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1.
Chinese Journal of Cardiology ; (12): 631-635, 2011.
Article in Chinese | WPRIM | ID: wpr-272189

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the relationship between 22q11 microdeletion syndrome and congenital heart disease.</p><p><b>METHODS</b>Clinical screening assessment and genetic testing using standard fluorescence in-situ hybridization (FISH) were applied in 207 subjects suspected for 22q11 microdeletion syndrome. Patients with 22q11 microdeletion syndrome were examined by echocardiography, patients with complicated congenital heart disease were examined further by cardiac catheterization.</p><p><b>RESULTS</b>22q11 microdeletion syndrome was detected in 39 subjects. The incidence of 22q11 microdeletion syndrome was 1.6% in suspects with simple congenital heart disease without extracardiac manifestations, 53.0% in suspects with congenital heart disease combined with at least two extracardiac manifestations, 3.8% in suspects without congenital heart disease. The incidence of congenital heart disease in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 94.9% and 54.2% (P < 0.01). The incidence of congenital heart disease combined with at least two extracardiac manifestations in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 89.7% and 18.5% (P < 0.01). In 22q11 microdeletion syndrome patients, Tetralogy of Fallot was the most common type of congenital heart disease. Dysmorphic faces, learning difficulties and retarded physical development were the most common extracardiac manifestations of the congenital heart disease patients.</p><p><b>CONCLUSION</b>22q11 microdeletion syndrome is related to congenital heart disease.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 22 , Female , Heart Defects, Congenital , Genetics , Humans , In Situ Hybridization, Fluorescence , Infant , Male
2.
Yonsei Medical Journal ; : 500-502, 2008.
Article in English | WPRIM | ID: wpr-79500

ABSTRACT

We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.


Subject(s)
Child, Preschool , Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 18/genetics , Ductus Arteriosus, Patent/genetics , Humans , Karyotyping , Male , Pulmonary Valve Stenosis/genetics
3.
Chinese Journal of Cardiology ; (12): 904-907, 2007.
Article in Chinese | WPRIM | ID: wpr-299561

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the cardiovascular manifestations of Williams syndrome (WS) confirmed by fluorescence in situ hybridization (FISH).</p><p><b>METHODS</b>Between July 2004 and January 2007, FISH was used to confirm diagnosis in 71 suspected WS cases by detecting chromosome 7q microdeletion. Cardiovascular abnormalities were assessed by echocardiography and Doppler echocardiography.</p><p><b>RESULTS</b>Forty out of 71 patients were detected to have Elastin gene locus microdeletion, 25 patients (25/40, 62.5%) had at least one cardiac anomaly; among these patients, supravalvular aortic stenosis (SVAS) was diagnosed in 18 patients (18/25, 72%) and 6 of them had complex abnormalities. Patent ductus arteriosus was diagnosed in 3 patients (3/25, 12%, 1 was associated with other malformations), isolated pulmonary stenosis in 1 patient (1/25, 4%), isolated coarctation of aorta in 2 patients (2/25, 8%), and hypertension in 2 patients (2/25, 8%), mild aortic regurgitation in 2 patients, mild mitral regurgitation and moderate mitral regurgitation in 3 patients respectively.</p><p><b>CONCLUSION</b>A detailed cardiac evaluation should be performed in all patients with Williams syndrome due to the high frequency of cardiovascular abnormalities.</p>


Subject(s)
Adolescent , Adult , Aortic Stenosis, Supravalvular , Diagnosis , Cardiovascular Abnormalities , Diagnosis , Child , Child, Preschool , Female , Humans , Infant , Male , Williams Syndrome , Diagnosis , Young Adult
4.
Chinese Journal of Cardiology ; (12): 224-226, 2007.
Article in Chinese | WPRIM | ID: wpr-304934

ABSTRACT

<p><b>OBJECTIVE</b>To assess the effect of the balloon valvuloplasty for congenital valvular aortic stenosis (AS) in children.</p><p><b>METHODS</b>A total of twenty one children with AS accepted the treatment of percutaneous balloon aortic valvuloplasty (PBAV). One of them complicated with PDA underwent PDA closure by using Amplatzer occluder in the mean time. PBAV could not be accomplished in 3 cases because the catheter could not be advanced into left ventricle and PBAV was not performed in 2 cases due to the gradient pressures across aortic valves less than 50 mm Hg (1 mm Hg = 0.133 kPa). The procedure was completed in 16 cases. The ratios of balloon/valve were 0.98 +/- 0.04 (0.92 - 1.10).</p><p><b>RESULTS</b>13 cases had more than 50% gradient reduction (81.25%), 2 had 40% - 50% gradient reduction. The follow up period ranged from 3 months to 5 years. The gradient pressures rose to more than 50 mm Hg after follow up in 3 cases and they underwent repeat balloon valvuloplasty procedure or were operated successfully. There was no moderate to severe aortic insufficiency (AI).</p><p><b>CONCLUSION</b>The result of balloon aortic valvuloplasty showed the significant hemodynamic improvement with relative safety in pediatric patients. PBAV provides another choice in comparison with surgery.</p>


Subject(s)
Adolescent , Aortic Valve Stenosis , Therapeutics , Catheterization , Methods , Child , Child, Preschool , Female , Humans , Infant , Male
5.
Article in Chinese | WPRIM | ID: wpr-247334

ABSTRACT

<p><b>OBJECTIVE</b>To investigate clinical features and the diagnosis by fluorescence in situ hybridization (FISH) of 22q11 microdeletion syndrome (22q11 DS).</p><p><b>METHODS</b>The clinical data of suspects were analyzed, and their peripheral blood samples were tested by FISH for microdeletion of 22q11. The diagnosis and correlated clinical factors of 22q11 DS were investigated by using the multiple factor Logistic regression analysis and Chi-square test.</p><p><b>RESULTS</b>In 64 suspects, 14 were shown to have 22q11 microdeletion with many different types of malformation, and the percentage was 21.9%. The Logistic regression predictive equation for 22q11 DS was: y=-8.206+2.324x1+2.725x2+1.674x3, P=exp(y)/[1+exp(y)], in which the concomit ant variables were facial dysmorphic features (x1), congenital heart defects (x2), thymus scarcity/infection problem (x3), the P value meant the probability of diagnosis of 22q11 DS.</p><p><b>CONCLUSION</b>Accurate clinical evaluation is just as preliminary screening to patients at risk for del22q11. The results of FISH test can be predicted by using the suitable Logistic regression equation.</p>


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 22 , Genetics , DiGeorge Syndrome , Diagnosis , Genetics , Pathology , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Logistic Models , Male
6.
Yonsei Medical Journal ; : 412-420, 2007.
Article in English | WPRIM | ID: wpr-71500

ABSTRACT

PURPOSE: To evaluate social adjustment and related factors among Chinese children with Down syndrome (DS). PATIENTS AND METHODS: A structured interview and Peabody Picture Vocabulary Test (PPVT) were conducted with a group of 36 DS children with a mean age of 106.28 months, a group of 30 normally-developing children matched for mental age (MA) and a group of 40 normally-developing children matched for chronological age (CA). Mean scores of social adjustment were compared between the three groups, and partial correlations and stepwise multiple regression models were used to further explore related factors. RESULTS: There was no difference between the DS group and the MA group in terms of communication skills. However, the DS group scored much better than the MA group in self-dependence, locomotion, work skills, socialization and self-management. Children in the CA group achieved significantly higher scores in all aspects of social adjustment than the DS children. Partial correlations indicate a relationship between social adjustment and the PPVT raw score and also between social adjustment and age (significant r ranging between 0.24 and 0.92). A stepwise linear regression analysis showed that family structure was the main predictor of social adjustment. Newborn history was also a predictor of work skills, communication, socialization and self-management. Parental education was found to account for 8% of self-dependence. Maternal education explained 6% of the variation in locomotion. CONCLUSION: Although limited by the small sample size, these results indicate that Chinese DS children have better social adjustment skills when compared to their mental-age-matched normally-developing peers, but that the Chinese DS children showed aspects of adaptive development that differed from Western DS children. Analyses of factors related to social adjustment suggest that effective early intervention may improve social adaptability.


Subject(s)
Adolescent , Asian Continental Ancestry Group/psychology , Child , Child, Preschool , China , Communication , Down Syndrome/ethnology , Female , Humans , Male , Social Adjustment , Socioeconomic Factors
7.
Article in Chinese | WPRIM | ID: wpr-271589

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the efficacy and safety of transcatheter closure of perimembranous ventricular septal defects (VSD) in children following transthoracic echocardiography (TTE).</p><p><b>METHODS</b>From September 2002 to December 2005, eighty-nine children (47 males and 42 females) with perimembranous (VSD) underwent an attempt of transcatheter interventional occlusion. Among the 89 children, one of them was diagnosed with patent ductus arterious (PDA) and six with VSD leakage after the surgical repair (three with leakage after the surgical repair of tetralogy of Fallot and three with leakage after the surgical repair of VSD). The mean age of patients was (6.4 +/- 3.9) years (ranged from 1 to 18 years). The mean body weight of patients was (22 +/- 11 )kg (ranged from 9 to 78 kg). The mean diameter of VSD measured by TTE was (4.3 +/- 1.5) mm(ranged from 2 to 8.5mm). The path of artery to vein was established following X-rays and TTE. Occluder was released through the right heart system. All patients were followed up in 1, 3, 6 and 12 months after procedure of TTE, X-ray and electrocardiography.</p><p><b>RESULT</b>The devices were deployed successfully in 85 patients, the rate of success was 95.5%. No death occurred during and after the procedure. There was trivial residual shunt in 12 patients immediately after the closure by TTE and angiography. Twenty-four hours later, only 3 patients had trivial residual and no shunt existed after 6 months follow-up. Convulsion occurred in 1 case due to serious cardiac arrhythmias. Hemolysis was found in 2 cases. Other complications included 2 cases of complete left bundle branch block, 1 cases of left anterior fascicular block and 3 cases of incomplete right bundle branch block. They recovered after 3 to 7 days of corticosteroid treatment. After 1 to 36 months (mean 9 months) follow-up, none of occluders displacement occurred and no valve was involved.</p><p><b>CONCLUSION</b>Transcatheter closure of membranous VSD using occluder would be safe and effective for children, and the results of short-term was satisfied. Transcatheter closure of VSD following TTE is a feasible method. TTE has the potential benefit of avoiding general anesthesia and esophageal intubation in children.</p>


Subject(s)
Adolescent , Cardiac Catheterization , Methods , Cardiovascular Surgical Procedures , Methods , Child , Child, Preschool , Female , Heart Septal Defects, Ventricular , Diagnostic Imaging , General Surgery , Humans , Infant , Male , Prostheses and Implants , Prosthesis Implantation , Methods , Treatment Outcome , Ultrasonography, Interventional
8.
Article in Chinese | WPRIM | ID: wpr-332149

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the methods of interventional catheterization for combined congenital heart disease and to evaluate its efficacy in children.</p><p><b>METHODS</b>From March 1994 to December 2003, 15 cases (6 boys, 9 girls) underwent transcatheter intervention for combined congenital heart diseases. The procedure of transcatheter intervention was as follows: for pulmonary stenosis (PS) and atrial septal defect (ASD) or patent ductus arteriosus (PDA), PBPV first, occlusion of ASD or PDA later; for coarctation of aorta (COA) and PDA, dilation of COA first, occlusion of PDA 4-15 months later; for aortic stenosis (AS) and PDA, PBAV first, occlusion of PDA later; for ventricular septal defect (VSD) and PDA, all occlusions with detachable coils.</p><p><b>RESULT</b>Transcatheter intervention for combined congenital heart diseases was successful in all patients. There was no residual shunt after occlusion immediately apart from 2 cases of PDA which were little residual after occlusion immediately. Follow-up for (3.57 +/-2.61) years, the systolic pressure gradients across pulmonary valve and coarctation were normal by ultrasonic or transcatheter, except AS. There was 3 cases presented postoperative complications: 1 with mechanical haemolysis, 1 with fall off of coil and 1 with arterial embolism, respectively.</p><p><b>CONCLUSION</b>Transcatheter intervention for combined congenital heart diseases could obtain satisfactory results with appropriate indications and procedure manipulations.</p>


Subject(s)
Abnormalities, Multiple , General Surgery , Cardiac Catheterization , Catheterization , Child , Child, Preschool , Ductus Arteriosus, Patent , General Surgery , Female , Follow-Up Studies , Heart Defects, Congenital , General Surgery , Heart Septal Defects, Atrial , General Surgery , Heart Septal Defects, Ventricular , General Surgery , Humans , Infant , Male , Pulmonary Valve Stenosis , General Surgery
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