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

Gastritis cystica polyposa (GCP) is a rare inflammatory disease of the gastric remnant that usually develops after partial gastrectomy. It is defined by the presence of polyps on anastomotic gastric mucosa and at histopathological examination, by the presence of mucosal and submucosal cysts with foveolar hyperplasia. The disease is characterized by the frequency of gastro-intestinal bleeding and possibility of carcinomatous association. We report seven cases of GCP collected over 5 years (1994-1999). Diagnosis was made 9 to 45 years after partial gastrectomy and Finsterer. The patients were 52 to 72 years old. Revealing symptoms were cardiac failure, cardiac ischemia, melena, severe anemia and epigastric pain. For one patient, GCP was discovered casually. Endoscopic examination showed in all patients; the presence of several polyps sized between 3 to 15 mm on the perianastomotic gastric remnant. Histology examination of the polyps showed microscopic features of GCP in all cases. In one patient, there was a mild glandular atrophy with extensive intestinal metaplasia and mild dysplasia. Helicobacter pylori was present only in this case.
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PMID:[Gastritis cystica polyposa: report of 7 cases and literature review]. 1638 3

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a progressive disease of predominantly right ventricle, characterized by ventricular arrhythmias possible leading to sudden cardiac death. Genetic predisposition was confirmed more than 15 years ago. Autosomal dominant are forms ARVD1-9, Naxos disease (with subtype Carvajal syndrome) is recessive. In ARVC/D forms associated with desmosomal disorders are ventricular arrhythmias caused by the presence of myocardial damage and in forms associated with ryanodine receptor mutation is electrical instability and subsequent myocardial damage caused by calcium cell overload. Main clinical signs are ventricular arrhythmias originated from areas with slow conduction. Progression of ARVC/D is manifested by RV dilatation and LV echocardiographic abnormalities both considered as main risk factors of fatal ventricular arrhythmias and sudden cardiac death. Therapeutic possibilities include antiarrhythmic drugs, catheter ablation and implantation of cardioverter-defibrillator, in severe right or both ventricle involvement even heart failure treatment (Tab. 1, Ref. 56).
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PMID:Arrhythmogenic right ventricular cardiomyopathy/dysplasia. 1645 41

Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Moreover, affected families have been identified in other Aegean islands, Turkey, Israel and Saudi Arabia. A syndrome with the same cutaneous phenotype and predominantly left ventricular involvement has been described in families from India and Ecuador (Carvajal syndrome). Woolly hair appears from birth, palmoplantar keratoderma develop during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Patients present with syncope, sustained ventricular tachycardia or sudden death. Symptoms of right heart failure appear during the end stages of the disease. In the Carvajal variant the cardiomyopathy is clinically manifested during childhood leading more frequently to heart failure. Mutations in the genes encoding the desmosomal proteins plakoglobin and desmoplakin have been identified as the cause of Naxos disease. Defects in the linking sites of these proteins can interrupt the contiguous chain of cell adhesion, particularly under conditions of increased mechanical stress or stretch, leading to cell death, progressive loss of myocardium and fibro-fatty replacement. Implantation of an automatic cardioverter defibrillator is indicated for prevention of sudden cardiac death. Antiarrhythmic drugs are used for preventing recurrences of episodes of sustained ventricular tachycardia and classical pharmacological treatment for congestive heart failure, while heart transplantation is considered at the end stages.
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PMID:Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. 1672 79

Arrhythmogenic right ventricular dysplasia is a rare disorder that is familial in 30% to 50% of cases. It is characterized by structural and functional abnormalities of the right ventricle and a propensity for ventricular arrhythmias and sudden death. We report the case of a 59-year-old woman who had idiopathic, severe, right-sided heart failure and nonsustained ventricular tachycardia. She was diagnosed with arrhythmogenic right ventricular dysplasia by means of cardiac magnetic resonance imaging. We discuss the clinical features, diagnostic criteria, and role of cardiac magnetic resonance imaging in the diagnosis of arrhythmogenic right ventricular dysplasia.
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PMID:Arrhythmogenic right ventricular dysplasia: initial presentation in a middle-aged woman. 1704 4

A 41-day-old female infant with VACTERL association was transferred to the pediatric intensive care unit of our hospital. She had been delivered at 36 weeks gestation by spontaneous vaginal delivery and weighed 2340 g. Esophageal atresia type A with long gap, anal atresia, cardiac anomaly (atrial septal defect and patent ductus arteriosus), thoracic vertebral dysplasia, left renal agenesis, and minor anomalies (left-side facial nerve palsy, left-side difficulty in hearing, and the absence of the right thenar) had been diagnosed by various examinations. She was transferred to our hospital to receive treatment for heart failure due to a cardiac anomaly. We recognized vaginal atresia during a radical operation for anal atresia (rectovestibular fistula) at 8 months of age. Furthermore, magnetic resonance imaging (MRI) revealed agenesis of the uterus. MURCS association includes Mullerian duct aplasia or hypoplasia, renal aplasia, and cervicothoracic somite dysplasia. This is the first case of complete VACTERL association combined with MURCS association.
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PMID:A female infant who had both complete VACTERL association and MURCS association: report of a case. 1787 38

We present the case of a female patient with arrhythmogenic dysplasia of the right ventricle who evolved to refractory heart failure, ascites, and peripheral edema. As a result, heart transplantation was performed. Subsequently, refractory ascites impaired the patient's respiratory function, resulting in prolonged mechanical ventilation. She was successfully treated with transjugular intrahepatic portosystemic shunt (TIPSS) placement, which allowed satisfactory weaning of ventilatory support.
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PMID:TIPSS procedure in the treatment of a single patient after recent heart transplantation because of refractory ascites due to cardiac cirrhosis. 1807 89

Osler-Weber-Rendu disease (OWRd) is an autosomal dominant disease with an incidence of 1-2 per 100,000 of population. The triad of OWRd is fibrovascular dysplasia characterized by telangiectases, arteriovenous malformations and recurrent bleeding. We experienced anesthetic management of a patient with OWRd undergoing mitral valvuloplasty. The patient was a 79-year-old woman admitted to our hospital with diagnosis of heart failure, mitral regurgitation, and chronic atrial fibrillation. Massive nasal bleeding before admission caused severe anemia (Hb 4.8 g dl(-1)), and she received transfusion. Preoperaitve examination revealed moderate mitral regurgitation with prolapsed anterior leaflet, pulmonary hypertension, high cardiac output (6.85 l min(-1)), and multiple hepatic angiomas. After induction of anesthesia, a pulmonary catheter was inserted. High cardiac output and high saturation of mixed-venous oxygen were found until the end of surgery. Blood gas analyses of samples from several sites suggested left to right shunt below the inferior vena cava. Mitral valvuloplasty and tricuspid annuloplasty were completed under mild hypothermic cardiopulmonary bypass. Despite our attention to abnormal bleeding, perioperative course was uneventful. For anesthetic management of OWRd, we must recognize the abnormal bleeding and the systemic vascular malformations preoperatively, and prepare for the possible complications.
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PMID:[Anesthetic management of a patient with Osler-Weber-Rendu disease undergoing mitral valvuloplasty]. 1827 78

Autosomal-dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) causes sudden cardiac death and is characterized by clinical and genetic heterogeneity. Fifteen unrelated ARVC families with a disease-associated haplotype on chromosome 3p (ARVD5) were ascertained from a genetically isolated population. Identification of key recombination events reduced the disease region to a 2.36 Mb interval containing 20 annotated genes. Bidirectional resequencing showed one rare variant in transmembrane protein 43 (TMEM43 1073C-->T, S358L), was carried on all recombinant ARVD5 ancestral haplotypes from affected subjects and not found in population controls. The mutation occurs in a highly conserved transmembrane domain of TMEM43 and is predicted to be deleterious. Clinical outcomes in 257 affected and 151 unaffected subjects were compared, and penetrance was determined. We concluded that ARVC at locus ARVD5 is a lethal, fully penetrant, sex-influenced morbid disorder. Median life expectancy was 41 years in affected males compared to 71 years in affected females (relative risk 6.8, 95% CI 1.3-10.9). Heart failure was a late manifestation in survivors. Although little is known about the function of the TMEM43 gene, it contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC.
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PMID:Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. 1831 22

Arritmogenic right ventricular dysplasia (ARVD) is characterized by the gradual replacement of myocytes by adipose and fibrous tissue. Described in 1977, is considered a potentially lethal cause of cardiac disease poorly understood. This disorder usually involves the right ventricle and has been associated with arrthymia, heart failure, and sudden death. In this paper, we report a case of a 25-year-old patient with syncope associated with ventricular extrasystoles. A magnetic resonance imaging was performed and showed findings that support ARVD diagnose.
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PMID:Arrythmogenic right ventricular dysplasia. 1900 66

Echocardiographic strain with strain rate imaging is a new technology enabling more reliable and comprehensive assessment of myocardial function. The spectrum of potential clinical applications is very wide due to its ability to differentiate between active and passive movement of myocardial segments, to quantify intraventricular dyssynchrony and to evaluate components of myocardial function, such as longitudinal myocardial shortening, that are not visually assessable. In-vivo and in-vitro validation of 2D-strain imaging technique have been undertaken and reached a point where it is considered ready for more widespread investigations into clinical utility, e.g. regarding myocarditis, arrhythmogenic right ventricular dysplasia/cardiomyopathy and regional ischemia. Moreover, longitudinal LV strain is closely related to log plasma brain-type natriuretic peptide levels in patients with congestive heart failure, both in patients with systolic and diastolic heart failure. We present a case of detection of coronary artery disease in a 55-year-old Italian man. This case focuses attention on the higher sensibility of the 2-Dimensional Strain echocardiography the diagnosis of myocardial ischemia in patients with coronary artery disease.
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PMID:2-Dimensional strain echocardiography and early detection of myocardial ischemia. 1918 69


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