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Naxos disease

Guo-Liang Li, Ardan M Saguner, Guy H Fontaine
Naxos disease, first described by Dr. Nikos Protonotarios and colleagues on the island of Naxos, Greece, is a special form of arrhythmogenic right ventricular dysplasia (ARVD). It is an inherited condition with a recessive form of transmission and a familial penetrance of 90%. It is associated with thickening of the skin of the hands and sole, and a propensity to woolly hair. The cardiac anomalies characterized by ventricular arrhythmias with ventricular extrasystoles and tachycardia and histologic features of the myocardium are consistent with ARVD, but in a more severe form of dysplasia with major dilatation of the right ventricle...
May 10, 2018: Orphanet Journal of Rare Diseases
Mahdieh Soveizi, Bahareh Rabbani, Yousef Rezaei, Sedigheh Saedi, Nasim Najafi, Majid Maleki, Nejat Mahdieh
The arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic disease frequently associated with desmosomal mutations, mainly attributed to dominant mutations in the Plakophilin-2 (PKP2) gene. Naxos and Carvajal are the syndromic forms of ARVD/C due to recessive mutations. Herein, we report an autosomal recessive form of nonsyndromic ARVD/C caused by a mutation in the PKP2 gene. After examination and implementation of diagnostic modalities, the definite diagnosis of ARVD/C was confirmed by detection of ventricular tachycardia with a left bundle branch configuration and a superior axis, T-wave inversion in right precordial leads (i...
July 2017: Annals of Human Genetics
Anja Karine Ruud, Susanne Windju, Tatiana Belova, Timothy L Friesen, Morten Lillemo
The effect of the SnTox3-Snn3 interaction was documented for the first time under natural infection at the adult plant stage in the field. Co-segregating SNP markers were identified. Parastagonospora nodorum is a necrotrophic pathogen of wheat, causing Septoria nodorum blotch (SNB) affecting both the leaf and glume. P. nodorum is the major leaf blotch pathogen on spring wheat in Norway. Resistance to the disease is quantitative, but several host-specific interactions between necrotrophic effectors (NEs) and host sensitivity (Snn) genes have been identified, playing a major role at the seedling stage...
July 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Abhijit Dutta, Sudip Kumar Ghosh, Biswajit Majumder, Rahul Majumdar
Woolly hair may occur as an isolated problem of cosmetic concern or can be a part of a systemic disease (woolly hair syndrome) with underlying fatal cardiomyopathy. Two characteristic associations of woolly hair syndrome are Naxos disease and Carvajal syndrome. Naxos disease is characterized by woolly hair, palmoplantar keratoderma, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy...
September 15, 2016: Dermatology Online Journal
Akm Monwarul Islam, Md Toufiqur Rahman, Abu Hana Chowdhury
Naxos disease is a rare autosomal recessive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) with woolly hair and palmoplantar keratoderma. The cardiomyopathy presents by adolescence with syncope, ventricular tachycardia (VT) of left bundle branch block (LBBB) morphology, and/or ventricular fibrillation. The diagnosis and management of ARVC are at present in evolution; the recently published modified Task Force Criteria for diagnosis and International Task Force consensus statement for treatment of ARVC will hopefully bring about uniformity in recognition and management of Naxos disease as well...
October 2016: Cardiovascular Diagnosis and Therapy
Elise L Kessler, Toon A B van Veen
The paper entitled "Identification of a New Modulator of the Intercalated Disc in a Zebrafish Model of Arrhythmogenic Cardiomyopathy", as published in 2014 in Science Translational Medicine, examined the effects of the newly discovered drug SB216763 (SB21) on arrhythmogenic cardiomyopathy (ACM). In this paper, the authors focused on mechanisms underlying ACM and the accompanying molecular and cellular alterations. Most importantly they showed that SB21 was able to rescue and partly reverse the ACM phenotype in three different experimental models: (I) a zebrafish model of Naxos disease induced by the overexpression of the 2057del2 mutation in plakoglobin (PKG); (II) neonatal rat cardiomyocytes overexpressing the same mutation in PKG; (III) cardiomyocytes derived from induced pluripotent stem cells expressing two different forms of mutations in plakophilin-2...
May 2015: Annals of Translational Medicine
Vered Molho-Pessach, Sivan Sheffer, Rula Siam, Spiro Tams, Ihab Siam, Rula Awwad, Sofia Babay, Julius Golender, Natalia Simanovsky, Yuval Ramot, Abraham Zlotogorski
BACKGROUND: Mutations in various desmosomal proteins were shown to cause inherited forms of cardiomyopathy. Carvajal syndrome (Online Mendelian Inheritance in Man [OMIM] 605676) is characterized by the association of dilated cardiomyopathy, striate palmoplantar keratoderma, and woolly hair. It is caused by homozygous as well as heterozygous mutations in DSP, which encodes the desmosomal plaque protein desmoplakin. An overlapping cardiocutaneous phenotype was also described with homozygous mutations in genes encoding two other desmosomal proteins; plakoglobin (Naxos disease; OMIM 601214) and desmocollin-2 (OMIM 610476)...
September 2015: Pediatric Dermatology
Zhiwei Zhang, Matthew J Stroud, Jianlin Zhang, Xi Fang, Kunfu Ouyang, Kensuke Kimura, Yongxin Mu, Nancy D Dalton, Yusu Gu, William H Bradford, Kirk L Peterson, Hongqiang Cheng, Xinmin Zhou, Ju Chen
Arrhythmogenic cardiomyopathy (AC) is associated with mutations in genes encoding intercalated disc proteins and ultimately results in sudden cardiac death. A subset of patients with AC have the autosomal recessive cardiocutaneous disorder Naxos disease, which is caused by a 2-base pair deletion in the plakoglobin-encoding gene JUP that results in a truncated protein with reduced expression. In mice, cardiomyocyte-specific plakoglobin deficiency recapitulates many aspects of human AC, and overexpression of the truncated Naxos-associated plakoglobin also results in an AC-like phenotype; therefore, it is unclear whether Naxos disease results from loss or gain of function consequent to the plakoglobin mutation...
April 2015: Journal of Clinical Investigation
Bruno Pinamonti, Francesca Brun, Luisa Mestroni, Gianfranco Sinagra
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disease characterized by myocyte loss and fibro-fatty tissue replacement. Diagnosis of ARVC remains a clinical challenge mainly at its early stages and in patients with minimal echocardiographic right ventricular (RV) abnormalities. ARVC shares some common features with other cardiac diseases, such as RV outflow ventricular tachycardia, Brugada syndrome, and myocarditis, due to arrhythmic expressivity and biventricular involvement. The identification of ARVC can be often challenging, because of the heterogeneous clinical presentation, highly variable intra- and inter-family expressivity and incomplete penetrance...
December 26, 2014: World Journal of Cardiology
Ali Baykan, Şeref Olgar, Mustafa Argun, Abdullah Özyurt, Özge Pamukçu, Kazım Üzüm, Nazmi Narin
OBJECTIVE: Naxos 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...
May 2015: Anatolian Journal of Cardiology
Qiongxian Lu, Morten Lillemo
The field resistance to Parastagonospora nodorum leaf blotch in SHA3/CBRD is based on many genes with minor effects. Parastagonospora nodorum leaf blotch is a severe wheat disease in Norway and other regions with humid and rainy climate. It causes grain shriveling and reduced yield in years of epidemics. Shanghai-3/Catbird (SHA3/CBRD), a CIMMYT breeding line, was observed to be resistant to P. nodorum leaf blotch in the field. The objective of the current study was to map the genetic factors related to its resistance...
December 2014: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Tomaso Bottio, Jonida Bejko, Vincenzo Tarzia, Gino Gerosa
Carvajal syndrome is a variant of Naxos disease characterized by a predominant left ventricular involvement, wooly or curly hair, and palmoplantar keratoderma or similar skin disorders. We describe the clinical and therapeutic course of a 14-year old boy affected by this syndrome, in whom a progressive biventricular failure developed at 13 years of age. The patient was hospitalized in the pediatric department 3 months earlier after the onset of cardiac arrhythmias and he critically worsened with signs and symptoms of biventricular cardiac failure...
July 31, 2014: International Journal of Artificial Organs
Yue Zhou, Yan Ren, Morten Lillemo, Zhanjun Yao, Peipei Zhang, Xianchun Xia, Zhonghu He, Zaifeng Li, Daqun Liu
Six QTL for adult plant resistance to leaf rust, including two QTL effective against additional diseases, were identified in a RIL population derived from a cross between Shanghai 3/Catbird and Naxos. Leaf rust is an important wheat disease and utilization of adult-plant resistance (APR) may be the best approach to achieve long-term protection from the disease. The CIMMYT spring wheat line Shanghai 3/Catbird (SHA3/CBRD) showed a high level of APR to Chinese Puccinia triticina pathotypes in the field. To identify APR genes in this line, a mapping population of 164 recombinant inbred lines (RILs) was developed from a cross of this line and Naxos, a moderately susceptible German cultivar...
September 2014: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Yuval Ramot, Vered Molho-Pessach, Tomer Meir, Ruslana Alper-Pinus, Ihab Siam, Spiro Tams, Sofia Babay, Abraham Zlotogorski
BACKGROUND: The combination of palmoplantar keratoderma and woolly hair is uncommon and reported as part of Naxos and Carvajal syndromes, both caused by mutations in desmosomal proteins and associated with cardiomyopathy. We describe two large consanguineous families with autosomal-recessive palmoplantar keratoderma and woolly hair, without cardiomyopathy and with no mutations in any known culprit gene. The aim of this study was to find the mutated gene in these families. METHODS AND RESULTS: Using whole-exome sequencing, we identified a homozygous missense c...
June 2014: Journal of Medical Genetics
Srijita Sen-Chowdhry, William J McKenna
The classic cardiocutaneous syndromes of Naxos and Carvajal are rare. The myocardial disorder integral to their pathology - arrhythmogenic cardiomyopathy - is arguably not uncommon, with a prevalence of up to 1 in 1,000 despite almost certain under-recognition. Yet the study of cardiocutaneous syndromes has been integral to evolution of the contemporary perspective of arrhythmogenic cardiomyopathy - its clinical course, disease spectrum, genetics, and cellular and molecular mechanisms. Here we discuss how recognition of the association of hair and skin abnormalities with underlying heart disease transformed our conception of a little-understood but important cause of sudden cardiac death...
February 2014: Cell Communication & Adhesion
Nazmi Gultekin, Emine Kucukates
We evaluated a female patient with an unusual form of Naxos disease, who presented with central cyanosis and clubbing, simulating congenital heart disease. Adjuvant low-dose colchicine therapy (0.5 mg once daily) showed positive effects and has been continued for six months. Colchicine has anti-inflammatory and anti-fibrotic properties. It inhibits mitosis by disrupting tubulin assembly and enhances cellular apoptosis. Follow-up showed improvement in the patient's clinical status, with a dramatic disappearance of the electrical storm and reductions in cyanosis and palmoplantar hyperkeratosis...
August 2013: Acta Cardiologica
Anooja Abdul Salam, K S Remadevi, Renu P Kurup
An 11-yr-old girl, born out of a consanguineous marriage presented with recurrent exertional syncope due to ventricular tachycardia. She had woolly hair, palmoplantar hyperkeratosis and mild cardiomegaly. Echocardiogram revealed mild left ventricular dysfunction. Features were consistent with Carvajal variant of Naxos disease, an arrhythmogenic cardiomyopathy with autosomal recessive inheritance.
June 8, 2013: Indian Pediatrics
Hasan Kaya, Mustafa Oylumlu, Faruk Ertaş, Mehmet Guli Cetinçakmak
No abstract text is available yet for this article.
April 2013: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Jose Alberto Garcia Noain, Amparo Cantin Golet, Jorge Navarro Calzada, Ascension Muñoz Mellado, Julian Mozota Duarte
Naxos disease is a recessive inherited condition with arrhythmogenic right ventricular dysplasia (ARVD) and a peculiar cutaneous phenotype (woolly hair and a palmoplantar keratoderma). Woolly hair appears from birth, palmoplantar keratoderma develops during childhood and cardiomyopathy is clinically manifested by adolescence. Patients present with syncope, sustained ventricular tachycardia or sudden death. We report a case of a 14 year old boy from Spain, who was admitted into our emergency room after being resuscitated from cardiac arrest, secondary to malignant ventricular tachycardia that developed while he was playing basketball...
October 2012: Indian Journal of Critical Care Medicine
Hüseyin Yildiz, Emin Silay, Ismail Coskuner, Kemal Ozyurt, Seref Olgar, Nimet Senoglu, Hafize Oksuz
Naxos disease is a recessively inherited arrhythmogenic right ventricular cardiomyopathy in which the cardiac phenotype is associated with palmoplantar keratoderma and woolly hair. The hair phenotype is unique, characterized by congenital woolly, curly, rough, and light-colored scalp hair and sparse eyebrows. However, arrhythmias and severe cardiomyopathies are causes of severe life threatened intracardiac thrombus. Thrombus therapy needs private care and sedative, operative processes need to give close attention to these patients...
February 2013: Bosnian Journal of Basic Medical Sciences
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