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Contains fulltext : 173121.pdf (Publisher’s version ) (Open Access) BACKGROUND: Primary aldosteronism is one of the most common causes of secondary hypertension. Adrenal vein sampling (AVS) remains a "gold standard" procedure in differentiation between unilateral (adenoma) and bilateral (hyperplasia) disease. AIM: The aim of this study was to present our single-centre experience in establishing and implementating the AVS procedure. METHODS: All patients had primary aldosteronism confirmed in a salt-infusion test. AVS was performed sequentially during a continuous intravenous infusion of cosyntropin and was preceded by multislice contrast-enhanced computed tomography (CT) examination of adrenal glands performed a few weeks before AVS in the majority of patients. AVS was regarded as successful if the ratio of each adrenal vein cortisol to inferior vena cava cortisol levels (selectivity index [SI]) was higher than 3.0. In the case of failure, a second attempt was considered in a few weeks. Patients were divided into four groups according to the order of the procedure by quartiles. RESULTS: Between 31 May, 2012 and 5 May, 2016, AVS was performed in 124 patients (69% males, aged 55.3 +/- 10.3 years) and was successful in 120 (96.8%) patients. All failed cases were due to the failure of cannulation of the right adrenal vein. The first-attempt success rate was 94.3% (117 of 124 patients) and increased from 83.9% in the first 31 patients to 100% in the last 31 patients. Similarly, the overall success rate increased from 93.5% to 100%. The right SI was significantly higher than the left one (26.4 vs. 11.0, p < 0.0001). Both indices did not differ across quartiles of patients. No complications occurred during the procedure. CONCLUSIONS: The AVS procedure, preceded by adrenal CT, may be implemented into daily diagnostic practice safely with an excellent success rate.

Background: Increased ultrasound Doppler renal resistive index (RRI) is a marker of atherosclerotic and hypertensive organ damage both at renal and systemic level. Aim: To evaluate RRI in patients with true resistant hypertension (TRHT) in the RESIST-POL study. Methods: From 204 patients diagnosed with TRHT in the RESIST-POL study, 151 patients (90 male, 61 female, mean age: 47.7 ± 10.4, range: 19–65 years) without secondary hypertension were included into the analysis. All patients were charac­terised by estimated glomerular filtration rate > 60 mL/min/1.73 m2 and no history of diabetes prior to the study. As a control group we included 50 age- and gender-matched patients (35 male, 15 female, mean age: 46.8 ± 10.4, range: 19–65 years) with primary well-controlled hypertension. The groups also did not differ in respect to the number of years of known history of hypertension. The RRIs were evaluated on the basis of the Doppler ultrasound examination. Increased RRI was defined as ≥ 0.7. Results: Both groups did not differ in terms of renal function. Patients with TRHT were characterised by higher RRI as com­pared with the group with well-controlled hypertension (0.62 ± 0.05 vs. 0.60 ± 0.05, p < 0.05). In the TRHT group RRI correlated significantly with age, clinic and ambulatory blood pressure measurement, diastolic blood pressure (DBP) levels, as well as with clinic pulse pressure (PP) (r = 0.297; p = 0.001), with daytime (r = 0.355; p < 0.001) and nighttime (r = 0.313; p < 0.001) PP, and with fasting glucose concentration (r = 0.215; p = 0.008) and E/E’ ratio (r = 0.289; p = 0.001) on echocardiography. RRI values were significantly higher in TRHT patients with newly diagnosed diabetes as compared with TRHT patients without diabetes (0.65 ± 0.05 vs. 0.62 ± 0.05, p = 0.022). Age, daytime DBP, daytime PP, and E/E’ ratio but not fasting glucose concentration correlated independently with RRI in the model. Among patients with TRHT, patients with increased RRI were characterised by older age (52.2 ± 4.9 vs. 47.3 ± 10.6 years, p = 0.012), higher body mass index (32.8 ± 6.0 vs. 29.7 ± 4.5 kg/m2, p = 0.034), as well as lower daytime and nighttime DBP values and lower daytime and night­time heart rate, as compared to patients with RRI < 0.7. The TRHT patients with increased RRI as compared to patients with RRI < 0.7 were characterised also by higher daytime and nighttime PP. Both groups did not differ in respect of renal function. Conclusions: Our study showed that the patients with TRHT were characterised by significantly higher RRI values as compared to the subjects with well-controlled hypertension. It may also be suggested that in the subjects with TRHT renal vascular resis­tance is related to blood pressure values, selected echocardiographic abnormalities, and some surrogate markers for metabolic and cardiovascular events, including fasting glucose plasma concentration and PP, respectively.

The aim of this study was to assess the usefulness of somatostatin receptor scintigraphy (SRS) using (99m)Tc-[HYNIC, Tyr3]-octreotide (TOC) and 123I-metaiodobenzylguanidine (mIBG) in patients with SDHx-related syndromes in which paragangliomas were detected by computed tomography and to establish an optimal imaging diagnostic algorithm in SDHx mutation carriers.All carriers with clinical and radiological findings suggesting paragangliomas were screened by SRS and 123I-mIBG. Lesions were classified by body regions, i.e. head and neck, chest, abdomen with pelvis and adrenal gland as well as metastasis.We evaluated 46 SDHx gene mutation carriers (32 index cases and 14 relatives; 28 SDHD, 16 SDHB and 2 SDHC). In this group, 102 benign tumors were found in 39 studied patients, and malignant disease was diagnosed in 7 patients. In benign tumors, the sensitivity of SRS was estimated at 77% and of 123I-mIBG at 22.0%. The SRS and mIBG sensitivity was found to be clearly region dependent (p0.001). The highest SRS sensitivity was found in head and neck paragangliomas (HNP; 91.4%) and the lowest was found in abdominal paragangliomas and pheochromocytomas (40 and 42.9%, respectively). The highest 123I-mIBG sensitivity was found in pheochromocytomas (sensitivity of 100%) and the lowest in HNP (sensitivity of 3.7%). In metastatic disease, SRS was superior to mIBG (sensitivity of 95.2 vs. 23.8%, respectively).SRS and 123I-mIBG single photon emission computed tomography (SPECT) sensitivity in SDHx patients is highly body region dependent. In malignant tumors, SRS is superior to 123I-mIBG SPECT.

Over a period of 5 years, 124 patients were operated on at the National Institute of Cardiology in Warsaw for acute aortic dissection, 27 of whom died. The 97 patients discharged from the hospital were included in the present analysis. The age of the patients ranged from 25 to 73 years with a mean of 50±10 years. Ultrasound examination of carotid arteries was performed with the patient lying on his back using a Toshiba 340A color Doppler system with a linear array probe of 7.5 MHz. Of the 97 patients examined, 15 (15%) had a dissection of at least one of the common carotid arteries (CCA). Two had Marfan syndrome. In 11 patients the dissection involved the right common carotid artery and in four it involved both the left and right common carotid arteries. The flow in the true lumen of CCA and ICA was preserved in all patients and the degree of narrowing ranged from 30 to −70%. Only one of the 15 patients with CCA dissection had an ipsilateral neurological deficit which was already present before the aortic aneurysm operation. Ultrasound follow-up was performed in all patients with the CCA dissection found on first examination. The mean duration of follow-up was 21 months. In 14 patients the degree and extent of the dissection as well as the narrowing of the true lumen was comparable, and in one patient the false channel closed spontaneously. During follow-up there were no new major neurological events despite the persistence of the CCA dissection with different degrees of narrowing of the true lumen. Doppler ultrasound examination of the carotid arteries can supply additional information about the extent of the dissection, and help to assess the flow in the persisting ‘double channel' common carotid artery during the follow-up of patients.

Wstep: Celem analizy byla ocena związku pomiedzy pierwotnym hiperaldosteronizmem (PA) i obturacyjnym bezdechem sennym (OBS) w relacji do nasilenia zaburzen metabolicznych i zmian struktury i funkcji lewej komory (LV) serca u chorych z prawdziwie opornym nadciśnieniem tetniczym (OPNT) wlączonych do badania RESIST-POL. Material i metody: Badaniem objeto 204 chorych (123 M, 81 K, średni wiek 48,4 lat) z OPNT, eGFR > 60 ml/min/1,73 m2 i bez rozpoznanej wcześniej cukrzycy. Istotny klinicznie OBS zdefiniowano, jako wskaźnik bezdechow i oddechow splyconych (AHI) > 15/h. Oceniono skladowe zespolu metabolicznego (MS). W badaniu echokardiograficznym oceniono: przerost LV (LVH), koncetnryczną przebudowe LV (RWT > 0,45), predkośc fali E’, wskaźnik E/E’ i globalne odksztalcenie wlokien podluznych (GLS). Wyniki: PA rozpoznano u 32 chorych (15,7%). OBS wystepowal cześciej u chorych z PA (59,4 v. 42,4%; p = 0,058). Chorych podzielono na cztery grupy: PA+ OBS+ , PA+ OBS-, PA-OBS+ and PA– OBS–. Świezo wykryta cukrzyca, podwyzszone stezenie glukozy na czczo i podwyzszone stezenie glukozy po obciązeniu glukozą wystepowaly najcześciej w grupie PA+ OBS +. OBS związany byl z czestszym wystepowaniem koncentrycznej przebudowy LV, podczas gdy PA związany byl z wyzszą masą LV i czestszym wystepowaniem LVH. W grupach PA+ OBS+ I PA+ OBS – najczestszymi typami geometrii LV byly odpowiednio: przerost koncentryczny (68,4%) i przerost ekscentryczny (54,5%). Predkośc fali E’ byla najnizsza i wskaźnik E/E’ byl najwyzszy w grupie PA+ OBS +. GLS byl nizszy u chorych z OBS w porownaniu z chorymi bez OBS. Wnioski: Zarowno zaburzenia metaboliczne jak i nasilenie zmian narządowych byly najbardziej wyrazone u chorych z OPNT, u ktorych wspolistnialy PA i OBS. PA i OBS w rozny sposob wplywaly na geometrie LV. (Endokrynol Pol 2013; 64 (5): 363–367)

Mid-aortic syndrome (MAS) is characterised by narrowing of the abdominal aorta, often with involvement of the renal and splanchnic arterial branches. Although uncommon, MAS is an important cause of renovascular hypertension in children and adolescents and should be considered in the differential diagnosis of hypertension . Hypertension is typically severe and often difficult to manage. The management of MAS should always be individualised and may include percutaneous transluminal renal angioplasty, stent implantation or surgical revascularisation. We present a 18 year-old woman with hypertension and MAS coexisting with bilateral renal artery stenosis who underwent left renal artery angioplasty and than was followed-up for one year.

Acute aortic dissection is a rare but potentially lethal disease characterized by high early mortality when left untreated. However, survival may be significantly improved by the timely institution of appropriate medical and/or surgical therapy. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders, accounting for 8-10% of the cases of end-stage renal disease. Hypertension occurs frequently and is an early manifestation of ADPKD in approximately 50-70% of non-azotemic patients. ADPKD, often caused by mutations in the PKD1 gene, is associated with life-threatening vascular abnormalities that are commonly attributed to the frequent occurrence of hypertension.We present two cases of hypertensive patients with acute aortic dissection (type A Stanford) coexisting with ADPKD.A 54-year-old male hypertensive patient and a 47-year-old male hypertensive patient, both with known ADPKD were diagnosed and operated with acute dissection of ascending aorta. Both patients were characterized by severe hypertension; therefore, in both cases, degree of hypertension is likely to be causative for this vascular complication. However, since ADPKD is associated with the vascular complications mentioned above, abnormality of the structure of the arterial wall of the thoracic aorta cannot be ruled out.Aortic dissection is a rare but potentially disastrous complication, and clinicians should always consider this when dealing with patients with ADPKD who present with chest pain or collapse.

Primary aldosteronism (PA) is a secondary form of hypertension resulting from the autonomous hypersecretion of aldosterone. The recognition of PA has an important impact on clinical management, since the choice of therapy is different - surgical for adenoma and medical for hyperplasia.To evaluate patients with PA in regard to clinical and biochemical factors differentiating between adenoma of adrenal cortex (APA) and idiopathic adrenal hyperplasia (IHA).We retrospectively analysed 62 patients with PA (33 females, 29 males, mean age 49.3+/-12.5 years, range 26-78) diagnosed in the Department of Hypertension between 1990-2001. In 37 patients (mean age 47.4+/-12.1 years, 22 females, 15 males) APA was diagnosed whereas in the remaining 26 patients (mean age 52.2+/-12.6 years, 14 males, 11 females) IHA was detected. Clinical manifestation, biochemical, serum aldosterone (SA), plasma renin activity (PRA) as well as echocardiographic parameters and blood pressure (BP) levels were evaluated. Diagnostic accuracy of computed tomography (CT) and scintigraphy was also assessed.Mean systolic BP was significantly higher in the patients with APA. Both groups had similar mean diastolic BP. Severe hypertension, resistant to three or more medications, was found in 63.3% of all patients. Muscle weakness was reported by 39.7% of patients, polyuria - by 19%, and polydypsia - by 10.3% of patients. Patients with muscle weakness had higher mean systolic BP level and lower plasma potassium level than patients without this complaint. Symptoms suggesting cardiac arrhythmia were reported by 45% of patients. A normal potassium level was found in 25.8% of all patients. The hypokalemic patients were younger, had shorter known duration of hypertension, higher mean systolic BP level and higher SA concentration than the normokalemic patients. Supine SA levels were significantly higher in the APA group than in the IHA group (50.3+/-29.0 ng% vs 30.5+/-14.7 ng%; p0.001). The SA/PRA ratio higher than 30:1 was found in all patients. Response to postural test with a rise in SA concentration higher than 30% was observed in 40% patients with APA and in 87.5% patients with IHA (p0.0001). There was a strong correlation between supine and upright SA level, and systolic and diastolic BP level as well as plasma potassium level. Left ventricular hypertrophy was present in 60% of patients. The differentiation between APA and IHA was possible using CT, scintigraphy or both methods in 75%, 89.2% and 100% of patients, respectively.One quarter of patients with PA were normokalemic. PA should be suspected especially in patients with severe hypertension, resistant to three or more antihypertensive drugs. Changes in SA concentration during the postural tests such as CT and scintigraphy are useful for differentiation between APA and IHA.

Background Thoracic aortic aneurysms and dissections (TAAD) are silent but possibly lethal condition with up to 40 % of cases being hereditary. Genetic background is heterogeneous. Recently next-generation sequencing enabled efficient and cost-effective examination of gene panels. Aim of the study was to define the diagnostic yield of NGS in the 51 TAAD patients and to look for genotype–phenotype correlations within families of the patients with TAAD. Methods 51 unrelated TAAD patients were examined by either whole exome sequencing or TruSight One sequencing panel. We analyzed rare variants in 10 established thoracic aortic aneurysms-associated genes. Whenever possible, we looked for co-segregation in the families. Kaplan–Meier survival curve was constructed to compare the event-free survival depending on genotype. Aortic events were defined as acute aortic dissection or first planned aortic surgery. Results and discussion In 21 TAAD patients we found 22 rare variants, 6 (27.3 %) of these were previously reported, and 16 (73.7 %) were novel. Based on segregation data, functional analysis and software estimations we assumed that three of novel variants were causative, nine likely causative. Remaining four were classified as of unknown significance (2) and likely benign (2). In all, 9 (17.6 %) of 51 probands had a positive result when considering variants classified as causative only and 18 (35.3 %) if likely causative were also included. Genotype-positive probands (n = 18) showed shorter mean event free survival (41 years, CI 35–46) than reference group, i.e. those (n = 29) without any plausible variant identified (51 years, CI 45–57, p = 0.0083). This effect was also found when the ‘genotype-positive’ group was restricted to probands with ‘likely causative’ variants (p = 0.0092) which further supports pathogenicity of these variants. The mean event free survival was particularly low (37 years, CI 27–47) among the probands with defects in the TGF beta signaling (p = 0.0033 vs. the reference group). Conclusions This study broadens the spectrum of genetic background of thoracic aneurysms and dissections and supports its potential role as a prognostic factor in the patients with the disease. Electronic supplementary material The online version of this article (doi:10.1186/s12967-016-0870-4) contains supplementary material, which is available to authorized users.