Health-related quality of life in Marfan syndrome: a 10-year follow-up.

BACKGROUND: Marfan syndrome, a rare hereditary connective tissue disorder caused by mutations in fibrillin-1, can affect many organ systems, especially the cardiovascular system. Previous research has paid less attention to health-related quality of life and prospective studies on this topic are needed. The aim of this study was to assess changes in health-related quality of life after 10 years in a Norwegian Marfan syndrome cohort. METHODS: Forty-seven Marfan syndrome patients ≥ 18 years were investigated for all organ manifestations in the 1996 Ghent nosology and completed the self-reported questionnaire, Short-Form-36 Health Survey, at baseline in 2003-2004 and at follow-up in 2014-2015. Paired sample t tests were performed to compare means and multiple regression analyses were performed with age, sex, new cardiovascular and new non-cardiovascular pathology as predictors. RESULTS: At 10-year follow-up: a significant decline was found in the physical domain. The mental domain was unchanged. Older age predicted a larger decline in physical health-related quality of life. None of the chosen Marfan-related variables predicted changes in any of the subscales of the Short-Form 36 Health Survey or in the physical or the mental domain. CONCLUSION: Knowledge of decline in the physical domain, not related to organ affections, may be important in the follow-up of Marfan syndrome patients.

Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.

BACKGROUND: To explore survival, causes of death, and the prevalence of cardiovascular events in a Norwegian Marfan syndrome (MFS) cohort. MFS is a heritable connective tissue disorder associated with reduced life expectancy-primarily due to aortic pathology. METHODS: A follow-up study of 84 MFS adults, initially investigated in 2003-2004. In 2014-2015, 16 were deceased, 47 of 68 survivors consented to new clinical investigations. Analyses of events were performed for 47 survivors and 16 deceased at follow-up. Standardized mortality ratios (SMR), using the mortality rate of the Norwegian population as reference, were calculated for all 84 and calculated for men and women separately. Causes of death and information on cardiovascular events were retrieved from death certificates and medical records. RESULTS: Standardized mortality ratios (95% confidence interval): for the whole cohort: 5.24 (3.00-8.51); for men: 8.20 (3.54-16.16); for women: 3.85 (1.66-7.58). Cardiovascular causes were found in 11 of 16 deceased, eight of these related to aortic pathology. Cancer was the cause of death in three patients. At follow-up, 51% had new cardiovascular events; 59% had undergone aortic surgery. Men experienced aortic events at younger age than women. 32% of the survivors were not followed-up as recommended. CONCLUSION: Life expectancy is reduced in this MFS cohort compared to the Norwegian population. Cardiovascular complications develop throughout life, particularly aortic pathology, the major cause of death in MFS. Death and aortic pathology seem to occur earlier in men. There is a need to improve follow-up according to guidelines.

Airway complications after lung transplantation: long-term outcome of silicone stenting.

BACKGROUND: Airway complications remain a significant cause of morbidity after lung transplantation. The majority of the centres that have published their results have used metal stents. OBJECTIVES: We report the long-term outcome of silicone stenting and subsequent stent removal in lung transplant recipients with stenotic airway complications. METHOD: From 1990 to 2008, 279 patients received 88 single, 170 double, and 21 heart-and-lung transplantations. Of 470 anastomoses at risk, 44 airway complications developed and were treated in 35 patients. Six lesions were treated with Nd:YAG laser and balloon dilatations only. Thirty-two silicone stents of Hood or Dumont type were inserted in 27 patients. RESULTS: Symptoms were relieved and FEV(1) increased in all patients (median 0.7 litres, range 0.1-1.8 litres, p < 0.0001). In 8 patients, stents had to be repositioned or reinserted, in 19 patients only one insertion and one removal procedure were necessary. One patient suffered a serious complication with haemorrhage and pneumonectomy, 3 patients had minor airway wall injuries resolving spontaneously. Six patients died with the stents from causes not related to the airway complications. Twenty-five stents could be removed after a median of 6 months (range 1-22) in 21 patients, and 22 airways remained patent. Median FEV(1) was 2.3 litres immediately after stent removal, and remained 2.3 litres after 24 months. CONCLUSION: Stenotic airway complications after lung transplantation can be successfully treated with silicone stents, which can ultimately be removed, leaving a patent airway.

[Tracheal resections]. / Trakealreseksjoner.

BACKGROUND: Tracheal resection is a valuable treatment option in patients with primary localized tumours and in selected patients with post-tracheostomy stenosis. The main symptom is dyspnoea on activity. Tracheal tumour is a rare condition with adenoid cystic carcinoma as the dominant malignant type, whereas papilloma is the most common benign lesion. MATERIAL AND METHODS: In our institution we performed eight tracheal operations from 1989 to 2002. Five patients had malignant tumours and three post-tracheostomy stenosis. The patients were reevaluated with endoscopy. RESULTS AND INTERPRETATION: Four patients with carcinomas underwent tracheal resection and direct anastomosis. One patient had postoperative irradiation due to carcinoma cells in the resection margin and died five years later. In one patient local infiltration outside the tracheal wall rendered him inoperable. Two of the three patients with benign stenoses had recidivations and underwent endoscopic dilatation and stenting. Patients with localized malignant tumours and selected patients with benign tracheal stenoses may benefit from tracheal resection. Tracheal stenosis is an important differential diagnosis in patients with airway obstruction that does not respond to pharmacological treatment.