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

As an increasing number of patients with congenital heart disease reach adulthood, more information is needed regarding outcomes. The first signs of impaired heart function may appear during exercise testing. The aim of the present study was to establish mean values for maximal oxygen uptake in adults with various congenital heart diseases. Patients from 6 major diagnostic groups were identified, including patients with atrial septal defect (ASD, n = 93), transposition of the great arteries corrected with the Mustard procedure (n = 84), congenitally corrected transposition of the great arteries (CCTGA, n = 41), Tetralogy of Fallot (n = 168), Ebstein's anomaly (n = 37), and Modified Fontan procedure (n = 52). Diminished maximal oxygen uptake was found in all diagnostic groups across age compared with healthy subjects. A significant decrease in maximal oxygen uptake with aging was found in those with ASD (p <0.0001), CCTGA (p = 0.01), and Tetralogy of Fallot (p <0.0001). There was no significant decline, however, in Ebstein's anomaly (p = 0.270), Fontan procedure (p = 0.182), and in the Mustard patients (p = 0.188). All patients achieved significantly lower heart rates than predicted (mean for all groups, p <0.0001). Forced vital capacity values (3.51 L, mean SD +/- 1.02) were lower than predicted values (4.10 L, mean SD +/- 0.90, p <0.0001) for all patients groups except those with ASD. Mean values, however, were within the accepted 20% range of variance. This study showed diminished aerobic capacity in all diagnostic groups when compared with a healthy population. The maximal oxygen uptake values across age groups can be used as reference values in patients with similar diagnoses and as the basis for further research.
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PMID:Aerobic capacity in adults with various congenital heart diseases. 1116 66

The role of the cardiac catheterization for diagnosis and treatment of pulmonary hypertension (PH) is very important. When mean pulmonary artery pressure increased more than 25 mmHg, then PH is defined. But this is measured accurately only by the catheterization. And we can discriminate the etiology of PH clearly by pulmonary capillary wedge pressure (Ppcw) or intra-cardiac shunt (L to R) by blood oxygen saturation step-up, and both parameters are obtained by this method. The etiology of PH is diagnosed as left sided heart failure, if Ppcw is increased more than 13 mmHg. PH is produced by congenital heart disease (ASD, VSD, PDA etc.), when the oxygen saturation step-up is recognized. And PH is induced by any pulmonary disease or pulmonary thrombo-embolism or collagen disease or liver cirrhosis or PPH, if Ppcw is normal and no oxygen step-up is recognized.
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PMID:[The role of cardiac catheterization for diagnosis and treatment of pulmonary hypertension]. 1141 Nov 19

The purpose of this article is to present some recent applications of diagnostic and interventional MRI in congenital heart disease. To date x-ray-based techniques have been the norm for most diagnostic and therapeutic applications. With the advent of ultrafast MRI and the development of MRI-compatible catheters and guide wires, the goal of achieving real-time guidance by MRI for interventions in congenital heart diseases has proven feasible. We briefly review the latest advances in cardiovascular MRI, and the development of MR-compatible devices for diagnostic and therapeutic applications such as ASD closure and pulmonary artery dilation.
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PMID:Magnetic resonance imaging guided cardiovascular interventions in congenital heart diseases. 1276 17

NKX2-5 is a homeodomain-containing transcription factor important in cardiac development. Familial mutations in the NKX2-5 gene are associated with cardiac abnormalities, but mutations are rare in sporadic cases. We studied the pathology and molecular genetics of NKX2-5 in diseased heart tissues of 68 patients with complex congenital heart disease (CHD), particularly atrial (ASD), ventricular (VSD), and atrioventricular septal defects (AVSD). We also studied DNA extracted from 16 normal hearts, as well as lymphocytic DNA from 50 healthy volunteers, 7 families, and 4 unrelated individuals with CHD. Direct sequencing revealed 53 NKX2-5 mutations in the diseased heart tissues, including nonsynonymous substitutions in the homeodomain of NKX2-5. We found common mutations among unrelated patients, but certain mutations were specific to VSDs and AVSDs. Many patients had multiple NKX2-5 mutations, up to 14 nonsynonymous mutations per patient in VSDs. Importantly, these nonsynonymous mutations were mainly absent in normal heart tissues of the same CHD patients, thus indicating somatic origin and mosaicism of mutations. Further, observed mutations were completely absent in normal hearts and lymphocytic DNA of healthy individuals. Our findings provide new insights for somatic NKX2-5 mutations to be of importance in congenital heart disease.
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PMID:Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. 1516 46

We report on a boy with recurrent drug resistant atrioventricular reentrant tachycardia. The patient had complex structural heart disease consisting of right atrial isomerism, systemic venous anomaly (mirror image orientation of the intrathoracic veins, hemiazygos continuation to the left-sided superior vena cava, with separate drainage of the hepatic veins into the left-sided atrium, congenitally corrected transposition (ccTGA), pulmonary atresia (PA), ventricular and atrial septal defects (VSD and ASD). At the age of 22 months RF ablation was performed. Access to the heart was obtained by percutaneous puncture of a hepatic vein, the left internal jugular vein, and femoral artery. Earliest retrograde atrial conduction during tachycardia was localized to the free wall of the left-sided AV groove, and ablation in this area was successful. There were no procedure-related complications. RF ablation of accessory pathway is feasible in young children with complex structural heart disease and abnormal systemic venous return. In such patients access to the heart must be planned with the knowledge of the anatomy and judicious use of the hepatic venous approach, which should be done only by experienced investigators.
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PMID:Combined transhepatic and transjugular approach for radiofrequency ablation of an accessory pathway in a child with complex congenital heart disease. 1524 67

We report the first case in the world literature of a patient with an atrial septal defect, severe pulmonary hypertension, and equalization of pulmonary and systemic pressures, who underwent successful closure of an ASD following prolonged therapy with the intravenous vasodilator epoprostenol. Judicious use of continuous prostacyclin in apparently inoperable patients with congenital heart disease may be associated with significant reversal of pulmonary hypertension, and conversion to an operable state.
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PMID:Reversal of pulmonary hypertension and subsequent repair of atrial septal defect after treatment with continuous intravenous epoprostenol. 1579 57

A 74-year-old woman with chronic auricular fibrillation, arterial hypertension, hypercholesterolemia, ischemic cardiopathy, and peripheral arteriopathy presented with purpuric lesions on the lower limbs (Fig. 1) and, to a lesser extent, on the anterior area of the chest. The mucous membranes were not affected. In 1989, she was diagnosed with anemia that evolved until 1998, when a bone marrow biopsy revealed a myelodysplastic syndrome unclassified in French-American-British Group (FAB). The patient has required periodic transfusions since February 1999. A skin biopsy of the purpuric lesions revealed a leukocytoclastic vasculitis; the lesions cleared with topical corticosteroid treatment. In May 1999, the patient presented with inflammatory and painful lesions localized on the vulva (Fig. 2), which had evolved over several days, without fever. No lesions were observed in other locations. A cutaneous biopsy showed an intense dermal edema and a diffuse and polymorphous dermal infiltrate involving the follicular structures. Exocytosis, spongiosis, and mucin deposits, demonstrated by Alcian blue stain, were observed in the follicular epithelium. Mature neutrophils were predominant in the dermal infiltrate, but a small number of eosinophils and immature cells were also present (Fig. 3). The myelogenous origin of the immature lining cells was further confirmed by positive staining of intracytoplasmic granules with naphthol-ASD chloroacetate sterase (Leder's stain). Vasculitis was not observed. Routine laboratory tests revealed 3030 leukocytes/mm(3) (60% neutrophils), a hemoglobin level of 8.4 g/dL, and 92,000 platelets/mm(3). Treatment with 30 mg/day of prednisone was started, and the lesions cleared slowly within 4 weeks. A new bone marrow biopsy in September 1999 showed a similar appearance to that taken in 1998. The patient died in January 2000 as a result of pneumonia with cardiac and respiratory failure. A 66-year-old man presented with a febrile syndrome that had evolved over 5 days, and painful and pruritic cutaneous lesions on the face and posterior neck (Fig. 4). Three months before, the patient was diagnosed with chronic myelogenous leukemia in acceleration phase. Examination revealed an edematous and erythematous face with pustular lesions on the surface, also involving the neck and the upper part of the back. The histopathologic examination revealed an intense edema and abscesses in the dermis. The infiltrate of these lesions was composed of mature neutrophils with the presence of abundant immature cells with a myelogenous aspect (Fig. 5). Analytical studies revealed 26,130 leukocytes/mm(3) (42% blasts). No specific treatment for Sweet's syndrome was administered and the lesions showed an improvement within 5 days. Eight days after admission, the patient died as a result of acute hemorrhage, before treatment for leukemia was initiated.
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PMID:Concurrent Sweet's syndrome and leukemia cutis in patients with myeloid disorders. 1610 72

Cerebral emboli and abscesses are common complications in patients with cyanotic congenital heart disease and right-to-left shunt. Of those, a persistent left superior vena cava (LSVC) draining into the left atrium, directly or through an unroofed coronary sinus, is a rather rare finding. In order to prevent recurrent cerebral emboli and abscesses, correction of this anomaly may be recommended. We report the first case of a patient who underwent a percutaneous closure of a persistent LSVC draining into the left atrium with an Amplatzer ASD occluder.
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PMID:Percutaneous closure of a persistent left superior vena cava connected to the left atrium. 1633 45

The transcription factor GATA4 is essential for heart morphogenesis. Heterozygous mutation of GATA4 causes familial septal defects. However, the phenotypic spectrum of heterozygous GATA4 mutation is not known. In this study, we defined the cardiac phenotypes that result from heterozygous mutation of murine Gata4. We then asked if GATA4 mutation occurs in humans with these forms of congenital heart disease (CHD). In mice, heterozygous Gata4 mutation was associated with atrial and ventricular septal defect (ASD, VSD), endocardial cushion defect (ECD), RV hypoplasia, and cardiomyopathy. Genetic background strongly influenced the expression of ECD and cardiomyopathy, indicating the presence of important genetic modifiers. In humans, non-synonymous GATA4 sequence variants were associated with ECD (2/43), ASD (1/8), and RV hypoplasia in the context of double inlet left ventricle (1/9), forms of CHD that overlapped with abnormalities seen in the mouse model. These variants were not found in at least 500 control chromosomes, and encode proteins with non-conservative amino acid substitutions at phylogenetically conserved positions, suggesting that they are disease-causing mutations. Cardiomyopathy was not associated with GATA4 mutation in humans. These data establish the phenotypic spectrum of heterozygous Gata4 mutation in mice, and suggest that heterozygous GATA4 mutation leads to partially overlapping phenotypes in humans. Additional studies will be required to determine the degree to which GATA4 mutation contributes to human CHD characterized by ECD or RV hypoplasia.
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PMID:Spectrum of heart disease associated with murine and human GATA4 mutation. 1764 47

The present status of congenital heart disease (CHD) from the persepective of the children's health in Nepal is not yeat available. Cross-sectional analysis of all children with heart disease attending Kanti Children Hospital was performed. VSD, ASD, obstructive valvular lesions and cyanotic heart diseases were the most common CHDs. Present data indicate the need for increased levels of cardiac care in children, correctional surgeries, monitoring of the patients and awareness among caregivers of CHD patients.
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PMID:Congenital heart disease in Nepalese children. 1836 59


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