Risk of ischaemic heart disease and cardiomyopathy in patients with haemochromatosis and in their first-degree relatives: a nationwide, population-based study.

BACKGROUND: Iron-loaded macrophages increase atherosclerosis formation. Genetic haemochromatosis (GH) is an autosomal recessive disease characterized by iron overload, for example in the myocardium, but the reticuloendothelial system is depleted of iron. In contrast to the elevated risk of cardiomyopathy in GH, the risk of ischaemic heart disease (IHD) may therefore not be increased. Little is known of these risks among heterozygotes also being first-degree relatives (FDRs), thus sharing other factors for phenotypic expression of GH. OBJECTIVE: To assess the risks of IHD and cardiomyopathy among haemochromatosis patients and their FDRs. DESIGN: Population-based cohort study. SETTING AND SUBJECTS: A total of 3531 haemochromatosis patients and 11 794 FDRs were identified using nationwide, population-based health and census registers. Matched (1:10) population controls were randomly selected. Individuals with a record of IHD and cardiomyopathy during 1997-2005 were identified through linkage with the National Patient Register. Relative risks were estimated using Cox proportional hazard regression. RESULTS: Of the 3531 patients, 259 were diagnosed with IHD compared with 3077 of the 37 369 controls [hazard ratio (HR) = 1.17; 95% CI, 1.03-1.33]. Based on 30 patients versus 115 controls, the HR for cardiomyopathy was 3.21 (95% CI, 2.15-4.81). Of 11 794 FDRs of haemochromatosis patients, 582 were registered with IHD compared with 6197 among FDRs of controls (HR = 1.05; 95% CI, 0.97-1.15). Based on 28 FDRs of patients versus 291 FDRs of controls registered with cardiomyopathy, the HR for cardiomyopathy was 1.06 (95% CI, 0.72-1.56). CONCLUSIONS: In patients with haemochromatosis, the increased risk of cardiomyopathy is much more pronounced than that of IHD, which is barely elevated. FDRs of haemochromatosis patients are not at increased risk of cardiomyopathy or IHD.

Survival of patients with severe thoracic spine deformities receiving domiciliary oxygen therapy.

Scoliosis can lead to respiratory failure and premature death. Alveolar hypoventilation is a dominant cause and artificial ventilation at home (AVH) is probably the treatment of choice. It has been suggested that long-term domiciliary oxygen therapy (LTO) is of little value because of the worsening of hypercapnia. We analyzed survival and predictors of death among 80 patients with scoliosis and other severe thoracic spine deformities receiving LTO for chronic hypoxia. The survival rate was higher in patients under the age of 65 (p = 0.01) and in patients without concomitant pulmonary or airways disease. Likewise, the survival rate was higher in patients with a PaCO2 of greater than 7.4 kPa than in patients with a lesser degree of hypoventilation and hypercapnia (p less than 0.05). The risk of developing life-threatening hypercapnia during well-controlled LTO appeared to be small. In younger patients without complicating disease, long-term survival was achieved with LTO, but with time, an increasing proportion of the patients changed to AVH, with or without LTO.

Quality of life of patients treated by home mechanical ventilation due to restrictive ventilatory disorders.

The quality of life of patients with hypoventilation and home mechanical ventilation (HMV) has not been well described. Modern quality of life assessment techniques were therefore introduced in a cross-sectional study of patients treated with HMV. The aim was to study various aspects of the patient's quality of life and relate them to the underlying diseases, blood gases and the type of ventilatory connection. The study comprised 39 patients, most of them ventilated only during the night (n = 35). Nasal ventilation predominated (n = 29). Patients treated with HMV reported satisfactory levels of both psychosocial functioning and mental well-being that compared well with a general population group. Their quality of sleep was generally good. The quality of life measures were mainly influenced by the patients' underlying disease. Patients with scoliosis expressed in almost all instances the best quality of life. The quality of life of patients with ventilation by tracheostomy was reported to be at least as good as that of patients with nasal ventilation. The global quality of life estimation was mainly determined by the mental state of the patients and their sleep quality and only to a minor extent by physical handicaps. In conclusion, the patients treated with HMV reported good psychosocial functioning and mental well-being, in spite of severe physical limitations and dependence on regular nocturnal ventilation.

Long-term follow-up of patients with untreated scoliosis. A study of mortality, causes of death, and symptoms.

The mortality and causes of death in 115 patients (80 women), born 1902-1937, with untreated scoliosis were compared to the expected according to official Swedish statistics. Subgrouping for cause and onset of scoliosis was done. Fifty-five patients had died; 21 of respiratory failure and 17 of cardiovascular diseases. The mortality was significantly (P less than 0.001) increased. The increased risk was apparent at 40-50 years of age. The mortality was significantly increased in infantile (P less than 0.001) and juvenile (P less than 0.01) scoliosis but not in adolescent scoliosis. The mortality was also increased in post-polio scoliosis, scoliosis combined with rickets and scoliosis of unknown etiology indicating an increased mortality in idiopathic scoliosis. Among the surviving patients anti-hypertensive treatment was frequent (23 of 50).

Respiratory failure in scoliosis and other thoracic deformities. A survey of patients with home oxygen or ventilator therapy in Sweden.

Registers covering Swedish patients with home ventilator or long-term oxygen therapy were used to study respiratory failure caused by thoracic deformities. In all, 107 patients were studied. Postpolio scoliosis was found in 47 patients. The age of starting therapy varied between 28 and 80 years. Fourteen patients had thoracic deformities other than scoliosis. The mean scoliotic angle was 135 degrees among the patients with scoliosis, and the mean vital capacity was 26% (range, 13-54%) of predicted normal. The yearly demand for home ventilator or oxygen therapy is calculated to three per million inhabitants. No operated patients had respiratory failure, and no patients were found with idiopathic scoliosis and respiratory failure younger than 30 years of age, which may indicate a preventive effect of corrective surgery on the development of respiratory failure.

Exercise performance and beta-adrenergic blockade in patients with complete heart block treated with ventricular inhibited pacing.

The effect of beta-adrenergic blockade (propranolol) on exercise performance was studied in 15 patients (12 men and 3 women, mean age 70 years) with complete heart block treated with a ventricular-inhibited pacemaker (VVI). In a double-blind procedure, the patients were randomly given either 0.1 mg/kg of propranolol or saline solution i.v. before a first exercise test and vice versa before a second test. The interval between the tests was 24 hours. Nine patients were in sinus rhythm, 4 patients had atrial flutter, and 2 others had atrial fibrillation. The exercise capacity was on an average 11% lower with propranolol than with placebo (p less than 0.001). The most marked reductions (20 and 33%) were found in the two patients with atrial fibrillation. The atrial rate in patients with sinus rhythm was significantly lower with propranolol than placebo both at rest (68 vs. 83 beats/min, p less than 0.001) and at maximal work load (91 vs. 141 beats/min, p less than 0.001). The present findings show that beta blockade has negative effects on exercise capacity in patients with complete heart block treated with VVI pacemakers. This finding should be considered in the selection of drug treatment in patients with fixed rate pacing and concomitant hypertension and/or ischemic heart disease.

The low-molecular-weight heparin dalteparin as adjuvant therapy in acute myocardial infarction: the ASSENT PLUS study.

Rapid reperfusion of an infarct-related artery reduces the extent of myocardial damage and improves survival in acute myocardial infarction (AMI). Currently, anticoagulant treatment with unfractionated heparin (UFH) is used as adjuvant therapy to fibrinolytic treatment. The low-molecular-weight heparin (LMWH) dalteparin is at least as effective as UFH in unstable coronary artery disease. The ASSENT PLUS trial was carried out to evaluate whether dalteparin is as effective as UFH as an adjunct to recombinant tissue-plasminogen activator (rt-PA) and aspirin in obtaining patency and Thrombolysis in Myocardial Infarction (TIMI)-3 flow in patients with AMI. The primary assessment of this phase II trial was TIMI flow, determined by coronary angiography. Patients with ST-elevation MI were randomized to receive aspirin and either rt-PA and UFH for 48 h, or rt-PA and dalteparin for 4 to 7 days. Evaluation was by TIMI flow after 4 to 7 days and clinical events (death, reinfarction, or revascularization) up to 30 days. There was a clear trend toward greater TIMI 3 flow with dalteparin compared with UFH. There was significantly less TIMI 0-1 flow or thrombus in the dalteparin group. Bleeding rates were similar. The occurrence of reinfarction was reduced during dalteparin treatment. These findings suggest that dalteparin could be substituted for UFH as an adjunct to rt-PA/aspirin in the management of patients with AMI.

[Thrombosis of mechanical tricuspid valve. Thrombolysis should be considered as a first line approach]. / Trombotiserad mekanisk trikuspidalklaff. Trombolys bör övervägas i första hand.

This report describes a 60-year old man who three years earlier, due to tricuspid endocarditis, had undergone surgery entailing insuturation of a Carbomedic valve prosthesis. He was admitted via the emergency room with clinical signs of right heart failure, and he reported that he had not heard the valve sound for two to three weeks. Cineradiography revealed a dysfunction of the tricuspid valve prosthesis, with the bileaflet tilting disc closed in the opening position. Thrombolytic therapy was successful. We review the literature on obstructed mechanical prosthetic valves and on the use of thrombolysis.

[Ventilator treatment at home--experiences with old and new methods]. / Ventilatorbehandling i hemmet--erfarenheter av gamla och nya metoder.

Nocturnal ventilation in respiratory insufficiency due to neuromuscular disease and/or thoracic deformity leads to improvement in the quality of life and daytime arterial blood gases, and also in survival. Several methods for nocturnal ventilation are now available. In this paper we report our experiences of treatment with nocturnal ventilation with various methods in 26 patients in Gothenburg. We conclude that respiratory insufficiency due to neuromuscular disease and/or primary treatment for thoracic deformity should be nocturnal positive pressure ventilation via a nasal mask. If this treatment fails positive pressure ventilation should be administered via special mouth pieces or via tracheostoma.

Long-term effects of spinal cord stimulation on angina symptoms and quality of life in patients with refractory angina pectoris--results from the European Angina Registry Link Study (EARL).

OBJECTIVE: To assess the long-term effect of spinal cord stimulation (SCS) on angina symptoms and quality of life in patients with refractory angina pectoris defined as severe angina due to coronary artery disease resistant to conventional pharmacological therapy and/or revascularisation. METHODS: During 2003-2005, all patients with refractory angina referred for SCS treatment at 10 European centres were consecutively included in the European registry for refractory angina (European Angina Registry Link, EARL), a prospective, 3-year follow-up study. In the present study, the SCS-treated patients were followed-up regarding angina symptoms and quality of life assessed was with a generic (Short Form 36, SF-36) and a disease-specific (Seattle Angina Questionnaire, SAQ) quality of life questionnaire. RESULTS: In total, 235 patients were included in the study. After screening, 121 patients were implanted and followed up 12.1 months after implantation. The implanted patients reported fewer angina attacks (p<0.0001), reduced short-acting nitrate consumption (p<0.0001) and improved Canadian Cardiovascular Society class (p<0.0001). Furthermore, quality of life was significantly improved in all dimensions of the SF-36 and the SAQ. Seven (5.8%) of the implanted patients died within 1 year of follow up. CONCLUSIONS: SCS treatment is associated with symptom relief and improved quality of life in patients with refractory angina pectoris suffering from severe coronary artery disease.

Neurogenic pulmonary oedema. A review of the pathophysiology with clinical and therapeutic implications.

Five cases of neurogenic pulmonary oedema (NPE) are described. The causes were mechanical trauma to the skull, subarachnoid haemorrhage and epileptic seizure. In every case a frank pulmonary oedema was diagnosed that resolved within a few days. Treatment of the underlying disease resulted in a favourable outcome. The literature has been reviewed. The basic mechanism seems to be an increased intracranial pressure (ICP) precipitating an increased central sympathetic nerve activity mediated via peripheral alpha- or beta-adrenergic discharge. NPE results from a predominant alpha-receptor stimulation with massive increase in pre- and afterload. The major therapeutic efforts should be directed towards the underlying cause and, in addition, mechanical ventilation with passive hyperventilation is vital. High positive end-expiratory pressure should not be used without strict monitoring of ICP.

Left ventricular pump function before and after aortocoronary bypass surgery.

Ten patients with severe effort angina and with left ventricular dysfunction during exercise before operation underwent haemodynamic and angiographic studies in average 20 months after coronary artery bypass surgery. Five patients (50%) were completely asymptomatic after operation(group I). The other five (group II) were still limited physically because of anginal pain, although two were much improved. Pre-operatively there was no significant difference in the severity of the disease, as judged from case histories, work tests and haemodynamic and angiographic findings between the two groups. The working capacity of the patients in group II was not increased significantly post-operatively. Their coronary arteriograms revealed unsatisfactory surgical results. In two patients, one significantly stenosed vessel was not bypassed because of poor run-off. In the other three patients, one graft was closed. Left ventricular function curves showed no significant improvement of left ventricular pump function. In group I, working capacity increased significantly, all stenoses of major coronary vessels were bypassed and all grafts were patent. Left ventricular function showed an almost normal response during exercise. These findings suggest that left ventricular dysfunction due to ischaemia can be significantly improved by coronary bypass and that there is a good correlation between clinical, haemodynamic and angiographic findings.

Pulmonary function in adolescent idiopathic scoliosis: a 25 year follow up after surgery or start of brace treatment.

BACKGROUND: Pulmonary function in patients with adolescent idiopathic scoliosis many years after posterior spinal surgery or brace treatment has not been documented. METHODS: A consecutive group of patients treated by posterior fusion or a brace at least 20 years previously was investigated. 90% attended a clinical follow up. Lung volumes were determined before treatment in 251 patients, 1.4 years after surgery in 141 patients, and 25 years after surgery or start of brace treatment in 110 patients. Vital capacity (VC) was calculated as percentage predicted according to height and age and the results were corrected for loss of height due to scoliosis. Scoliosis angles were measured and smoking habits were recorded. An age and sex matched control group was also examined with the same questionnaire and pulmonary function tests. RESULTS: VC increased from 67% predicted immediately before surgery to 73% (p<0.001) after surgery and to 84% (p<0.001) at the present follow up, mean change 10.8% (95% CI 9.5 to 12.1). In the brace treated patients VC increased from 77% predicted before treatment to 89% (p<0.001) 25 years after start of treatment, mean change 12.3% (95% CI 10.5 to 14.1). The mean Cobb angle at the present follow up study was 40 degrees in both surgically and brace treated patients. The present results of lung volumes did not correlate with pretreatment or post-treatment Cobb angles or smoking habits. CONCLUSIONS: Patients treated by posterior fusion or a brace gradually increase their pulmonary function up to 25 years after treatment. Smoking and curve size are not risk factors for reduced pulmonary function.

Lung function in adult idiopathic scoliosis: a 20 year follow up.

Severe idiopathic scoliosis may lead to respiratory failure, which can be treated by assisted ventilation. Twenty four patients with surgically untreated idiopathic scoliosis who had been examined in 1968 were re-examined in 1988 to assess changes in lung function and risk factors for respiratory failure. The patients were aged 15-67 years in 1968 and had a scoliotic angle of 10-190 degrees and a vital capacity of 1.0-6.0 litres. Spirometric values and scoliotic angles were determined in 1968 and 1988, and arterial blood gas tensions in 1988. The decline in spirometric values over the 20 years was of the same magnitude as the predicted decline due to aging. Arterial blood gas tensions in 1988 were strongly correlated with the scoliotic angles and spirometric indices recorded in 1968. Hypoxaemia and hypercapnia was seen in four patients in 1988 (then aged 43-67 years) and these were the four patients who had a vital capacity below 43% predicted in 1968. The remaining 20 patients had blood gas values within normal limits. Two further patients had died from respiratory failure before 1988, so a total of six patients had developed respiratory failure. In a multiple logistic analysis vital capacity expressed as % predicted in 1968 was the strongest predictor of the development of respiratory failure, followed by the scoliotic angle. Respiratory failure occurred only in patients who had a vital capacity below 45% predicted in 1968 and an angle greater than 110 degrees. Thus respiratory failure develops in adults with scoliosis with a large angle and a low vital capacity when normal aging reduces the ventilatory capacity further. Such individuals merit close follow up.

Detector electrode introduced by mediastinoscopy for atrial triggered cardiac pacing. A follow-up of electrode function in 82 patients.

An atrial detector electrode was introduced by mediastinoscopy in 82 patients requiring permanent cardiac pacing. There were no complications. An adequate P wave was recorded in 80 patients. During the following week, the P wave became ineffective in 5 patients; angina occurred in 2 and atrial arrhythmias in 2. Atrially triggered ventricular pacing established in 73 patients and was followed in 71 patients for a period of 1 to 113 months. In 17 cases, it had to be terminated because of an ineffective or unstable P wave,in 6 cases because of atrial arrhythmias, and in 4 cases because of advanced age and recurrent infections. The method is technically simple and place little stress on the patient.