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

Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are presented. Quinacrine and trypsin-Giemsa banding identified the extra chromosome as No. 22. The phenotype of these patients and the review of 15 additional similar cases from the literature permit a definition of the cardinal features of trisomy 22; mental and growth retardation, microcephaly and craniofacial asymmetry, strabismus, beaked and prominent nose, long philtrum, cleft palate, micrognathia, large low set ears with preauricular tags and/or pits, long slender fingers, congenital heart disease, inguinal hernia, and hip dislocation.
 ...
PMID:Trisomy 22. Two new cases and delineation of the phenotype. 4 27

The concentration of alpha-fetoprotein (AFP) in the amniotic fluid was studied during the last trimester of pregnancy. 129 samples of amniotic fluid were collected by transabdominal amniocentesis in 94 pregnant women. Only women with uncomplicated pregnancies giving birth to normal infants at term were included. The 90% reference interval was calculated and a distinct decrease in the amniotic fluid AFP concentration was found during the last trimester. An AFP concentration above the 90% reference interval was found in 8 out of 10 cases of anencephaly. Normal AFP concentration was found in a case of congenital heart disease with severe oedema, and a low concentration was found in a case of Down's syndrome (Trisomy 21).
 ...
PMID:Alpha-fetoprotein concentration in amniotic fluid during the last trimester in normal pregnancies and in pregnancies with severe fetal abnormalities. 5 22

Since 1970 46 infants and children with Down's Syndrome were subjected to palliation of congenital heart disease, and 54 mongoloid children underwent correction of their cardiac defects. The most common cardiac malformation was endocardial cushion defect (72%). Palliation consisted in pulmonary artery banding (PAB) with or without division of a patent ductus arteriosus (PDA) in 16 infants, and sole division of a PDA in another 16 infants with large left to right shunts due to common canalis atrioventricularis (avcanal) or ventricular septal defect (VSD). An aorto-pulmonary anastomosis was performed for relief of severe hypoxia due to right ventricular outflow tract obstruction (RVOTO) in 14 patients. Operative mortality was 41% for PAB, 21% for aortopulmonary anastomosis, anastomosis, and 0% for division of a PDA. In the group of corrective cardiac surgery the operative mortality rate was 0% in ostium primum defects and 4% in VSD closure. Correction of complete av-canal and of malformations with RVOTO had a high mortality rate of 20 and 40%, respectively. Similar results were obtained in nonmongoloid children operated upon for the same cardiac defects. The complications and causes of death were due to the complexity of the cardiac malformations and had no relation to the Down's Syndrome itself. Mongoloid children do not pose additional medical problems to management of congenital heart disease. Their results do not differ from those obtained in nonmongoloid children.
 ...
PMID:[Palliative and corrective cardiac surgery in Down's syndrome (author's transl)]. 6 15

Sixty-nine children with Down syndrome (mongolism, trisomy 21), with atrial septal defect, patent ductus arteriosus, ventricular septal defect, or endocardial cushion defects, and 315 children with similar cardiac anomalies without this syndrome underwent cardiac catheterization during an 8-year period from 1964 to 1973. Only patients under 17 years of age were included in the study. Nine tenths of the children with Down syndrome but only one fourth of the control group had abnormally high pulmonary arterial pressures. For example, 9 of 11 children with defects of the atrial septum and Down syndrome had pulmonary hypertension; in contrast, only 5 of 55 control subjects with similar defects had pulmonary hypertension. The data suggest that children with congenital heart disease and Down syndrome have an unusually high pulmonary vascular resistance and a propensity for early development of severe damage to the pulmonary vascular bed.
 ...
PMID:The pulmonary vascular bed in children with Down syndrome. 12 55

The causes of death in 130 patients with Down's Syndrome and mortality rates from a material of 524 patients were tabulated; a life-table for the ages over 5 years was constructed. An overall death rate of 5-7 times the general population rate was found. No sex difference was observed. The excess mortality was expecially high for heart disease and respiratory disease. Also infectious diseases, others than pneumonia and tuberculosis, showed high mortality rates.
 ...
PMID:Mortality and life-table in Down's syndrome. 12 22

It is reported about 61 children and literature of congenital heart disease and Down syndrome. Even for the cardiologist the heart malformations has to be seen only as a part of the disturbance of the whole individuum. Therapeutic problems are discussed.
 ...
PMID:[Congenital heart disease and down syndrome (author's transl)]. 12 55

Cytogenetic, clinical, and other findings are presented on a pair of same-sex, monochorial MZ twins concordant for both trisomy 21 and congenital heart disease. The literature on Down's syndrome in twins and on congenital heart disease in twins is reviewed and the exceptional occurrence of concordant congenital heart disease in MZ twins is stressed.
 ...
PMID:Monozygotic twins with concordance for Down's syndrome and congenital heart disease. 13 63

There was 230 patients with heart disease among 369 infants and children with Down's syndrome. The majority exhibited defects of the endocardial cushion variety and approximately one quarte had complete atrioventricular canals (CAVC). Pulmonary artery hypertension was uniform in catheterized patients in this latter group and frequent in all left-to-right shunts. Medical and surgical mortality was high (33%) in these 230 children and especially in those with CAVC and tetralogy of Fallot. Only 4% (76 of 1,916) of infants with critical heart disease in New England had Down's syndrome and the most frequent lesion encountered was complete atrioventricular canal.
 ...
PMID:The clinical course of cardiac disease in Down's syndrome. 13 32

Two hundred fifty-one patients with Down syndrome and congenital heart disease was based on clinical (41%), catheterization (38%), surgical (11%), or autopsy data (10%). The most common lesions were endocardial cushion defect (43%), ventricular septal defect (32%), secundum atrial septal defect (10%), tetralogy of Fallot (6%), and isolated patent ductus arteriosus (4%). Thirty percent had multiple cardiac defects. The most common associated lesions were patent ductus arteriosus (16%) and pulmonic stenosis (9%). Twenty-five percent of the patients uncerwent cardiac surgery. Motality in the 68 patients undergoing surgery was 26% for open heart procedures and 11% for closed heart surgery. In 32% of nonsurgically treated patients with large left-to-right shunts, irreversible pulmonary vascular disease developed. Improved medical and surgical care have decreased morbidity and mortality in these patients in recent years.
 ...
PMID:Down syndrome with congenital heart malformation. 13 59

A sample of 90 children with Down's syndrome were measured for recumbent length and weight from birth to age 36 months at the Children's Hospital Medical Center in Boston. At birth, means for both length and weight were reduced by about 0.5 SDs from the control group means. By 36 months, mean recumbent length was greater than 2 SDs below that for the control group, while the mean for weight was reduced by about 1.5 SDs from the control group mean. Growth velocity for both length and weight was most deficient within the first two years of life. About 30% of the sample demonstrated excess weight for length relations by 36 months. Children with moderate or severe heart disease were significantly smaller than those without or with mild cardiac problems at all times after birth. Measurements of a subsample of children at 4, 5, and 6 years of age suggested that growth velocity after 3 years of age may be within the range of normal. Assessment of growth of the child with Down's syndrome may be carried out with reference to charts plotting tenth to 90th percentiles based on these data.
 ...
PMID:Growth of children with Down's syndrome: birth to age 3 years. 14 90


1 2 3 4 5 6 7 8 9 10 Next >>