1,721,153 research outputs found
Heterotaxy with left atrial isomerism in a patient with deletion 18p
No full textWe report on a female infant with partial deletion of the short arm of chromosome 18 (del 18p) and heterotaxy with left atrial isomerism, Congenital heart defect (CHD) is found in 10% of the literature reports. Interestingly, situs abnormalities have been diagnosed in four patients with del 18p, including ours. This finding could imply that a locus or loci involved in the development of normal body situs lies within this chromosomal region. Del 18p must be considered when evaluating a patient with phenotypic anomalies and CHD in lateralization defects. (C) 2000 Wiley-Liss, Inc
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal
No full textObjective: To report the relative prevalence of various forms of congenital heart disease (CHD) in children with Noonan syndrome (NS) and to describe anatomic characteristics of the subgroup of patients with atrioventricular canal (AVC). Study design: Phenotypic and cardiologic examinations were performed in 136 patients with NS and CHD evaluated at our hospital from January 1986 to December 1998. Cardiac evaluation included chest x-ray film, electrocardiogram, 2-dimensional and color Doppler echocardiography, cardiac catheterization with angiocardiography, and cardiac surgery. Results: The CHDs classically reported in NS, including pulmonary stenosis (39%), hypertrophic cardiomyopathy (10%), atrial septal defect (8%), and tetralogy of Fallot (4%), are well represented in our series; however, aortic coarctation (9%) and anomalies of the mitral valve (6%) may also occur in this syndrome. Moreover, AVC was diagnosed in 21 patients, representing 15% of all CHDs in our series. All patients showed a partial form of AVC, and an associated subaortic stenosis caused by additional anomalies of the mitral valve was detected in 5 of 21 (23.8%) of those patients. Conclusion: Left- sided lesions, such as aortic coarctation and anomalies of the mitral valve, are not rare in patients with NS and CHD. Moreover, in this syndrome AVC is quite frequent, the partial form is prevalent, and subaortic stenosis caused by additional anomalies of the mitral valve may be present. This information should be taken into consideration during the cardiologic evaluation of children with NS
Congenital heart defects in Kabuki syndrome
No full textKabuki makeup (Niikawa-Kuroki) syndrome (KS) is characterized by distinct facial anomalies, mental retardation, congenital heart defect (CHD), and skeletal malformations. In the present study we analyze cardiac characteristics and differences in sex prevalence of specific CHDs in our series of patients with KS and review published reports from the literature. Between January 1992 and February 2000, 60 patients (37 males and 23 females) with KS underwent phenotypic and cardiac evaluations at our hospital. CHD was diagnosed in 35 (58%) of our patients. Aortic coarctation (COA) (23%), atrial septal defect (ASD) (20%), and ventricular septal defect (VSD) (17%) were the most frequent CHDs in our series and in previous reports from the literature. Male preponderance was noted in patients with COA. In conclusion, CHD is a cardinal feature of KS. There is an overlap between cardiac malformations of KS and those of Turner syndrome. Male preponderance in patients with KS and COA supports the hypothesis that genes located on the X chromosome may be involved in determining KS in some patients. The high prevalence of CHD prompts accurate reexamination of patients evaluated by pediatric cardiologists in order to identify mild and still unrecognized cases of KS. © 2001 Wiley-Liss, Inc
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: Postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia
No full textBACKGROUND: RSH/Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias, congenital heart defect (CHD), postaxial polydactyly, and 2-3 toe syndactyly. CHD is found in half of the propositi, and a specific association with atrioventricular canal defect (AVCD) and anomalous pulmonary venous return has been demonstrated. METHODS: We report on an additional patient with RSH/SLOS presenting with complete AVCD and anomalous pulmonary venous return, and discuss the possible relationship of the Sonic Hedgehog (SHH) pathway as causative factor of these CHDs and those in heterotaxia patients with postaxial polydactyly syndromes. RESULTS: Anatomic similarities between heterotaxia and CHDs of several syndromes with postaxial polydactyly have been noted previously, considering the frequent association of AVCD with common atrium in these conditions. It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway. Cholesterol has a critical role in the formation of normally active hedgehog proteins. It could be hypothesized that specific types of CHDs in RSH/SLOS can be caused by modifications of the SHH protein related to the defect of cholesterol biosynthesis. CONCLUSIONS: The specific association of AVCD and anomalous pulmonary venous return in patients with RSH/SLOS and the finding of AVCD ± common atrium in several syndromes with polydactyly leads to the hypothesis that heterotaxia due to SHH anomalies could be involved in a large spectrum of conditions. Perturbations in different components of the SHH pathway could lead to several developmental errors presenting with partially overlapping clinical manifestations. © 2003 Wiley-Liss, Inc
22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system
No full textThe morphology and molecular genetics of the 22q11 deletion syndrome cardiovascular anomalies are reviewed. Special emphasis is given to TBX1, recently identified and considered to be the potential key gene for this clinical syndrome. The TBX1 downstream molecular pathways modulating the normal development of the pharyngeal apparatus are also discussed, and emphasis is given to the possible, equally fundamental role of downstream molecular pathway disruption in causing the clinical 22q11 deletion phenotype features. J Cardiovasc Med 7:77-85 (C) 2006 Italian Federation of Cardiology
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome)
Get PDFDeletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is
characterized by congenital heart defect (CHD), palatal anomalies, facial
dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning
disabilities. CHD is present in 75% of patients with Del22. The most frequently seen
cardiac malformations are “conotruncal” defects, including tetralogy of Fallot (TF),
pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA),
interrupted aortic arch (IAA), and ventricular septal defect (VSD). The study of the
specific “cardiac phenotype” in patients with Del22 shows that a particular cardiac
anatomy can be identied in these subjects. In addition to CHD, various organ
systems can be involved, so that a multidisciplinary approach is needed in the
evaluation of patients with Del22.peer-reviewe
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