Smith-Magenis syndrome (interstitial deletion of chromosome 17p) and congenital heart disease

1993 ◽  
Vol 3 (4) ◽  
pp. 441-444 ◽  
Author(s):  
Dianne N. Abuelo ◽  
Robert D. Corwin
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Interstitial Deletion ◽  
Chromosome 17 ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
The Common ◽  
Pulmonary Valvar Stenosis ◽  
Specific Deletion

SummaryA syndrome with characteristic facial and skeletal features resulting from a specific deletion of material on the short arm of chromosome 17 was first described by Smith et al in 1982.1 The common findings are brachycephaly, hypoplasia of the middle face, and short broad hands associated with mental retardation. More than 50 cases have been reported, and about one third have congenital heart disease. We report here a patient with atrial and ventricular septal defects together with pulmonary valvar stenosis.

The Italian Multicentric Study on Epidemiology of Congenital Heart Disease: first step of the analysis

1999 ◽  
Vol 9 (3) ◽  
pp. 291-299 ◽  
Author(s):  
Giuliano Bosi ◽  
Marco Scorrano ◽  
Giovanna Tosato ◽  
Elena Forini ◽  
Roxana Chakrokh ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Familial Aggregation ◽  
Pulmonary Atresia ◽  
Multicentric Study ◽  
Septal Defects ◽  
Total Prevalence ◽  
Pulmonary Valvar Stenosis

AbstractWe present the aims, methodology and initial results from the Italian Multicentric Study for the registration and follow-up of congenital heart disease. The general aims are to measure the prevalence of congenital heart disease in different geographic areas of Italy, and to assess the survival and outcome of affected babies. During the years 1992 and 1993, eighteen centers for Pediatric Cardiology spread all over the Country enrolled 1445 new babies with congenital cardiac malformations from a population of 341, 647 surveyed livebirths. The new cases were registered using the same methodologic criterions of the EUROCAT study in order to evaluate differences and/or similarities between the studies. The prevalence varied between 1.8‰ and 8.1‰; the average being 4.6%. The large range in prevalence is presumed to be related to different customs and hierarchies in flow and referral of patients. We provide total prevalence of individual lesions, and distribution of sentinel cardiac anomalies, in the Italian study and compare them with EUROCAT. Isolated ventricular septal defect is the most common lesion (39%); followed by atrial septal defect (7.5%); pulmonary valvar stenosis (7.3%); atrioventricular septal defects (5.4%); patency of the arterial duct (3.8%); complete transposition (3.7%); tetralogy of Fallot (3.3%); aortic coarctation (2.4%); aortic valvar stenosis (2.2%); and left heart hypoplasia (1.8%). The echographic stratification of ventricular and atrial septal defects, by location and size, was in keeping with the findings of the EUROCAT study. Because of the recent widespread availability of color-Doppler tecniques, the stratification of aortic and pulmonary valvar stenosis was an innovative approach in our study. Among the complex cardiovascular anomalies, double inlet ventricle and pulmonary atresia had a proportion of about 2% each; with double outlet right ventricle, common arterial trunk, Ebstein's malformation, tricuspid atresia, interrupted aortic arch and totally anomalous pulmonary venous connection having a proportion ranging from 0.5 to 0.8%. We discuss clinical features, such as frequency of extracardiac anomalies and familial aggregation of congenital heart disease, in comparison with the EUROCAT data.

Congenital heart disease in 37,294 births in Tunisia: birth prevalence and mortality rate

2013 ◽  
Vol 24 (5) ◽  
pp. 866-871 ◽  
Author(s):  
Dorra Abid ◽  
Anis Elloumi ◽  
Leila Abid ◽  
Souad Mallek ◽  
Hajer Aloulou ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Pulmonary Atresia ◽  
Coarctation Of The Aorta ◽  
Ventricular Septal Defects ◽  
Birth Prevalence ◽  
Septal Defects

AbstractAim: To investigate the previously unknown birth incidence, treatment, and mortality of children with congenital heart disease in Tunisia. Methods: We undertook a retrospective review of medical records of all patients who were born in 2010 and 2011, and were diagnosed in Sfax (Tunisia) with congenital heart defect. Results: Among 37,294 births, 255 children were detected to have congenital heart disease, yielding a birth incidence of 6.8 per 1000. The most frequently occurring conditions were ventricular septal defects (31%), ostium secundum atrial septal defects (12.9%), and pulmonary valve abnormalities (12%). Coarctation of the aorta, tetralogy of Fallot, univentricular physiology, pulmonary atresia with ventricular septal defect, and transposition of the great arteries were found in 4.3%, 6.2%, 3.4%, 2.7%, and 2.7%, respectively. During the follow-up of 1 year, 23% of the children died. About three-quarters of those deaths happened before surgery. Conclusion: The present study is in line with the general estimates in the world. It has revealed a high case of mortality among the patients awaiting corrective surgery. These children need more facilities.

scholarly journals Congenital Heart Disease in Down Syndrome

1993 ◽  
Vol 14 (12) ◽  
pp. 488-494
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Heart Defects ◽  
Endocardial Cushion ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Endocardial Cushion Defect

Trisomy 21, Down syndrome, is one of a number of chromosomal abnormalities associated with congenital heart disease. Recent studies indicate that approximately 5% of all congenital heart defects are associated with some form of chromosomal abnormality, the majority of which are Down syndrome. Reports of the incidence of congenital heart disease in patients who have Down syndrome have varied, but it is commonly accepted to be 50%. Endocardial cushion defect and ventricular septal defects both have been reported as the "most common," but the majority of investigators accept the endocardial cushion defect as being the more frequent. The association between endocardial cushion defects and Down syndrome is so striking that when an endocardial cushion defect is diagnosed in an infant, the possibility of Down syndrome always should be considered.

Letters to the Editor

PEDIATRICS ◽  
1967 ◽  
Vol 39 (5) ◽  
pp. 794-795
Author(s):  
NORMAN J. SISSMAN
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Alternative Methods ◽  
General Factor ◽  
Ventricular Septal Defects ◽  
Letters To The Editor ◽  
Septal Defects ◽  
Surgical Teams ◽  
Methods Of Treatment

The "controversy" over treatment of infants with ventricular septal defects published in the January 1967 issue of Pediatrics prompts me to comment on one general factor, vital in decisions between alternative methods of treatment of congenital heart disease, which has received little attention in the literature—namely, the experiences and capabilities of individual surgical teams. That Dr. Nadas takes this into account is reflected in his statements, ". . . our surgeons have been able to accomplish [banding of the pulmonary artery] at a mortality rate of 10% or less . . ." and ". . . the pediatrician unless he has surgeons with exceptional ability at his disposal, will do better to . . . proceed conservatively."

Reconstruction of the aortic arch in an adolescent female with complex congenital heart disease

1994 ◽  
Vol 4 (2) ◽  
pp. 164-167
Author(s):  
Rajiv Verma ◽  
Delores Danilowicz ◽  
Stephen Colvin
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Aortic Arch ◽  
Congenital Heart ◽  
Complex Congenital Heart Disease ◽  
Adolescent Female ◽  
Ventricular Septal Defects ◽  
Postoperative Course ◽  
Septal Defects ◽  
Complete Repair

AbstractCoarctations of the aortic arch are rare, and when found, they are often associated with other complex congenital heart disease. An adolescent female with multiple coarctations of the aortic arch and ventricular septal defects underwent complete repair, entailing replacement of the aortic arch with a homograft and closure of the ventricular septal defects. The postoperative course was complicated by a tear in the homograft, possibly related to sepsis. After its resolution, her hemodynamic results remain excellent.

Congenital heart disease

2020 ◽  
pp. 743-790
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Ductus Arteriosus ◽  
Vena Cava ◽  
Ventricular Septal Defects ◽  
Segmental Analysis ◽  
Septal Defects ◽  
Atrial Septal Defects ◽  
Ventricular Outflow Obstruction

This chapter deals with the role of echocardiography in congenital heart disease. It covers views and findings, sequential segmental analysis, atrial septal defects and patent foramen ovale, atrial septal defects, ventricular septal defects, assessment of ventricular septal defects, left ventricular outflow and inflow obstruction, right ventricular outflow obstruction, transposition of the great arteries, persistent left superior vena cava, anomalous pulmonary drainage, tetralogy of Fallot, truncus arteriosus, double outlet right ventricle, single ventricle, surgical correction of congenital heart disease, Ebstein’s anomaly, patent ductus arteriosus, aortic coarctation, sinus of Valsalva aneurysm, Marfan syndrome, and congenital pericardial disease

Juvenile Rheumatic Mitral Stenosis with Multiple Ventricular Septal Defects

2007 ◽  
Vol 15 (5) ◽  
pp. 432-434 ◽  
Author(s):  
Cheemalapati Sai Krishna ◽  
Vedangi Ramesh Babu ◽  
Kanteti Ram Mohan ◽  
Dibya K Baruah ◽  
Palli V Naresh Kumar
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Mitral Stenosis ◽  
Congenital Heart ◽  
Careful Examination ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Rheumatic Mitral Stenosis ◽  
Immune Mediated ◽  
Pulmonary Arterial

Congenital heart disease is related to events occurring in the embryonal stage, while rheumatic heart disease is a sequela of immune-mediated damage following streptococcal infection. We report an unusual association of multiple ventricular septal defects and severe pulmonary arterial hypertension with rheumatic mitral stenosis in a 7-year-old girl. This case highlights the need for careful examination for coexisting rheumatic disease in late presentations of congenital heart disease.

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