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)

Exertional dyspnea, a major symptom of patients with chronic heart failure, mainly stems from an abnormally high ventilatory response to exercise. However, there has been considerable controversy surrounding the mechanisms of respiratory control during exercise, especially regarding the role of serum potassium. We investigated the relation between serum potassium concentration [K+] and ventilation (VE) during exercise before and after oral supplements of potassium chloride in cardiac patients. Thirteen patients with chronic heart disease performed a 6-min constant-work-rate exercise (65.8+/-11.1 W) with respiratory gas measurements before initiating oral supplements of potassium chloride, 4 weeks after continued supplements, and 4 weeks after discontinuing supplements. Blood was sampled from a forearm vein at rest before exercise and at the end of exercise for measurement of [K+] and blood gases. The [K+] at rest was 3.66+/-0.30 mmol/L before oral supplements of potassium and significantly increased to 4.08+/-0.31 mmol/L (p<0.01) after supplements. In spite of the significant increases in the [K+], resting VE was not changed. While serum [K+] during exercise was significantly higher after potassium supplements than before, exercise VE was not influenced by the changes in [K+] throughout the study period. The findings of the present study strongly suggest that the chronic increase in the serum [K+] has no influence on the resting or exercise VE in patients with heart disease.
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PMID:Lack of a relation between serum potassium concentration and exercise hyperpnea in patients with chronic heart disease. 1095 49

We encountered a 75-year-old man who complained of exertional dyspnea. An echocardiographic examination showed aortic regurgitation and a tumor in the left ventricular outflow tract. Under complete extracorporeal circulation, we surgically made an incision of the ascending aorta with a slight thickening of the aortic valve and an enlarged annulus. After excising the aortic valve, an examination of the subvalvular region revealed mitral valve-like tissue extending from the annular region of the right coronary cusp to the ventricular septum, while the chordae tendinae was attached to the septum. This issue was excised, and the aortic valve was replaced with a 27-mm SJM valve. The postoperative course was uneventful, and the patient was discharged in good condition on postoperative day 30. An accessory mitral valve is extremely rare. Since this indication for surgical treatment is associated with congenital heart disease or a left ventricular outflow tract obstruction, most patients are young. Our patient had no associated cardiac anomalies and no pressure gradient attributable to a left ventricular outflow tract obstruction. This accessory mitral valve was discovered during aortic valve replacement surgery. To our knowledge, our patient is the oldest reported with an accessory mitral valve to have undergone a surgical resection.
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PMID:Accessory mitral valve associated with aortic regurgitation in an elderly patient: report of a case. 1210 77

A 51-year-old female hospitalized with a non-specific colitis, presented a crescent-like shadow in the right lower lung accompanied by a reduced right lung volume on a routine chest x-ray. There was no family history of congenital heart disease. The initially performed, noninvasive, contrast enhanced cardiac CT (electron-beam tomography [EBT]) proved the suspected diagnosis of a partial, anomalous pulmonary, transdiaphragmatic vein drainage (APVD) in combination with a hypoplastic right lower lobe and dextrocardia. These findings are in accordance with scimitar syndrome. Regarding to the clinical situation with symptoms like slowly progressive dyspnea on exertion and low exercise tolerance for the last 2 years and an invasively documented left-to-right shunt ratio >50% (Qp:Qs = 2.6 : 1) surgical repair was recommended. The anomalous vein was connected to the left atrium creating a "neo-septum". On a postoperative checkup after 9 months the patient is without any medication, symptoms during moderate activity are relieved, exercise tolerance was substantially better and noninvasive imaging visualized the corrected drainage of the anomalous vein to the left atrium.
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PMID:[A "late" scimitar syndrome. Diagnostic contribution of cardiac computed tomography]. 1288 44

Hypertrophic Cardiomyopathy (HCM) is a relatively common primary cardiac disorder defined as the presence of a hypertrophied left ventricle in the absence of any other diagnosed etiology. HCM is the most common cause of sudden cardiac death in young people which often occurs without precedent symptoms. The overall clinical phenotype of patients with HCM is broad, ranging from a complete lack of cardiovascular symptoms to exertional dyspnea, chest pain, and sudden death, often due to arrhythmias. To date, 270 independent mutations in nine sarcomeric protein genes have been linked to Familial Hypertrophic Cardiomyopathy (FHC), thus the clinical variability is matched by significant genetic heterogeneity. While the final clinical phenotype in patients with FHC is a result of multiple factors including modifier genes, environmental influences and genotype, initial screening studies had suggested that individual gene mutations could be linked to specific prognoses. Given that the sarcomeric genes linked to FHC encode proteins with known functions, a vast array of biochemical, biophysical and physiologic experimental approaches have been applied to elucidate the molecular mechanisms that underlie the pathogenesis of this complex cardiovascular disorder. In this review, to illustrate the basic relationship between protein dysfunction and disease pathogenesis we focus on representative gene mutations from each of the major structural components of the cardiac sarcomere: the thick filament (beta MyHC), the thin filament (cTnT and Tm) and associated proteins (MyBP-C). The results of these studies will lead to a better understanding of FHC and eventually identify targets for therapeutic intervention.
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PMID:Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes. 1641 46

A 1-year-5-months-old female who had cough, rhinorrhea and prolonged fever for 19 days was admitted to the intensive care unit due to exertional dyspnea. She was intubated promptly in virtue of hypotension and cyanosis. The physical examination demonstrated diminished breathing sound over the right lung and distant heart sound; echocardiogram showed cardiac tamponade. Further X ray study showed right hydropneumothorax and cardiomegaly. Pericardiocentesis and chest thoracostomy were performed, and subsequently all the cultures showed growth of Streptococcus pneumoniae. Antibiotics therapy was started promptly after admission. Further investigation indicated osteomyelitis of the right ilium, so that surgical debridement was done. The patient was discharged 54 days later with complete recovery. After following up for 18 months, no restrictive heart disease developed. Purulent pericarditis with cardiac tamponade is an extremely rare complication of pneumococcal infection.
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PMID:Disseminated pneumococcal infection with pericarditis and cardiac tamponade: report of one case. 1664 5

Most carcinoid tumors originate in the gut. Carcinoid heart disease typically occurs when tumor progression results in the formation of hepatic metastases, which allow vasoactive substances to reach the heart without being metabolized in the liver. Except for patients with primary ovarian carcinoid tumors, the occurrence of carcinoid heart disease without hepatic metastases has been reported only anecdotally. From a retrospective analysis of 265 patients, 4 patients were identified who developed carcinoid heart disease in the absence of liver metastases or primary tumors located in the ovaries. All 4 patients had metastases to the retroperitoneal lymph nodes and had carcinoid syndrome. The reasons for referral to cardiac evaluation by transthoracic echocardiography were findings on auscultation in 3 patients and exertional dyspnea in 1 patient. In conclusion, cardiac symptoms or findings on auscultation should prompt further evaluation by transthoracic echocardiography in these patients, although the classic prerequisites for development of carcinoid heart disease are lacking.
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PMID:Carcinoid heart disease in patients without hepatic metastases. 1722 38

The increased incidence of obesity in the world has resulted in more and more people attempting to lose weight through a variety of diets. Many of these diets employ caloric reduction through the elimination of certain food groups. These diets may initially be associated with weight loss (including water weight) but follow up reports of these diets show high drop out rates, proinflammatory changes which can precipitate heart disease and weight gain following cessation of these diets. Efforts to use prescription anorexic medications have been associated with valvular disease and other health concerns. Dissatisfaction with the medical community and a subsequent increase in the availability of information on the Internet, are only two of the reasons why people are looking at alternative medicine to assist with health care issues. This includes the use of herbal supplements for appetite suppression. A review of the literature reveals several problems with some of these supplements, including Ephedra. Potentially serious adverse effects include dysrhythmias, heart failure, myocardial infarction, changes in blood pressure, and death have occurred. Unfortunately, one half of all patients experiencing a myocardial infarction have total cholesterol levels below 150 mg/dL and/or no prior cardiac symptoms. This means that the development of inflammatory changes which can precipitate myocardial infarction may go unnoticed by conventional testing and unless markers of inflammation and coronary perfusion are looked for, changes which can precipitate myocardial infarction may go unnoticed until cardiac injury occurs. The following case presentation shows how an individual with exertional dyspnea and concerned about her weight was affected by both the ingestion of a low-carbohydrate diet and ephedra.
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PMID:The effect of ephedra and high fat dieting: a cause for concern! A case report. 1735 Nov 65

Interrupted aortic arch is the complete loss of luminal continuity between the ascending aorta and the descending aorta and accounts for 1% of all congenital heart disease. Of the affected patients, 75% die within the first month of life and about 90% within the first year if not surgically treated. We report a case of an echocardiographic diagnosis of a type C interrupted aortic arch in an adult who presented with exertional dyspnea and angina after a recent coronary event.
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PMID:Transthoracic echocardiographic diagnosis of a type C interrupted aortic arch in an adult. 1768 5

Pulmonary hypertension (PH) is a hemodynamic state characterized by elevation in the mean pulmonary arterial pressure and pulmonary vascular resistance leading to right ventricular failure and premature death. PH can be the result of a variety of diseases of different etiologies. Pulmonary arterial hypertension (PAH) should be distinctly differentiated from pulmonary venous hypertension (PVH) as a result of left heart disease. PAH is commonly caused by or associated with an underlying pulmonary, cardiac, or systemic disease (APAH). In the absence of an identifiable etiology or associated underlying disease, PAH is referred to as idiopathic (IPAH). IPAH, formerly known as primary pulmonary hypertension (PPH), is a rare disease most commonly seen in women of childbearing age. Presenting symptoms and signs are nonspecific and include dyspnea on exertion, fatigue, and a loud pulmonary component of the second heart sound. Transthoracic Doppler echocardiography is an excellent noninvasive test to detect the presence of pulmonary hypertension, although every patient should receive a right heart catheterization to confirm the diagnosis. A detailed work up, including laboratory tests and imaging studies, is also indicated to rule out known causes of pulmonary hypertension. Several targeted treatment options have become available in recent years and include parenteral and inhaled prostanoids, oral endothelin receptor antagonists, and oral phosphodiesterase type-5 inhibitors. As a result of their complex care, patients should be referred to centers with expertise in pulmonary hypertension.
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PMID:Pulmonary hypertension: evaluation and management. 1800 30

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease, generally treated with total correction within the first two years of life. Occasionally, some unoperated cases can reach older ages. A 68-year-old woman with diabetes mellitus presented with swelling in legs and abdomen, weakness, exertional dyspnea, and orthopnea. On physical examination, she had mild cyanosis with clubbing. Her blood pressure was 110/60 mmHg and pulse rate was 79 beat/min. She had a systolic ejection murmur and bilateral rales on basal lung areas. Massive edema was noted in both lower limbs. Electrocardiography showed atrial fibrillation with normal ventricular response. Chest radiography showed an increased cardiothoracic ratio and bilateral minimal pleural effusion. Echocardiography showed biatrial dilatation (right atrium 62 mm, left atrium 49 mm) and thickening of left ventricular walls. There was right ventricular hypertrophy with decreased systolic function. A very large ventricular septal defect and severe pulmonary stenosis were noted. The patient did not accept any interventional procedure. To our knowledge, this is the oldest unoperated TOF case reported from our country.
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PMID:Unoperated tetralogy of Fallot in a 68-year-old patient. 1862 10


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