Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An isochromosome for the long arm of chromosome number 18 - 46,XY,i(18q) - was found in an infant who had features of both trisomy 18 and 18p- syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker-bottom feet. Those of 18p- syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely-spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.
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PMID:Features of trisomy 18 and 18p- syndromes in an infant with 45,XY,i(18q). 48 37

Noonan syndrome is a genetic condition inherited in an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic features of Turner's syndrome, but a normal Karyotype. The ophthalmological and orthoptic findings on 58 patients with Noonan syndrome are reported. External features were hypertelorism (74%), downward sloping palpebral apertures (38%), epicanthic folds (39%) and ptosis (48%). The orthoptic examination revealed strabismus in 48%, refractive errors in 61%, amblyopia in 33%, and nystagmus in 9% of cases. Sixty-three per cent of cases had anterior segment changes consisting of: Prominent corneal nerves (46%), anterior stromal dystrophy (4%), cataracts (8%) and panuveitis (2%). Fundal changes occurred in 20% of the study group, including optic nerve head drusen, optic disc hypoplasia, colobomas and myelinated nerves. Forty-seven per cent required non surgical treatment and a further 16% had undergone surgery for strabismus or ptosis. Only three patients had no visual defects. With such a high incidence of ophthalmic abnormalities it is clearly important that children with Noonan syndrome are screened by an ophthalmologist at an early age.
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PMID:Ocular manifestations of Noonan syndrome. 144 72

Turner's syndrome has well-described associations with congenital heart disease. Up to one third of patients with karyotype 45,X may have coarctation of the aorta. In addition, patients with hypertrophic cardiomyopathy, septal defects, dextrocardia, and anomalous pulmonary venous drainage have been reported anecdotally. Twenty-one consecutive patients with Turner's syndrome were prospectively evaluated. All patients underwent examination by a pediatric cardiologist, electrocardiogram, chest radiograph, and echocardiogram. Three patients with evidence of right ventricular volume overload had cardiac catheterization. Of 12 patients with karyotype 45,X 3 had partial anomalous pulmonary venous drainage with intact atrial septum. One of the 3 also had moderate aortic stenosis. Two additional patients with 45,X had coarctation of the aorta and bicuspid aortic valve, and 4 other patients had minor cardiac defects. Of 9 patients with mosaic karyotype, 1 had a minor cardiac defect. The observations suggest that there may be a significant association of 45,X Turner's syndrome and partial anomalous pulmonary venous drainage.
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PMID:Partial anomalous pulmonary venous drainage associated with 45,X Turner's syndrome. 202 May 31

Noonan's syndrome has a phenotype similar to Turner's syndrome, but has no chromosome abnormalities. This syndrome is frequently associated with congenital heart diseases, particularly valvular pulmonary stenosis. Three patients of Noonan's syndrome with congenital heart disease were successfully operated upon. Diagnostic criteria, frequency of anomalies and the association of cardiac malformations have been discussed together with special surgical points of view.
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PMID:[Noonan's syndrome associated with cardiovascular anomalies; report of three cases]. 272 30

Congenital heart disease is a frequent feature of Turner syndrome. Although the most frequent cardiac lesion is coarctation of the aorta, a spectrum of cardiac defects occurs which is limited almost exclusively to defects associated with decreased blood flow through the left heart. We report the results of gross anatomic and microscopic dissection of 12 fetuses aborted between 16 and 26 weeks' gestation, with the classic Turner phenotype of nuchal cystic hygromas, hydrops fetalis, and female genitalia. Eight fetuses showed a consistent constellation of cardiac defects: diminution of the ascending aorta, large pulmonary artery ranging from 1 1/2 to three times the size of the aorta, large patent ductus arteriosus, and juxtaductal coarctation. Another fetus had hypoplastic left heart and aortic atresia. The remaining three fetuses had normal cardiac anatomy. The lymphatic vessels at the base of the great vessels were carefully examined in nine of the fetuses. Although there was no definite correlation between the degree of cardiac pathology and the extent of lymphatic aberrations at the base of the heart at the time of postmortem examination, the high incidence (75%) of left-sided flow defects among these fetuses, all of whom had large hygromas and severe edema, supports the hypothesis that there is a pathogenetic relationship between lymphatic obstruction and congenital heart disease in the 45,X Turner fetus.
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PMID:Coarctation of the aorta in Turner syndrome: a pathologic study of fetuses with nuchal cystic hygromas, hydrops fetalis, and female genitalia. 334 89

In a prospective study of 156 female patients with Turner's syndrome who had survived infancy and been followed up for an average of 17 years there were 15 deaths. The expected mortality was 3.6. Sixteen of the patients had a congenital heart anomaly and five of the deaths occurred in this group. The 10 deaths in the remaining 140 were three times as many as expected. The reduction in life expectation was 12.5 years at age 1 year, 11 years at age 20, and 10 years at age 40. Deaths were due to a broad spectrum of diseases. In the sample as a whole there were eight deaths from diseases of the circulatory system. This number is significantly greater than expected, but four were due to congenital heart disease. When patients with congenital heart disease were omitted from the sample the mortality from circulatory disorders was not significantly increased. Within the category of circulatory disorders there were three deaths from dissection of the aorta, a number which is greatly in excess of the expected. Two of these patients had no previous evidence of heart disease.
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PMID:Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome. 374 85

This study explores the association between neck web and congenital heart disease in patients with Turner syndrome. Of 193 cases with documented 45 X-O karyotype, 106 (55%) had a web neck and 87 (45%) had a normal neck. The incidence of congenital heart disease was significantly different between these two groups, occurring in 30% of those with web neck and 9% of those with normal neck (x2 = 12.82, P less than .0005). The difference was most striking in coarctation of the aorta for which the prevalence was 25% with web neck and 3% with normal neck (X2 = 17.65, P less than .0001). The association between web neck and congenital heart disease suggests a pathogenic relationship exists between the two. The following hypothesis is proposed to explain the association. Increased lymphatic pressure associated with jugular lymphatic sac obstruction distends the thoracic ducts, which compress the ascending aorta altering intracardiac blood flow. Redirection of intracardiac blood flow produces coarctation of the aorta and other defects in the spectrum of left heart obstruction. This proposed mechanism is an example of a teratogenic event remote from the heart, which alters cardiovascular morphology.
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PMID:Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome? 646

Three patients with Turner's Syndrome are shown; one associated with coarctation of the aorta, other with patent ductus arteriosus and the last one with congenital valvular aortic stenosis. The cytogenetic and clinical picture of the disease are reviewed, also its association with some cardiovascular malformations. The results of the surgical treatment of the congenital heart disease are reported. The difficulties to establish the operatory indication are described and besides the technical problems that occur frequently in these patients.
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PMID:[Turner's syndrome and heart surgery. Presentation of 3 clinical cases]. 724 83

The incidence of congenital heart disease appears to be about 1 per 100 liveborn infants. In infants who die before term, however, there is a much higher incidence of congenital heart disease, with a tendency for an excess of complex lesions. Some but not all of these lesions are associated with gross chromosomal abnormalities, which occur frequently in first-trimester abortions. Most of these chromosomal abnormalities are associated with such maldevelopment of many organ systems that fetal death occurs in utero. Monosomy X (45, XO), has a high association with congenital heart disease. Most fetuses with this abnormality die in utero, but because the abnormality is not inevitably lethal a small increase in survival of these fetuses would cause a large increase in the total incidence of congenital heart disease.
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PMID:Incidence of congenital heart disease: II. Prenatal incidence. 756 59

To investigate the relationship between congenital heart disease and jugular lymphatic obstruction as manifested in web neck anomaly, we used the Iowa Birth Defects Registry to determine the incidence of congenital heart defects (CHD) in infants with and without web neck. Sixty percent of infants with web neck had CHD, with a high incidence of flow-related defects such as hypoplastic left heart, coarctation, and secundum atrial septal defect. Sixty-eight percent of infants with web neck had a genetic syndrome (37% Down syndrome, 13% Ullrich-Turner syndrome, and 5% Noonan syndrome), and 24% had dysmorphic features consistent with lymphatic obstruction sequence. When infants with Down, Ullrich-Turner, and Noonan syndrome and web neck were compared to infants with the same syndrome but without web neck, those with web neck were significantly more likely to have flow-related heart defects. Infants with Ullrich-Turner syndrome and web neck had an 11-fold higher incidence of coarctation, compared to those with a normal neck. Our data suggests web neck is associated with both flow and nonflow-related heart defects. This association implies a pathogenetic relationship and appears to be independent of causal factors. The finding of web neck or nuchal cystic hygroma on a prenatal ultrasound or newborn examination should prompt a search for CHD.
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PMID:Web neck anomaly and its association with congenital heart disease. 887 Sep 31


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