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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Various skeletal abnormalities, including chest deformity, have been reported with Turner's syndrome. We report radiologic findings of the sternum on lateral chest roentgenograms in 15 children and adolescents with Turner's syndrome, whose ages ranged between 2 weeks and 20 years. Eight had associated congenital heart disease (CHD). Twelve patients (80 percent) had various sternal abnormalities; 5 had short sternum, 3 had premature fusion of the manubrio-sternal junction, and 4 had premature fusion of the mesosternum. Five had decreased ratio of sternal body to manubrium. Three patients had two ossification centers of the manubrium. Four patients had bowing of the mesosternum; three of these had mild pectus excavatum also. In this series, children with and without CHD had similar sternal abnormalities. Although not pathognomonic, sternal abnormalities on a lateral chest roentgenogram are common skeletal abnormalities associated with Turner's syndrome and are independent of associated CHD. In our series of 15 patients, 10 had monosomy (45,X) on blood karyotype; 7 of them had associated CHD. This is the first systematic analysis of radiologic abnormalities of the sternum in Turner's syndrome and includes findings not previously reported.
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PMID:Radiologic abnormalities of the sternum in Turner's syndrome. 825 67

A girl with Turner syndrome was admitted with an acute cerebrovascular occlusive disease 15 days after mumps infection. Imaging techniques such as Doppler echocardiography, computed tomography and angiography of the heart revealed the existence of masses in both atria. Eight days after the last radiologic study the patient had an operation, but no masses were found in either atrium. It was thought that atrial thrombi, probably formed after viral infection, had broken down to form emboli and disappeared. It is proposed that the patients with congenital cardiopathy should be regularly examined after viral infections for possible intracardiac thrombus formation. If such a mass is found and the decision is to operate, the existence of the mass must be confirmed even in the operating room just before intervention.
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PMID:Disappearing intracardiac thrombi in both atria after mumps in a patient with Turner syndrome. 848 57

Refinements in cytogenetic techniques have promoted progress in understanding the role that chromosome abnormalities play in the cause of congenital heart disease. To determine if mutations at specific loci cause congenital heart disease, irrespective of the presence of other defects, and to estimate the prevalence of chromosome abnormalities in selected conotruncal cardiac defects, we reviewed retrospectively cytogenetic and clinical databases at St. Louis Children's Hospital. Patients with known 7q11.23 deletion (Williams syndrome), Ullrich-Turner syndrome (UTS), and most autosomal trisomies were excluded from this analysis. Two groups of patients were studied. Over a 6.5-year period, 57 patients with chromosomal abnormalities and congenital heart disease were identified. Of these, 37 had 22q11 deletions; 5 had abnormalities of 8p; and 15 had several other chromosome abnormalities. The prevalence of chromosome abnormalities in selected conotruncal or aortic arch defects was estimated by analysis of a subgroup of patients from a recent 22-month period. Chromosome abnormalities were present in 12% of patients with tetralogy of Fallot, 26% in tetralogy of Fallot/pulmonary atresia, 44% in interrupted aortic arch, 12% in truncus arteriosus, 5% in double outlet right ventricle, and 60% in absent pulmonary valve. We conclude that chromosome analysis should be considered in patients with certain cardiac defects. Specifically, fluorescent in situ hybridization (FISH) analysis of 22q11 is indicated in patients with conotruncal defects or interrupted aortic arch. High resolution analysis should include careful evaluation of the 8p region in patients with either conotruncal or endocardial cushion defects.
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PMID:Chromosome abnormalities in congenital heart disease. 918 69

Growth hormone (GH), probably acting indirectly through locally produced insulin-like growth factor I, stimulates myocardial hypertrophy and increases myocyte contractility. In experimental models insulin-like growth factor I appears to be a key regulator of ventricular hypertrophy. Many adults with growth hormone deficiency (GHD) have reduced left ventricular mass, a lower ejection fraction, and reduced exercise tolerance. Elevated serum lipid levels, increased visceral fat, and early atheroma formation may contribute to an increased mortality rate from cardiovascular disease in these persons, but GH replacement therapy appears to correct many of these abnormalities. GH excess (acromegaly) results in cardiac hypertrophy that can progress to cardiac failure. Treatment with octreotide at least partially reverses cardiac hypertrophy and dysfunction. GH treatment may induce beneficial cardiac hypertrophy in adults without GHD who have dilated cardiomyopathy. Significant cardiac dysfunction has not been reported in children with GHD who are treated with GH, nor have adverse cardiac effects been reported with GH in short children without GHD, including those with Turner syndrome. We now have extensive experience with the therapeutic use of GH in children with cardiac structural abnormalities (e.g., Turner and Noonan syndromes, congenital heart disease), and such use appears to be safe. Furthermore, cardiac complications of GH in children without cardiac disease are rare. Continued observation to ensure that GH therapy has no long-term effects on cardiac anatomy or function in children is necessary.
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PMID:Is growth hormone good for the heart? 925 33

The causes of intrauterine growth retardation (IUGR) are multiple, involving many different factors. Studies in humans and animals have shown that the maternal environment is the most important determinant of newborn weight, accounting for more similarity in birth weights of siblings than does genetic affinity. In addition to a direct relationship with the degree of maternal plasma volume expansion, many clinical factors are associated with IUGR. These factors include multiple gestation; fetal, genetic, and chromosomal anomalies (Down's syndrome and Turner's syndrome); infections such as TORCH syndrome (acronym for toxoplasmosis, rubella, cytomegalic disease, and herpes); and various maternal disorders including anemia, severe chronic asthma, chronic renal disease, heart disease and hypertension. Maternal stress factors, including narcotic addiction, cigarette smoking and chronic alcoholism, are associated with IUGR. Placental anomalies including hemangiomas, placental infarcts, single umbilical artery, and small placental size are also associated with intrauterine growth retardation. Poor nutritional status of the mother at conception and inadequate energy and protein intakes during pregnancy can also result in IUGR. Because IUGR children are not a homogeneous group, they have a broad spectrum of growth, health, and developmental outcomes. In general they have higher rates of subnormal growth, morbidity, and neurodevelopmental problems. The biomedical mechanisms reflected in nutritional, infection-related, hormonal, and metabolic parameters are not likely to be independent causative factors of IUGR, but important mediating factors of a pathologic process set in motion by other agents and insults. This paper focuses mainly on the possible negative effects that a deficient maternal diet might have on fetal development and growth.
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PMID:Biological mechanisms of environmentally induced causes of IUGR. 951 Oct 16

There are limited data regarding the outcome of pregnancy in women after intervention for coarctation of the aorta (CoA). The Texas Children's Hospital Cardiac Database was used to identify female patients with CoA born before 1980 who had undergone balloon angioplasty or surgery. Patients with Turner's syndrome and cyanotic congenital heart disease were excluded. A chart review and telephone interview were performed. Data collected included age at intervention, type of intervention, the need for reintervention, functional status, number of pregnancies, and pregnancy outcomes. Seventy-four patients met our criteria and we were able to contact 52. Eighteen patients (39%) were pregnant a total of 36 times. There were 3 spontaneous and 4 elective abortions. Preeclampsia complicated 4 pregnancies in 3 women (17% of primigravidas). One patient had systemic hypertension. Eleven infants were delivered by Cesarean section. There were 29 births, with an average weight of 3.0 kg. There were 5 preterm births, 4 to a teenage mother. Only 1 child (3%) had a congenital heart defect. Thus, in women with an arm-to-leg blood pressure gradient of <20 mm Hg after CoA repair, pregnancy is successful. The occurrence of congenital heart disease in the offspring was 3%. Preeclampsia was similar to that in the general population.
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PMID:Outcome of pregnancy following intervention for coarctation of the aorta. 976 Oct 91

Turner's syndrome is associated with congenital heart disease in a third of cases. Several reports of aortic dilatation and of death by dissection or rupture of the aorta have been published. The authors undertook a prospective study to assess the incidence of cardiac malformations and aortic dilatation in genetically confirmed Turner's syndrome. Twenty-six out of 34 patients recalled (76%), aged 7 to 30 years (average 17 +/- 6 years) accepted their inclusion in this study and underwent clinical examination, ECG, chest X-ray and echocardiography. Thirteen patients had a monosomy 45X and 13 a mosaic or structural abnormality. Six had a history of cardiovascular disease (operated coarctation: 2 cases, kinking: 2 cases, Hypertension: 2 cases). Eight patients (30%) had one or several anatomical cardiovascular abnormalities: bicuspid aortic valve (19.2%), abnormalities of the aortic isthmus (kinking or coarctation) (15.4%), aortic regurgitation (7.7%), mitral stenosis (3.8%), partial anomalous venous drainage (3.8%), patent ductus arteriosus (3.8%) and left superior vena cava (11.5%). Systematic evaluation of the aorta resulted in the diagnosis of dilatation of the ascending aorta in 1 case and dilatation of the sinus of Valsalva in 2 other cases. The authors conclude that echocardiographic evaluation is essential after the diagnosis of Turner's syndrome. It should be repeated regularly to detect dilatation of the aorta which carries the risk of serious complications, such as rupture or dissection of the aorta.
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PMID:[Heart malformations and vascular complications associated with Turner's syndrome. Prospective study of 26 patients]. 1085 54

Fetal cardiology includes the assessment of the fetal heart for congenital heart disease (CHD) and arrhythmias, the management of affected fetuses, including parental counselling for the therapeutic options, the planning of the delivery and the postnatal care. This requires a close collaboration between obstetricians, neonatologists and pediatric cardiologists. Because of restricted financial sources extensive fetal echocardiographic assessment is reserved for pregnancies with increased risk for CHD, which includes a family history of CHD, suspicion of a cardiac or extracardiac fetal abnormalities at obstetric routine ultrasonography, fetal arrhythmias and chromosomal anomalies. Since most CHD occur in pregnancies without increased risk an ultrasound screening of the fetal heart during routine pregnancy ultrasound is recommended. Most forms of CHD can potentially be detected in utero, especially the severe ones with considerable fetal and postnatal morbidity and mortality. The prenatal diagnosis of a major cardiac malformation requires further assessments for extracardiac and chromosomal disorders. The deliveries of patients with major cardiac anomalies in a tertiary obstetric center close to a pediatric cardiac facility allows optimal perinatal and postnatal management. This may be of crucial importance for cardiac malformations which are arterial duct dependent postnatally. Many CHD have genetic causes. Well established is the association of CHD and the trisomies 13, 18 and 21, as well as the monosomy XO (Turner syndrome). During the last years more and more molecular genetic causes for CHD could be demonstrated. The most significant one is the microdeletion 22q11 syndrome (CATCH 22 syndrome), which is associated with different conotruncal anomalies. Also for various other congenital cardiac malformations and syndromes a genetic cause could be demonstrated. The search for genetic cofactors is important as it affects parental counselling and patient care.
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PMID:[Fetal and genetic aspects of congenital heart disease]. 1123 53

Nonimmune hydrops fetalis (NIHF) is used to describe fetuses and newborns with generalized edema and cavity effusions. It is helpful to alert physicians about the presence of anemia, heart failure, and/or hypoproteinemia, but this diagnosis is frequently overlooked. We reviewed the autopsy files from 1990 to 2000, selected all cases with NIHF including clinical information (with maternal laboratory tests and ultrasound), and classified patients by etiology. Among 840 stillborn autopsies during the 11-year period, we found 51 with NIHF (6.07%). The clinical summary had mentioned hydrops in 14 patients and the etiology in another 7 by fetal ultrasonography, but without addressing the possibility of hydrops. In the remaining 30 cases neither hydrops nor an etiology was mentioned. Other pertinent diagnoses were maternal diabetes mellitus (4), congenital heart disease (3), and cystic hygroma (2). The following diagnoses were made in one instance each: cardiac tumor, twin transfusion syndrome, congenital adenomatoid malformation, syphilis, Turner syndrome, and cerebral arteriovenous malformation. Postmortem and placental examination confirmed the following etiologies: congenital infections (17); placental pathology significant enough to explain NIHF (10); cardiovascular diseases (8) (further classified as congenital heart disease [3], rhabdomyoma [1], and vascular malformations [4]); chromosomal abnormalities (6); uncontrolled maternal diabetes (4); intrathoracic lesions (2); prune-belly syndrome (2); and idiopathic NIHF (2). Only 3.9% of the cases studied had no identifiable etiology. The cause of hydrops was confirmed by autopsy in 47 fetuses (92%), which further supports the importance of performing an autopsy. Thirty-two cases (62.74%) had placental abnormalities helpful to the etiology (parvovirus, syphilis, Turner's syndrome, etc.). In 20 instances, the clinical summary had no mention of either hydrops or any of the diseases leading to it. The autopsy in conjunction with placental examination and fetal ultrasound represent the best combination to determine the etiology of NIHF among stillborn fetuses.
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PMID:Value of autopsy in nonimmune hydrops fetalis: series of 51 stillborn fetuses. 1201 30

Management of the chromosomal condition Turner's syndrome requires consistent medical care, especially during the time when affected girls transition from childhood into adulthood. The medical problems that first develop during childhood of a patient with Turner's syndrome such as congenital heart disease, hearing loss, skeletal problems and dental and ophthalmological abnormalities, should be followed into adulthood. Providing the necessary continuum of care will require that medical centers develop teams with the appropriate expertise in treatment of Turner's syndrome. Now more than ever patients with Turner's syndrome have the capability of achieving their full potential, but it requires a multidisciplinary approach toward care throughout their lifetime.
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PMID:Transition in Turner's syndrome. 1513 82


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