ABSTRACT
BACKGROUND: Partially unroofed coronary sinus (PUCS) is a rare congenital cardiac anomaly and prone to be misdiagnosed. The purpose of this study was to explore the value of transesophageal echocardiography (TEE) in CS imaging for the detection of PUCS and to develop a special two-dimensional TEE-based en face view of CS. METHODS: Twenty adult patients with suspected PUCS, showing a dilated coronary sinus and an enlarged right heart on transthoracic echocardiography (TTE), underwent TEE examination. In the mid-esophageal plane and close to an angle of 120°, the en face view of the CS successfully imaged the roof of the CS, which was beyond the realm of the atrial septum, and the interatrial septum was obtained simultaneously in the same view. Meanwhile, the 3D zoom mode could clearly display the comprehensive volume image and the adjacent structures of the PUCS. The results of TEE were compared with the findings of surgery or catheterization. RESULTS: En face view of the CS was obtained successfully by 2DTEE in 20 patients. In addition, 3DTEE was used for imaging of PUCS in 11 of the 20 patients. PUCS was ultimately confirmed in 13 patients either by surgery or catheterization. The TEE for PUCS diagnosis was consistent with the surgical findings. CONCLUSION: Transesophageal echocardiography can be successfully applied to obtain the comprehensive view of CS and its surrounding structures. The en face view of CS provided by 2DTEE may be helpful in better understanding PUCS and discriminating it from associated atrial septal defects.
Subject(s)
Coronary Sinus/abnormalities , Coronary Sinus/diagnostic imaging , Coronary Vessel Anomalies/diagnostic imaging , Echocardiography, Transesophageal/methods , Heart Septal Defects, Atrial/diagnostic imaging , Adolescent , Adult , Aged , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Reproducibility of Results , Sensitivity and Specificity , Young AdultABSTRACT
BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSION: We discovered a plakophilin-2 mutation that prolongs the QT interval dispersion in the southern Chinese ARVC population.
Subject(s)
Arrhythmogenic Right Ventricular Dysplasia/genetics , Plakophilins/genetics , Adult , Asian People/genetics , Child , China , DNA Mutational Analysis , Exons/genetics , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Mutation , PedigreeABSTRACT
OBJECTIVE: To observe the thoracic aorta features in patients with bicuspid aortic valve (BAV) with echocardiography. METHODS: We retrospectively analyzed the echocardiographic features and clinical manifestations in 273 patients with BAV detected from 1991-04 to 2006-02. RESULTS: (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). CONCLUSION: 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.
