened at the congress of Boston in 2006, a more comprehensive approach to its genetic types needs to be done.

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“…Cases also have been reported in other Hellenic islands, as well as in Turkey, Israel, and Saudi Arabia. 2 Apart from a small minority that show woolly hair and a few ECG or echocardiographic abnormalities not fulfilling the criteria for arrhythmogenic right ventricular dysplasia/cardiomyopathy, heterozygotes display normal phenotype. 3 A variant of Naxos disease, reported as Carvajal syndrome, has been described in families from India and Ecuador.…”

mentioning

confidence: 99%

“…T-wave inversion in V 1 , V 2 , or V 3 or extended to V 5 also was observed. 2 In Naxos disease, cardiac histology reveals the characteristic loss of the right ventricular myocardium with fibrofatty replacement. Cardiac histology of the Carvajal disease shows areas of extensive myocardial loss and replacement with fibrosis that is very similar to arrhythmogenic right ventricular dysplasia/cardiomyopathy pathology but without the fatty component.…”

mentioning

confidence: 99%