PulmoCor: National registry for pulmonary hypertension

Contains fulltext : 171308.pdf (publisher's version ) (Open Access

FLNC missense variants in familial noncompaction cardiomyopathy

The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLNC) have been linked to HCM and DCM. We expand the spectrum of FLNC related cardiomyopathies by presenting two families with likely pathogenic FLNC variants showing familial segregation of NCCM and concurrent coarctation of the aorta and/or mitral valve abnormalities

Large common left and right coronary artery to coronary sinus fistula

Coronary fistulas are vascular anomalies which in rare cases can cause hemodynamic problems with indication for intervention. We report about a 47-year-old man with a large coronary fistula arising from both, the left and right coronary artery. To our knowledge this is the first case described with this anatomy. The main coronary arteries were united at the crux cordis and drained through the coronary sinus into the right atrium. As a consequence of the longstanding volume overload the coronary arteries were extremely dilated. Also, both ventricles were dilated. Therefore, although the patient was asymptomatic, the obvious compromise of the ventricles due to volume overload was regarded as an indication for surgical intervention. (copyright) 2006 Published by European Association for Cardio-Thoracic Surgery. All rights reserve

Acute myeloid leukaemia as a cause of acute ischaemic heart disease

Ischaemic heart disease is almost invariably the result of atherosclerotic degeneration of the coronary arteries. However, other causes of ischaemic heart disease should always be considered. Here we describe two patients with a classic presentation of ischaemic heart disease resulting from acute leukaemia. The pathophysiological mechanisms of acute leukaemia leading to ischaemic heart disease are discussed

Decrease in quality of life predicts mortality in adult patients with pulmonary arterial hypertension due to congenital heart disease

Contains fulltext : 154944.pdf (publisher's version ) (Open Access)BACKGROUND: Decrease in quality of life (QoL) in left-sided heart failure precedes poor survival, which can be reversed with exercise training. We investigated whether QoL is associated with mortality in pulmonary arterial hypertension due to congenital heart disease (PAH-CHD) patients. METHODS: In this observational study, PAH-CHD adults referred for PAH-specific therapy were included. QoL surveys (SF36) were recorded during 2 years of therapy. Based on shift in SF36 scores during this period, patients had either decreased or non-decreased QoL. Subsequently, the patients were followed for mortality. RESULTS: Thirty-nine PAH-CHD patients (mean age 42, 44 % male, 49 % Down's syndrome) were analysed. Following PAH-specific therapy, SF36 physical component summary (PCS) decreased in 13 (35-31 points, p = 0.001) and showed no decrease in 26 patients (34-43 points, mean values, p < 0.001). Post-initiation phase, median follow-up was 4.5 years, during which 12 deaths occurred (31 %), 10 (56 %) in the decreased and 2 (10 %) in the non-decreased group (p = 0.002). Cox regression showed a decrease in SF36 PCS predicted mortality (HR 3.4, 95 % CI 1.03-11, p = 0.045). CONCLUSIONS: In PAH-CHD patients, decrease in SF36 PCS following initiation of PAH-specific therapy is a determinant of mortality

Atherosclerosis in patients with cyanotic congenital heart disease.

Contains fulltext : 88391.pdf (publisher's version ) (Open Access)BACKGROUND: Cyanotic patients with congenital heart disease (CHD) might be protected against atherosclerosis. METHODS AND RESULTS: Atherosclerotic risk factors and carotid intima - media thickness (IMT) were investigated in adults with cyanotic CHD and in unaffected age- and sex-matched controls. Fifty-four cyanotic patients (30 men, mean age 38, range 19-60 years) and 54 controls were included. Mean transcutaneous saturation of the cyanotic patients was 81+/-6%. Mean carotid IMT adjusted for age was significantly decreased in cyanotic patients compared to controls (0.55+/-0.1 mm vs 0.58+/-0.08 mm: DeltaIMT =0.04 mm [SE 0.015], P=0.01). In cyanotic patients lower total cholesterol levels were observed (4.4+/-1 mmol/L vs 4.9+/-1 mmol/L; P=0.02), as well as lower thrombocyte levels (173+/-81 x 10(9) /L vs 255+/-54 x 10(9) /L; P<0.01), higher bilirubin levels (18.6+/-11 micromol/L vs 12.7+/-6 micromol/L; P<0.01), and lower diastolic and systolic blood pressure (71+/-9 mmHg vs 76+/-9 mmHg, P<0.01; 113+/-14 mmHg vs 124+/-12 mmHg, P<0.01, respectively). CONCLUSIONS: In patients with cyanotic CHD carotid IMT, and hence atherosclerosis disease risk, was decreased. This might be due to a combination of reduced atherosclerotic risk factors such as lower blood pressure, lower total cholesterol levels, higher bilirubin levels and lower thrombocyte levels

Down patients with Eisenmenger syndrome: Is bosentan treatment an option?

Contains fulltext : 80912.pdf (publisher's version ) (Closed access)BACKGROUND: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. METHODS: In this open-label study, 24 Down patients (>18 years) with Eisenmenger syndrome (17 males) were treated with bosentan. Their mean age was 38 years (range 19-55 years). All Down patients were evaluated at baseline and during follow-up with laboratory tests, six-minute walk test (6-MWT), Doppler echocardiography, and quality of life questionnaires. RESULTS: The median follow-up of Down patients treated with bosentan was 11.5 months (range 3-23 months). Induction of oral bosentan therapy was well tolerated among all 24 Down patients. Bosentan treatment was generally well tolerated. No serious adverse drug reactions were noted. Median 6-MWT increased from 296 m (range 40-424 m) to 325 m (range 84-459 m, p<0.05) after 12 weeks. After 26 and 52 weeks of treatment with bosentan, median 6-MWT distance was 276 m (range 140-462 m, n=15, p=0.6) and 287 m (range 131-409 m, n=7, p=0.3), respectively. Quality of life questionnaire scores remained stable during treatment. CONCLUSION: Also patients with Down syndrome may benefit from bosentan treatment when they have Eisenmenger syndrome. Medical treatment appears to be safe and the treatment effects do not deviate from those observed in Eisenmenger patients without Down syndrome