News archive
November 3, 2009.
Barahona-Dussault et al. described the results of genetic testing in ARVD/C patients from a sincle center. Their results include several novel mutations and the analysis of polymorphisms in the 23 probands. See article details
October 19, 2009.
A manuscript on multiple mutations in desmosomal proteins encoding genes in ARVD/C by Bauce et al. was added to the database. These results were previously presented by Beffagna et al. at the 2008 congress of the European Society of Cardiology.
See article details
October 5, 2009.
An abstract presented by De Bortoli et al. at the ESC Congress 2009 in Barcelona was added to the database. They screened for DSC2 mutations in 110 ARVD/C probands and evaluated possible mutations by immunostaining transfected murine cardiomyocytes and examining the expression pattern of the different DSC2 splice forms.
See article details
October 1, 2009.
Since the launch of www.arvcdatabase.info, one year ago, the website had over 35,000 page loads from 3,700 unique visitors. Currently, the database contains 575 unique variants.
September 10, 2009.
A report on the clinical characteristics and the spectrum of PKP2 mutations in patients from South Africa by Watkins et al. was added to the database. The results include 4 novel mutations.
See article details
August 31, 2009.
Krahn et al. found mutations in two ARVD/C patients who survived cardiac arrest, including a novel one in DSP.
See article details
July 30, 2009.
Pilichou et al. studied the explanted heart of a proband carrying the DSG2 N266S mutation as well as transgenic mice with cardiac overexpression of the mouse equivalent of this mutation. They demonstrated for the first time that myocyte necrosis is the key initiator of myocardial injury, triggering progressive myocardial damage, including an inflammatory response and massive calcification within the myocardium, followed by injury repair with fibrous tissue replacement, and myocardial atrophy.
See article details
July 28, 2009.
28 novel unpublished variants were added to the database. Currently, the database contains 136 unpublished variants, comprising about 24% of the total of 563 variants.
See details of unpublished variants
July 13, 2009.
The results of a study by Huang et al. using transfected HEK cells to assess the effects of plakoglobin (JUP) mutations was added to the database.
Both the mutations S39_K40insS and G680fsX690 increased the speed of wound healing. However, the mutations have disparate effects on cell mechanical behaviour, suggesting complex biochemical roles for plakoglobin.
See article details
June 9, 2009.
The results of a comprehensive desmosome mutation analysis in a cohort of 100 North American Caucasians with ARVD/C by den Haan et al. was added to the database. The results include 8 novel mutations.
See article details
May 15, 2009.
Another article describing 5 novel PKP2 variants found in Chinese ARVD/C patients by Qiu et al. was added to the database.
See article details
April 9, 2009.
Mutations listed in an article on cardiac magnetic resonance imaging (CMR) in family members of desmosomal mutation-carrying ARVD/C probands by Dalal et al. were added to the database. The authors describe a new morphlogic variant found on detailed CMR; a focal "crinkling" of the RV outflow tract and subtricuspid regions: the "accordion sign".
See article details
March 13, 2009.
PKP2 variants found in Chinese ARVD/C patients by Wu et al. were added to the database.
See article details
March 12, 2009.
Mutations listed in an article on immunohistochemical analysis of human myocardial samples as a diagnostic test for ARVD/C by Asimaki et al. were added to the database.
See article details
March 9, 2009.
A case report by Tanaka et al. on compound heterozygous DSP mutations in a patient with early-onset cardiomyopathy and skin and hair abnormalities was added to the database.
See article details
February 26, 2009.
The database was added to the Leiden Open Variants Database (LOVD) platform. For each variant/mutation a link to the corresponding LOVD-entry was added.
See www.lovd.nl/arvc for the full ARVD/C Genetic Variants Database at LOVD.
December 19, 2008.
The mutations reported by Sen-Chowdhry et al. found in patients with left-dominant arrhythmogenic cardiomyopathy (LDAC) were added to the database.
See article details
December 15, 2008.
The results from in silico prediction methods for reported missense mutations have been added. For details see 'General Remarks'.
December 1, 2008.
Following the letter by Posch et al. and their paper mentioned below, the desmoglein-2 (DSG2) mutations V158G and V920G are now classified as polymorphisms. Because V56M might represent a susceptibility variation it is classified as an unclassified variant.
November 6, 2008.
The paper by Posch et al. concerning a missense variant in desmoglein-2 (DSG2) V56M, predisposing to dilated cardiomyopathy, including several polymorphisms in desmoglein-2 (DSG2) and desmocollin-2 (DSC2), was added.
October 12, 2008.
Following the letter from Milting and Klauke regarding the desmoglein-2 (DSG2) E713K mutation and the authors' response from Judge, the DSG2 E713K mutation is now classified as a polymorphism.