Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Atrioventricular septal defect (AVSD) is a common congenital cardiac malformation, associated with Down's syndrome. AVSD causes heart failure, and if not treated early, irreversible pulmonary hypertension. In Malta, a decline in age at diagnosis and at surgery was present from 1944 to 1994. The birth prevalence was 0.31/1000 live births, within the range obtained from a literature review. Down's syndrome children are now treated as are non-syndromic children.
 ...
PMID:Epidemiology, and diagnostic and surgical trends in atrioventricular septal defect in Malta. 1041 84

Nuchal translucency refers to the normal subcutaneous space, observed on first trimester ultrasound examination, between the skin and the cervical spine in the fetus. Increased nuchal translucency is known to be associated with an increased risk of aneuploidy, particularly Down syndrome. In addition to this association with aneuploidy, multiple studies have now identified increased nuchal translucency as a nonspecific marker of a wide range of fetal structural abnormalities, to include congenital diaphragmatic hernia, cardiac defects, and various genetic syndromes. The degree of nuchal translucency is directly related to the prevalence of fetal anomalies and may have prognostic significance, especially when found in association with other anomalies. The pathophysiology of increased nuchal translucency is uncertain but may be the result of cardiac failure or alterations in lymphatic drainage. Increased nuchal translucency may identify pregnancies that require further assessment, to include additional sonographic evaluation and possible fetal echocardiography. Further evaluation is required to assess the role of nuchal translucency screening in the general population.
 ...
PMID:First trimester screening for structural fetal abnormalities: nuchal translucency sonography. 1055 91

Complete atrioventricular septal defect (AVSD) associated with tetralogy of Fallot is a rare condition that still has problems in the postoperative period. The authors report their surgical experiences over the past 10 years. Nine children underwent total correction. The defect was repaired by the 2-patch technique and the ATrioventricular valve was reconstructed by suturing the cleft and annuloplasty. A transannular right ventricular outflow patch was used in 5 patients. All patients had Down syndrome and a free-floating superior bridging lEAflet. One patient died from cardiac failure. Although there was no reoperation or death in the late postoperative periods, mild mitral regurgitation occurred in 4 patients and there was moderate or severe pulmonary regurgitation in 2 patients. All survivors currently have no critical symptoms in their daily lives. With the standard of patient selection used, the optimal body weight was around 8 kg and PA index was 200 or more. Right ventriculotomy provided a better view for complete closure of the ventricular septal defect (VSD). In order to avoid re-regurgitation of the atrioventricular valve, the 2-patch technique is the most suitable procedure for total repair.
 ...
PMID:Complete atrioventricular septal defect associated with tetralogy of fallot: surgical indications and results. 1059 97

Hirschsprung's disease occurs rarely and sporadically in adult, involving males. In cases, which are manifested perinatally, the so called Hirschsprung-associated congenital anomalies (mainly central nervous system, urogenital and cardiovascular) may present (2-21%), which have not observed in adult. Mental retardation and Hirschsprung's disease more frequently are associated with Down syndrome (5-10%). The discoveries of molecular genetics in the last 4-5-years through the examination of transgenic ("knockout") mice, proved the basic role the mutation of 4 genes: the RET (receptor tyrosin kinase), a proto-oncogene, coding its ligand, the glial cell-line derived neutrophic factor (GDNF), the gene of the endothelin-B receptor (ENDRB) and the gene one of its ligand, the endothelin-3 (EDN3), in the pathogenesis of Hirschsprung's disease. In our case, the short segment Hirschsprung's disease caused respiratory and cardiac failure, which was recognized by autopsy. Besides, the severe mental retardation, the role of the long term use of antipsychotic medicines comes up in the prolongation and masking of the symptoms. The accompanied mental retardation and microcephalia in early childhood are known, which are associated anomalies with Hirschsprung's disease. In cases of Hirschsprung diseases at adults, no other associated congenital anomalies has been published. The mental retardation in Down-syndrome, in association with Hirschsprung's disease (and presumable in our case, too) is supposed to be the consequence of the mutation in the gene of GDNF. In this case, we observed, that the so called short segment H-d was accompanied at a 33 years old men patient with mental retardation (who was originated from a gypsy ethnic minority), because of it the connection of the nurses and the patient was disturbed and the main symptom of the H-d (chronic obstipation) remained hidden. The mechanic ileus was going on behind the scenes, and in addition to the cardiac failure caused the death of the patient. Practical conclusion of the case is that, Hirschsprung's disease should be suspected in all adult patients, who had severe obstipation persisting since childhood, especially in males.
 ...
PMID:[Adult Hirschsprung's disease with mental retardation and microcephaly]. 1096 5

In this study, we investigated perioperative and long-term prognosis and the risk of major complications after repair of ventricular septal defect in 48 patients with Down's syndrome who underwent ventricular septal defect repair between May 1980 to August 1999 were compared with those in 48 patients with normal chromosomes matched for age and time period. Pp/Ps were significantly lower after the operation in both groups; however perioperative and postoperative Pp/Ps of Down's syndrome group were significantly higher than that those of control group. The duration of intubation was significantly longer in the Down's syndrome group and the case-control study revealed that the risk of long intubation (> or = 7 days) was significantly higher in the Down's syndrome group, but the incidence of PH crisis did not differ between the 2 groups. The main reasons of prolonged intubation period were respiratory complications such as pneumonia or atelectasis. In Down's syndrome group, a 5 months old boy died of heart failure on the 5th postoperative day. All other patients were survived through a mean follow-up period of 122.4 months (the follow-up rate was 95.8%). In conclusion, the perioperative and long-term prognosis after ventricular septal defect repair in patients with Down's syndrome were similar to those in patients with normal chromosome.
 ...
PMID:[Effect of Down's syndrome on perioperative and long-term prognosis after ventricular septal defect repair]. 1104 47

Ethics, clinical performance, resource constraints and research all interact regularly in informing and driving the debate about the direction of health care in modern societies. Medicine has become the practice of what should be done rather than the art merely of what is possible. A public report criticising one of Europe's leading heart centres of being less willing to perform complex heart surgery in children with Down's syndrome generated a thoughtful discussion on whether equality of access is compatible with resource decisions in the rationing of limited health care resources. This and the developments in new high-technology solutions to end-stage heart failure make decision making on the cardiovascular medicine of the 21(st) century ever more important. This article discusses these issues in the light of realisation that performance issues, greater public oversight of medical decision making and the expansion of expensive medical options set policy makers, the public and the medical profession on a collision course which only prolonged and thoughtful debate can avoid.
 ...
PMID:Making choices in cardiology: difficulties of rationing and equality of access. 1137 21

Infants with Down syndrome are known to have a high frequency of birth defects, particularly cardiac and gastrointestinal defects. Mental retardation of different degrees is common, but accompanying central nervous system malformations are rare. We report a boy born spontaneously in the 37th postconceptional week with multiple malformations: microcephaly, hypertelorism, blepharophimosis, medial cleft palate, micrognathia, omphalocele, and pathologic palmar and plantar creases. Cardial sonography revealed a ventricular septal defect and mild pulmonary stenosis. Cranial magnetic resonance imaging demonstrated a general but infratentorial stressed brain atrophy with widening of the inner and outer cerebrospinal fluid spaces and dysplasia of the corpus callosum. Chromosomal analysis showed a free trisomy 21. The boy had muscular hypotonia and developed severe motor and mental retardation, accompanied by microsomia and generalized epileptic seizures. At age 8 months, he died of sudden nocturnal respiratory and cardiac failure. The peculiarity of this case is the combination of Down syndrome with midline developmental defects (callosal dysplasia, medial cleft palate, omphalocele) accompanied by severe malformative encephalopathy. There are no previous reports of this combination, but there are genetic links between Down syndrome and midline defects concerning the Drosophila single-minded (sim) gene. The expression pattern of the human sim corresponding gene suggests that it might be involved in the pathogenesis of midline defects in Down syndrome.
 ...
PMID:Midline developmental anomalies in Down syndrome. 1217 71

A 15-year-old boy with a ventricular septal defect, pulmonary hypertension, Down's syndrome, and extremely thickened media (ETM) of the small pulmonary arteries died of heart failure and pulmonary hypertension 13 years after intracardiac repair. Microscopic examination of lung specimens collected prior to the intracardiac repair and at the time of autopsy revealed that the ETM had remained unchanged and that the arteries connected to the vessels with ETM had become severely thickened. The present case shows that even a small percentage of arteries with ETM can cause pulmonary hypertension, and illustrates one of the mechanisms of how pulmonary hypertension can fail to be resolved after intracardiac repair.
 ...
PMID:Pathological lesions causing pulmonary hypertension after closure of a ventricular septal defect. 1452 59

Infective endocarditis (IE) caused by microbial infection is virtually always fatal if untreated. High-dose and long-term antibiotic treatment is required to eradicate microorganisms. If increased risk of embolic events, persistent infection, and progressive cardiac failure are present, surgery is indicated. However, surgery can carry an increased risk of mortality and morbidity in critically ill children of whom other treatment options such as administering, a thrombolytic agent; recombinant tissue plasminogen activator (r-tPA) could be an alternative choice. Here, we report a 14-year-old male with Down syndrome and acute myeloblastic leukemia, diagnosed with IE characterized by two large vegetations on aortic and mitral valves, who was successfully treated with r-tPA.
 ...
PMID:Treatment of infective endocarditis with recombinant tissue plasminogen activator. 1671 1

Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevalence is found in preterm infants, especially those with low birth weight. The female to male ratio is 2:1. Most patients are asymptomatic when the duct is small. With a moderate-to-large duct, a characteristic continuous heart murmur (loudest in the left upper chest or infraclavicular area) is typical. The precordium may be hyperactive and peripheral pulses are bounding with a wide pulse pressure. Tachycardia, exertional dyspnoea, laboured breathing, fatigue or poor growth are common. Large shunts may lead to failure to thrive, recurrent infection of the upper respiratory tract and congestive heart failure. In the majority of cases of PAD there is no identifiable cause. Persistence of the duct is associated with chromosomal aberrations, asphyxia at birth, birth at high altitude and congenital rubella. Occasional cases are associated with specific genetic defects (trisomy 21 and 18, and the Rubinstein-Taybi and CHARGE syndromes). Familial occurrence of PAD is uncommon and the usual mechanism of inheritance is considered to be polygenic with a recurrence risk of 3%. Rare families with isolated PAD have been described in which the mode of inheritance appears to be dominant or recessive. Familial incidence of PAD has also been linked to Char syndrome, familial thoracic aortic aneurysm/dissection associated with patent arterial duct, and familial patent arterial duct and bicuspid aortic valve associated with hand abnormalities. Diagnosis is based on clinical examination and confirmed with transthoracic echocardiography. Assessment of ductal blood flow can be made using colour flow mapping and pulsed wave Doppler. Antenatal diagnosis is not possible, as PAD is a normal structure during antenatal life. Conditions with signs and symptoms of pulmonary overcirculation secondary to a left-to-right shunt must be excluded. Coronary, systemic and pulmonary arteriovenous fistula, peripheral pulmonary stenosis and ventricular septal defect with aortic regurgitation and collateral vessels must be differentiated from PAD on echocardiogram. In preterm infants with symptomatic heart failure secondary to PAD, treatment may be achieved by surgical ligation or with medical therapy blocking prostaglandin synthesis (indomethacin or ibuprofen). Transcatheter closure of the duct is usually indicated in older children. PAD in preterm and low birth weight infants is associated with significant co-morbidity and mortality due to haemodynamic instability. Asymptomatic patients with a small duct have a normal vital prognosis but have a lifetime risk of endocarditis. Patients with moderate-to-large ducts with significant haemodynamic alterations may develop irreversible changes to pulmonary vascularity and pulmonary hypertension.
 ...
PMID:Patent arterial duct. 1959 90


<< Previous 1 2 3 4 5 Next >>