Chronic alveolar hypoxia due to disease or low atmospheric pressure at high altitude results in the development of hypoxic pulmonary hypertension. The effects of intermittent hypoxia on pulmonary hemodynamics in healthy men have not been studied. We aimed to investigate, prospectively, pulmonary hemodynamics in workers commuting between an elevation of 3700 and 4200 m (4-week working shift) and lowland, below 500 m (4 weeks of holiday). Pulmonary hemodynamics has been investigated by Doppler echocardiography in 26 healthy Caucasian males, mean age 42 +/- 9 yr. First at lowland (760 m) and next during the fourth week of work at high altitude. Investigations were repeated in 21 subjects 1 year later at the end of the high-altitude exposure. The third series of investigations was performed 2 yr after the initial ones in 10 subjects who earlier had shown the strongest hypoxic vasoconstriction. At lowland, subjects presented with normal pulmonary hemodynamics. At high altitude, mean pulmonary artery pressure (PAPm) rose from 14.7 +/- 2.7 mmHg to 25.8 +/- 8.3 mmHg. One year later the PAPm remained unchanged in hypoxic conditions (25.0 +/- 7.3 mmHg). At the end of a 2-year follow-up of 10 "hyperreactors," PAPm measured at the end of the hypoxic exposure was the same as at the initial investigation, averaging 28 +/- 4.0, 28 +/- 3.5, and 29 +/- 2.5 mmHg at the beginning and at 1 and after 2 yr of intermittent exposure to high altitude. We concluded that intermittent exposure to 4000 m lasting 3 yr does not lead to development of permanent pulmonary hypertension.
Hypertrophic cardiomyopathy (HCM) is a frequent, autosomal-dominant cardiac disease and manifests predominantly as left ventricular hypertrophy. Mutations in the cardiac beta-myosin heavy chain gene (MYH7) are responsible for the disease in about 30% of cases where mutations were identified. We clinically evaluated a large group of 147 consecutive HCM patients from three cardiology centers in Germany, Poland, and Kyrgyzstan according to the same protocol. The DNA of the patients was systematically analyzed in the whole coding region of the MYH7 gene using PCR, single-strand conformation polymorphism analysis, and automated sequencing. Eleven different missense mutations (including seven novel ones) in 11 unrelated patients were identified, showing a mutation frequency of 7.5% in the study population. We further examined the families of five patients (three of German, one of Polish, and one of Kyrgyz origin) with 32 individuals in total. We observed a clear, age-dependent penetrance with onset of disease symptoms in the fourth decade of life. Genotype-phenotype correlations were different for each mutation, whereas the majority was associated with an intermediate/malign phenotype. In conclusion, we report a systematic molecular screening of the complete MYH7 gene in a large group of consecutive HCM patients, leading to a genetic diagnosis in 38 individuals. Information about the genotype in an individual from one family could be very useful for the clinician, especially when dealing with healthy relatives in doubt of their risk about developing HCM. The increasing application of genetic screening and the increasing knowledge about genotype-phenotype correlations will hopefully lead to an improved clinical management of HCM patients.
Heiko Witt should have been included as the eleventh author of this paper. His affiliation is Charité
The degree of electrocardiographic changes in secondary ASD depends on its size. Giant defects are characterized by a frequent EHA deviation to the right, pronounced signs of right ventricular hypertrophy, and a higher prevalence of right bundle branch block.
Objective: to study clinical presentation, course variants and complications of Takayasu arteritis (AT) in Kyrgyz patients.Patients and methods. 75 Kyrgyz patients with a definite diagnosis of AT were included in the study, most of them were women (93.3%). The median age was 33 [23; 40] years, the median duration of the disease was 7 [3.0; 13.0] years. The anatomical type of vascular lesions was determined using the angiographic classification of R. Moriwaki et al., the AT activity – according to the BVAS index, the clinical stage of AT – using the R. Jefferson classification, the severity and prognosis of the disease – according to the K. Ishikawa classification. Highly sensitivity CRP (hsCRP) was assessed in 44 (58.67%) patients, interleukin 6 (IL6) – in 26 (34.7%). Instrumental procedures included duplex Doppler ultrasonography of peripheral arteries and contrast-enhanced computed pan aortography.Results and discussion. The mean age of AT onset was 24.4±9.4 years. The majority of patients had V anatomical type of vascular lesions (61.3%), vascular stage (89.3%), severe stenosis (54.7%) with predominant affection of the brachiocephalic trunk (68%), common carotid arteries (53.7 %) and renal (52%) arteries. Most patients (82.7%) at the time of inclusion in the study had a severe exacerbation of AT according to the BVAS index. An increase in hsCRP level was seen in 66% of cases, IL6 – in 31%. At the onset of AT, 20% of patients had fever, general weakness, weight loss, myalgia and/or arthralgia. 43% of patients had ≥2 complications. The clinical manifestations of AT were mainly characterized by cardiovascular pathology (77.3%) with the formation of relative aortic valve insufficiency (AVI) (93.1%) and kidney damage (57.3%) with the development of renovascular arterial hypertension (91%). At the first visit, more than one third of patients (37.3%) had irreversible damage, accompanied in half of them by AVI degree II or III.Conclusion. Young women predominated among Kyrgyz patients with AT. Most of the patients had anatomical type V AT (61.3%), vascular stage (89.3%), severe stenosis (54.7%), affection of the brachiocephalic trunk (68%), common carotid (57.3%) and renal (52%) arteries. Severe exacerbation of the disease was observed in 82.7% of patients. The presence of ≥2 complications worsened the prognosis of AT. The clinical manifestations of AT were characterized mainly by cardiovascular pathology (77.3%) and kidney damage (57.3%). In more than one third of patients (37.3%) AT was diagnosed late.
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