Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Arrhythmogenic right ventricular cardiomyopathy (ARVC) is one of the leading causes of sudden cardiac death. Recent studies have shown that ARVC, which is an inheritable genetic change, results from mutations in genes encoding desmosomal proteins. Plakophilin-2 is an important component of the desmosome. Because the full range of genetic variations related to ARVC is unknown and no related studies of the Chinese population have been reported, we aimed to investigate the genetic variation of plakophilin-2 in ARVC patients from the Southern Region of China.</p><p><b>METHODS</b>Genomic DNA was isolated from peripheral blood samples of all 34 ARVC patients, who were screened through a clinical evaluation. They were used to detect variations in the sequences of the plakophilin-2 genes by polymerase chain reaction amplification in combination with direct sequencing.</p><p><b>RESULTS</b>In exon-1 of the plakophilin-2 gene, a deletion mutation (c.145_148 del GACA) was found in one family pedigree. The mutation was also found in exon-2, 4, and 11 of the plakophilin-2 gene. The QT interval dispersion of the ECG was considerably longer in the mutation group than in the non-mutation group of ARVC patients, and this result was statistically significant (P < 0.05).</p><p><b>CONCLUSION</b>We discovered a plakophilin-2 mutation that prolongs the QT interval dispersion in the southern Chinese ARVC population.</p>

Thoracic aorta echocardiographic features of patients with bicuspid aortic valve / 中华心血管病杂志

<p><b>OBJECTIVE</b>To observe the thoracic aorta features in patients with bicuspid aortic valve (BAV) with echocardiography.</p><p><b>METHODS</b>We retrospectively analyzed the echocardiographic features and clinical manifestations in 273 patients with BAV detected from 1991-04 to 2006-02.</p><p><b>RESULTS</b>(1) Aortic dimensions of the anulus, the sinuses of valsalva, the sinotubular junction, the ascending aorta at the level of its largest diameter of 31 patients with functionally normal BAV were significantly increased compared that in control subjects (P < 0.01 to P < 0.001) while the dimension of the descending aorta posterior to the left atrium was similar between the two groups (P > 0.05). (2) There is no relation between the vulval positions of BAV and aortic dimensions (P > 0.05). (3) The dimensions of the annulus as well as the sinuses of valsalva were negatively related to the aortic valve gradient, and the dimension of the annulus, the sinuses of valsalva and sinotubular junction were positively related to the degree of aortic regurgitation in 273 patients with BAV (all P < 0.05).</p><p><b>CONCLUSION</b>Our results show there is a hemodynamic independent thoracic aortic dilation in patients with functionally normal BAV. Gradient and aortic regurgitation are related to the dimension of the annulus, the sinuses of valsalva and sinotubular junction in patients with BAV.</p>