Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
Warning: file_get_contents(http://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=17363426&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests
in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 445
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
Review on the genetics of arrhythmogenic right ventricular dysplasia Moric-Janiszewska E; Markiewicz-Loskot GEuropace 2007[May]; 9 (5): 259-66Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity whose diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular (RV) free wall. There is a familial occurrence in about 50% of cases, with autosomal dominant inheritance with variable penetrance and polymorphic phenotypic expression, and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the extensive form of ARVCM (arrhythmogenic right ventricular cardiomyopathy). In this review, we focus on the some candidate genes mutations and information on some genotype-phenotype correlation in the ARVD. Our findings are in agreement with those of European Society of Cardiology who stated that: genetic analysis is usefull in families with RV cardiomyopathy because whenever a pathogenetic mutation is identified, it becomes possible to establish a presymptomatic diagnosis of the disease among family members and to provide them with genetic counseling to monitor the development of the disease and to assess the risk of transmitting the disease offspring. On the basis of current knowledge, genetic analysis does not contribute to risk stratification of arrhythmogenic RV cardiomyopathy.|Adaptor Proteins, Signal Transducing/genetics[MESH]|Adolescent[MESH]|Arrhythmogenic Right Ventricular Dysplasia/*diagnosis/*genetics[MESH]|Death, Sudden, Cardiac[MESH]|Desmin/genetics[MESH]|Desmocollins/genetics[MESH]|Desmogleins/genetics[MESH]|Desmoplakins/genetics[MESH]|Humans[MESH]|LIM Domain Proteins[MESH]|Mutation/*genetics[MESH]|Plakophilins/genetics[MESH]|Protein Tyrosine Phosphatases/genetics[MESH]|Receptors, Laminin/genetics[MESH]|Ryanodine Receptor Calcium Release Channel/genetics[MESH]|Transforming Growth Factor beta3/genetics[MESH] |
