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)

Hemofiltration is accepted management for acute renal failure in critically ill patients. However, in infants, obtaining arterial access or adequate flow through the access is often difficult. We report our technique and experience with pump-assisted hemofiltration (PAHF) in ten infants with acute renal failure. In five patients, double-lumen venous catheters provided access, while two catheters at separate sites were used in the remaining patients. In all patients, hemofilters were used with standard intravenous tubing added to pre-filter tubing and placed through a standard volumetric infusion pump for regulation of blood flow. The infants, aged 5-575 days, weighed from 2.8 to 11.4 kg and had primary diagnoses of post-operative congenital heart disease in five, sepsis in four, and renal dysplasia in one. The duration of PAHF averaged 158 +/- 115 h (range 20-332 h). Complications included bleeding at a catheter or surgical site in one patient each and asymptomatic hyponatremia in five patients. Thus, with adequate nurse training, PAHF using a volumetric infusion pump for blood regulation can be acceptable therapy in acute renal failure in infants.
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PMID:Pump-assisted hemofiltration in infants with acute renal failure. 839 55

Autopsy records from the Women and Infants' Hospital from January 1974 through January 1994 were reviewed to identify cardiac malformations in the presence of skeletal dysplasia. Of 24 cases of lethal fetal or neonatal osteochondrodysplasias, 4 were given diagnoses in which disorders of type II collagen are regarded as causative. These 4 were categorized in the spondyloepiphyseal dysplasia (SED) spectrum of disorders; specifically two patients with hypochondrogenesis and two with spondyloepiphyseal dysplasia congenita were identified. Defects in cardiac septation were noted in the 2 patients with hypochondrogenesis. No cardiovascular abnormalities were present in the remaining cases, which included thanatophoric dysplasia, osteogenesis imperfecta, and asphyxiating thoracic dystrophy. Although cardiovascular malformations have been described in other types of osteochondrodysplasias, e.g., short rib polydactyly syndrome type II and chondroectodermal (Ellis-van Creveld) dysplasia, congenital heart disease has not been described in hypochondrogenesis. Type II collagen, which has been found to be abnormal in some patients with hypochondrogenesis, is considered to have a limited tissue distribution, and has not been detected as yet in human myocardium. The findings presented here suggest that type II collagen may function in human cardiogenesis.
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PMID:Cardiac malformation in two infants with hypochondrogenesis. 859 52

The reports relating emotional stress to sudden death are largely anecdotal. In addition to experimental and electrophysiological studies, an opportunity for a better understanding of possible stress-related sudden death (SSD) may be provided by medicolegal autopsies. The goal of our autopsy study was to analyze cardiovascular pathologic findings in cases of SSD and if possible identify mechanisms by which the stressful event (SE) could be the cause. Forty three cases were studied (29 males and 14 females). In all cases, the SE and the death were witnessed. The age range was 22 to 90 years in males (mean, 52) and 30 to 92 years in females (mean, 64). Death occurred in all cases without premonitory symptoms. In 20 cases, death occurred during the SE and in the other 23 cases occurred within 2 h of the event. SE included fear, 15 cases; altercation, 21 cases; sexual activity, 3 cases; police questioning or arrest, 4 cases. According to police reports, in 40 cases (90%), the victims had no previous clinical history of cardiovascular disease. At autopsy, the heart weight in males ranged from 255 to 1000 g with a mean of 517 g and in females the range was 250-700 g with a mean of 417 g. In only 3 cases, gross and microscopic examination of the heart was normal. In 2 of the remaining 40 cases the subjects died of subarachnoid hemorrhage. In 38 cases, a cardiac cause of death was found as follows: coronary heart disease, 27 cases; cardiomyopathy, 6 cases; aortic valvular stenosis, 2 cases and right ventricular dysplasia, 3 cases. A coronary artery thrombosis was found in 8 cases of sudden coronary death. Post myocardial infarction fibrosis was present in 25 cases (92%) of sudden coronary death. In conclusion, it appears from our autopsy study that SSD occurs primarily in those individuals with severe heart disease, especially coronary heart disease.
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PMID:Stressful events as a trigger of sudden death: a study of 43 medico-legal autopsy cases. 906 8

Geleophysics dysplasia, a rare disorder with autosomal-recessive inheritance, is characterized by short stature with a "happy-looking" facial appearance. Nonskeletal findings, particularly in an advanced stage, include hepatosplenomegaly and valvular cardiopathy. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, the underlying cause of the condition is considered to be a storage defect in the metabolism of glycoproteins. The clinical course, with progressive worsening of the condition favors this hypothesis. We report on 3 further cases, in which light and electron microscopic studies of iliac crest biopsies and cultured skin fibroblasts provided additional evidence that geleophysic dysplasia represents a lysosomal storage disease. The additional discovery of storage vacuoles in chondrocytes and skin fibroblasts strongly suggests that the condition is a generalized storage defect. To date, it has not yet been possible to identify the presumed biochemical defect in the metabolic pathways of glycoproteins.
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PMID:Clinical and ultrastructural findings in three patients with geleophysic dysplasia. 872 86

We describe three siblings, one of whom has serpentine fibula syndrome (SFS) and has many facial and skeletal features in common with two deceased brothers, making it highly likely that they too had the condition. The karyotype of one of the deceased males was 47,XXY. These are the first affected sibs with SFS, and the first affected males. They all have other abnormalities which have not previously been described as part of the condition, namely congenital heart disease, inguinal herniae (two sibs), intestinal malrotation (two sibs) and coloboma (one sib). Facially they resemble the cases described by ter Haar et al. (1983), who also had congenital heart disease and a skeletal dysplasia though did not have the characteristic bowing of the fibulae. There are also features in common with Hadju-Cheney syndrome.
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PMID:Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. 922 Feb 3

Radiofrequency energy was used for the ablation of chronic recurrent ventricular tachycardia (VT) in 58 patients who were divided into two groups: 44 cases with structural myocardial disease (36 men and 8 women: mean age 55 years; range: 14 to 85 years) with an average left ventricular ejection fraction of 38% (range: 15 to 80%): these patients had myocardial infarction (28 cases), arrhythmogenic right ventricular dysplasia (11 cases), idiopathic dilated cardiomyopathy (2 cases), operated congenital heart disease (2 cases) and operated valvular heart disease (1 case). The clinical success rate after the first session of radiofrequency ablation was 34%. When (according to our modified protocol of fulguration) 160 joule cathodal shocks were delivered to the same catheter previously used for RF ablation during the same session or secondarily (13 cases), the success rate increased to 76%. The average follow-up period of the 37 survivors was 16.7 months. The second group consists of 14 cases without structural myocardial disease (10 men and 4 women, mean age 41 years, range 14 to 69 years) with an average left ventricular ejection fraction of 61%. These patients had idiopathic ventricular tachycardia (10 cases) and verapamil-sensitive ventricular tachycardia (4 cases). The primary success of radiofrequency ablation alone was 43%. When combined with fulguration during the same of radiofrequency ablation alone was 43%. When combined fulguration during the same of at a later session, the success rate increased to 71.3%. The average follow-up period of the 13 survivors was 19 months (range 0.3 to 39 months). No significant difference was observed between the groups with or without structural myocardial disease after radiofrequency or fulguration ablation, not only with respect to global results but also after analysis of subgroups with, for example, post-infarction ventricular tachycardia or arrhythmogenic right ventricular dysplasia. However, clinical success was obtained after a single session of radiofrequency ablation alone in 8 of the 9 cases of incessant ventricular tachycardia in patients with structural myocardial disease.
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PMID:[Radiofrequency catheter ablation of ventricular tachycardia]. 873 70

Cerebral infarction before the age of 45 years accounts for 4-6% of all strokes. The etiology remains unexplained in a significant proportion of patients even after extensive investigations. The reported risk factors of this age group are cardiopathies, hypertension, smoking, hypercholesterolemia, reduction of anticoagulant proteins, hypercoagulable states, antiphospholipid antibodies primary syndrome, antiphospholipid antibodies secondary syndrome, some hemoglobinopathies, hyperviscosity syndromes, vasculitis, collagen vascular diseases, fibromuscular dysplasia, arterial dissections, migraine, myopathy encephalopathy lactic acidosis stroke like episodes, homocystinuria, familial amyloid angiopathy, microangiopathy with retinopathy encephalopathy and deafness, systemic lupus erythematosus, use of cocaine, traumas or manipulations of neck, AIDS. From 1/1/94 to 04/30/95 we observed 19 patients with cerebral infarctions and 9 patients with transitory ischemic attacks in young people. The aim of our study was to apply a diagnostic protocol by sequential tests of first level and second level. According to this protocol we found that the more common risk factors were ischemic cardiopathy, hypertension, smoking and hypercholesterolemia. Moreover we observed other independent risk factors, although less frequent, like the antiphospholipid antibodies, neurolupus, AIDS, deficit of protein S.
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PMID:[The application of a new diagnostic protocol for stroke in the young]. 876 46

The term "idiopathic" ventricular fibrillation is used to describe those episodes of unexpected sudden arrhythmic death due to ventricular fibrillation in patients with no demonstrable structural heart disease. Idiopathic ventricular fibrillation has been reported to account for 5-100% of all sudden arrhythmic deaths. Post mortem analysis have shown that about 80% of patients might have some kind of structural anomalies, mainly atherosclerosis, myocarditis, or right ventricular dysplasia. Follow-up of patients with idiopathic ventricular fibrillation has shown a high incidence of recurrent episodes of malignant ventricular arrhythmias. The absence of structural heart disease generally implies an excellent long-term prognosis if ventricular fibrillation can be avoided. Patients with an implantable defibrillator should have a mortality rate similar to the general population. New subsets of patients are being recognized as belonging with those previously classified as idiopathic ventricular fibrillation. More than 60 patients have been identified in different centers around the world with the so-called "right bundle branch block, ST segment elevation, and sudden death syndrome." Recurrence rate of malignant ventricular arrhythmias is very high in these patients, despite antiarrhythmic therapy. An implantable cardioverter-defibrillator seems the treatment of choice. Asymptomatic forms of the syndrome have been described. Follow-up in these asymptomatic patients has shown that some of them might become symptomatic during follow-up. Also, intermittent forms of the syndrome have been described, with transient normalization of the electrocardiogram. Administration of class I drugs in these patients unmasks the typical electrocardiographic pattern. In some of the patients previously classified as having idiopathic ventricular fibrillation, ajmaline or procainamide administration unmasks the electrocardiographic pattern of the syndrome, suggesting that its incidence may be higher than previously suspected.
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PMID:What to do in patients with no structural heart disease and sudden arrhythmic death? 882 Aug 39

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo-esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well-documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%). PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST.
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PMID:Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature. 884 15

Frontonasal malformation (FNM) is a developmental field defect representing abnormal morphogenesis of the frontonasal eminence. The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including hemifacial microsomia and Goldenhar's syndrome. A combination of FNM and OAVS has been described in the literature in 13 cases. This condition has been labeled as the oculoauriculofrontonasal syndrome, as well as ophthalmofrontonasal dysplasia. We have evaluated four patients with both FNM and OAVS. The pattern of malformation involves only the craniofacies: they have no vertebral defects, heart disease, or encephaloceles. The categorization of these four individuals and those in the literature raises interesting issues regarding syndrome classification. Originally, it was suggested that perhaps this disorder was a variation of Goldenhar's syndrome. However, now that it has become evident that FNM and OAVS are malformation patterns of etiologic and presumably pathogenetic heterogeneity, a more likely hypothesis is that when these two defects occur together, this represents a unique syndrome pattern. The purpose of this article is to suggest that the combination of OAVS and FNM may be a distinct entity, representing a discreet subset of patients.
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PMID:Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome. 893 80


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