The Effects of Below-Knee Medical Compression Stockings on Pulse Wave Velocity of Young Healthy Volunteers.

ABSTRACT: Szolnoky, G, Gavallér, H, Gönczy, A, Bihari, I, Kemény, L, Forster, T, and Nemes, A. The effects of below-knee medical compression stockings on pulse wave velocity of young healthy volunteers. J Strength Cond Res 35(1): 275-279, 2021-The effects of graduated medical compression stockings (MCS) on cardiovascular responses are poorly investigated. A simple study was undertaken to investigate whether the application of below-knee leg MCSs with different pressures could influence aortic pulse wave velocity (PWV) as the gold standard for aortic stiffness measurement evaluated by arteriography. Ten volunteers underwent PWV measurement at baseline, then in below-knee compression class (ccl) 1 (18-21 mm Hg), 2 (23-32 mm Hg) and 3 (34-46 mm Hg) MCSs in a consecutive manner. Baseline PWV (mean value: 7.86 ± 1.70 m·s-1) was significantly reduced by ccl 1 MCSs (mean value: 6.55 ± 0.88 m·s-1, p = 0.04). ccl 2 and ccl 3 stockings also notably decreased baseline PWV (mean values: 6.63 ± 0.65 m·s-1, p = 0.058 and 6.62 ± 1.00 m·s-1, p = 0.067; respectively). The application of low compression MCSs (ccl 1) leads to a significant decrease in PWV indicating a beneficial cardiovascular influence.

Antiinflammatory Therapy with Canakinumab for Atherosclerotic Disease.

BACKGROUND: Experimental and clinical data suggest that reducing inflammation without affecting lipid levels may reduce the risk of cardiovascular disease. Yet, the inflammatory hypothesis of atherothrombosis has remained unproved. METHODS: We conducted a randomized, double-blind trial of canakinumab, a therapeutic monoclonal antibody targeting interleukin-1ß, involving 10,061 patients with previous myocardial infarction and a high-sensitivity C-reactive protein level of 2 mg or more per liter. The trial compared three doses of canakinumab (50 mg, 150 mg, and 300 mg, administered subcutaneously every 3 months) with placebo. The primary efficacy end point was nonfatal myocardial infarction, nonfatal stroke, or cardiovascular death. RESULTS: At 48 months, the median reduction from baseline in the high-sensitivity C-reactive protein level was 26 percentage points greater in the group that received the 50-mg dose of canakinumab, 37 percentage points greater in the 150-mg group, and 41 percentage points greater in the 300-mg group than in the placebo group. Canakinumab did not reduce lipid levels from baseline. At a median follow-up of 3.7 years, the incidence rate for the primary end point was 4.50 events per 100 person-years in the placebo group, 4.11 events per 100 person-years in the 50-mg group, 3.86 events per 100 person-years in the 150-mg group, and 3.90 events per 100 person-years in the 300-mg group. The hazard ratios as compared with placebo were as follows: in the 50-mg group, 0.93 (95% confidence interval [CI], 0.80 to 1.07; P=0.30); in the 150-mg group, 0.85 (95% CI, 0.74 to 0.98; P=0.021); and in the 300-mg group, 0.86 (95% CI, 0.75 to 0.99; P=0.031). The 150-mg dose, but not the other doses, met the prespecified multiplicity-adjusted threshold for statistical significance for the primary end point and the secondary end point that additionally included hospitalization for unstable angina that led to urgent revascularization (hazard ratio vs. placebo, 0.83; 95% CI, 0.73 to 0.95; P=0.005). Canakinumab was associated with a higher incidence of fatal infection than was placebo. There was no significant difference in all-cause mortality (hazard ratio for all canakinumab doses vs. placebo, 0.94; 95% CI, 0.83 to 1.06; P=0.31). CONCLUSIONS: Antiinflammatory therapy targeting the interleukin-1ß innate immunity pathway with canakinumab at a dose of 150 mg every 3 months led to a significantly lower rate of recurrent cardiovascular events than placebo, independent of lipid-level lowering. (Funded by Novartis; CANTOS ClinicalTrials.gov number, NCT01327846 .).

Impact of monitoring on detection of arrhythmia recurrences in the ESC-EHRA EORP atrial fibrillation ablation long-term registry.

AIMS: Monitoring of patients after ablation had wide variations in the ESC-EHRA atrial fibrillation ablation long-term (AFA-LT) registry. We aimed to compare four different monitoring strategies after catheter AF ablation. METHODS AND RESULTS: The ESC-EHRA AFA-LT registry included 3593 patients who underwent ablation. Arrhythmia monitoring during follow-up was performed by 12-lead electrocardiogram (ECG), Holter ECG, trans-telephonic ECG monitoring (TTMON), or an implanted cardiac monitoring (ICM) system. Patients were selected to a given monitoring group according to the most extensive ECG tool used in each of them. Comparison of the probability of freedom from recurrences was performed by censored log-rank test and presented by Kaplan-Meier curves. The rhythm monitoring methods were used among 2658 patients: ECG (N = 578), Holter ECG (N = 1874), TTMON (N = 101), and ICM (N = 105). A total of 767 of 2658 patients (28.9%) had AF recurrences during follow-up. Censored log-rank test discovered a lower probability of freedom from relapses, which was detected with ICM compared to TTMON, ECG, and Holter ECG (P < 0.001). The rate of freedom from AF recurrences was 50.5% among patients using the ICM while it was 65.4%, 70.6%, and 72.8% using the TTMON, ECG, and Holter ECG, respectively. CONCLUSION: Comparing all main electrocardiographic monitoring methods in a large patient sample, our results suggest that post-ablation recurrences of AF are significantly underreported by TTMON, ECG, and Holter ECG. The ICM estimates AF ablation recurrences most reliably and should be a preferred mode of monitoring for trials evaluating novel AF ablation techniques.

Transvenous lead extraction procedures in women based on ESC-EHRA EORP European Lead Extraction ConTRolled ELECTRa registry: is female sex a predictor of complications?

AIMS: Female sex is considered an independent risk factor of transvenous leads extraction (TLE) procedure. The aim of the study was to evaluate the effectiveness of TLE in women compared with men. METHODS AND RESULTS: A post hoc analysis of risk factors and effectiveness of TLE in women and men included in the ESC-EHRA EORP ELECTRa registry was conducted. The rate of major complications was 1.96% in women vs. 0.71% in men; P = 0.0025. The number of leads was higher in men (mean 1.89 vs. 1.71; P < 0.0001) with higher number of abandoned leads in women (46.04% vs. 34.82%; P < 0.0001). Risk factors of TLE differed between the sexes, of which the major were: signs and symptoms of venous occlusion [odds ratio (OR) 3.730, confidence interval (CI) 1.401-9.934; P = 0.0084], cumulative leads dwell time (OR 1.044, CI 1.024-1.065; P < 0.001), number of generator replacements (OR 1.029, CI 1.005-1.054; P = 0.0184) in females and the number of leads (OR 6.053, CI 2.422-15.129; P = 0.0001), use of powered sheaths (OR 2.742, CI 1.404-5.355; P = 0.0031), and white blood cell count (OR 1.138, CI 1.069-1.212; P < 0.001) in males. Individual radiological and clinical success of TLE was 96.29% and 98.14% in women compared with 98.03% and 99.21% in men (P = 0.0046 and 0.0098). CONCLUSION: The efficacy of TLE was lower in females than males, with a higher rate of periprocedural major complications. The reasons for this difference are probably related to disparities in risk factors in women, including more pronounced leads adherence to the walls of the veins and myocardium. Lead management may be key to the effectiveness of TLE in females.

Normal values of left ventricular rotational parameters in healthy adults-Insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Healthy Study.

INTRODUCTION: Left ventricular (LV) rotation and twist are essential parts of LV function. Three-dimensional speckle tracking echocardiography (3DSTE) is a relatively new method and is useful for the quantification of LV wall deformation and rotational parameters. The aim of the present study was to examine LV rotation and twist differences between different age-groups and genders in a healthy population. METHODS: The present study is comprised of 297 healthy adults; 120 adults have been excluded due to inferior image quality. The population was further divided into 4 subgroups based on age decades. RESULTS: Only the LV twist of all patients (13.5 ± 3.7 degree vs 15.6 ± 4.9 degree, P = 0.02) and the LV twist of females (13.0 ± 3.6 degree vs 15.5 ± 5.6 degree, P = 0.03) differed significantly between the age-group of 18-29 years and 50+ years. LV basal and apical rotation were not significantly different between the age-groups; however, they tendentiously increased with aging. No significant differences could be demonstrated regarding LV rotational and twist parameters between genders in any group. A phenomenon called LV rigid body rotation (LV-RBR)-where the base and apex of the LV rotate in the same direction-was present in 10 cases. CONCLUSIONS: Three-dimensional speckle tracking echocardiography seems to be a reasonably viable tool for the quantification of LV rotation and twist. Both LV basal and apical rotation and LV twist increase with aging, regardless of gender. LV-RBR is also present in the normal population.

The mitral annulus in lipedema: Insights from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study.

INTRODUCTION: Lipedema is a barely recognized and poorly diagnosed, but common disease affecting almost exclusively female patients. The pathomechanism of lipedema is not known, and clinically, it is a bilateral, symmetrical, disproportional fatty enlargement of the lower half of the body, the disease does not affect the feet, and the upper extremities are often involved. Since lipedema is associated with increased aortic stiffness and altered left ventricular (LV) rotational mechanics, the present study was designed to compare the size and function of the mitral annulus (MA) between lipedema patients and controls by three-dimensional speckle-tracking echocardiography (3DSTE). METHODS: Twenty-four patients with stage 2 lipedema and 48 age-, gender-, and body mass index-matched healthy control patients were included in the study. Each person from the lipedema and the control groups underwent two-dimensional Doppler echocardiography and 3DSTE. RESULTS: Significantly enlarged left atrial diameter, LV end-diastolic diameter and volume, and LV end-systolic volume could be detected in lipedema patients as compared to controls. None of the lipedema patients and controls showed ≥grade 1 mitral or tricuspid regurgitation. Dilated end-systolic and end-diastolic MA diameter, area, and perimeter could be demonstrated in lipedema patients as compared to controls, and these changes were accompanied by impaired MA fractional area change at rest. Following 1-hour use of compression stockings, no significant improvement was seen in these parameters. CONCLUSIONS: Lipedema is associated with MA enlargement and functional impairment. The use of compression stockings does not improve these alterations.

Three-dimensional speckle tracking echocardiography-derived left atrial deformation analysis in acromegaly (Results from the MAGYAR-Path Study).

INTRODUCTION: Acromegaly is a chronic and disfiguring hormonal disease caused by a benign growth hormone-secreting pituitary adenoma in most of the cases. The objective of this study was to investigate three-dimensional (3D) speckle tracking echocardiography (3DSTE)-derived left atrial (LA) volumetric and functional properties in patients with acromegaly. It was also examined whether the activity of acromegaly is associated with further alterations in these LA parameters. METHODS: A total of 23 patients with acromegaly were involved in this study. Due to inadequate image quality, 4 patients were excluded from the 3DSTE analysis. The mean age of the remaining acromegalic subjects was 58.5 ± 13.1 years (7 males). The control group consisted of 21 age- and gender-matched healthy subjects (mean age 51.8 ± 10.3 years, 10 males). RESULTS: Maximum (44.8 ± 12.7 mL vs 78.7 ± 25.4 mL, P < .05), minimum (24.1 ± 9.0 mL vs 44.5 ± 15.5 mL, P < .05), and preatrial contraction (35.5 ± 11.2 mL vs 66.0 ± 22.8 mL, P < .05) LA volumes were significantly different between all acromegaly patients compared with controls. Increased peak global and mean segmental radial and 3D strains and decreased LA circumferential strain (CS) could be detected in all acromegaly patients as compared to healthy subjects. Significant correlation could be detected between insulin-like growth factor 1 (IGF-1) index and peak superior LA-CS (r = .49, P = .05) in acromegaly. CONCLUSION: Acromegaly is associated with increased LA volumes and changes in LA functional properties.

Primary cardiac angiosarcoma: A case report.

Cardiac angiosarcomas are the most common primary malignant cardiac tumors in adults. The diagnosis is often delayed due to nonspecific clinical symptoms at presentation. The cornerstones of diagnosis are echocardiography and the histological evaluation of the cardiac biopsy. The knowledge on the treatment is limited; the outcomes of chemotherapy, radiotherapy, complete surgical removal, and heart transplantation are controversial. We report a 38-year-old woman with a primary heart tumor which infiltrated the right atrial wall and the pericardium and caused pericardial effusion. Angiosarcoma was verified histologically. The surgical excision could not be radical, and the patient died 3 months from diagnosis.

Change of left ventricular "rigid body rotation" during dipyridamole-induced vasodilation: A case from the three-dimensional speckle tracking echocardiographic MAGYAR-Stress Study.

A patient with previous coronary stenting presented with stable angina and positive exercise treadmill test. Echocardiography with three-dimensional speckle-tracking demonstrated left ventricular rigid body rotation (near absence of left ventricular twist), whose characteristics changed dramatically during dipyridamole-induced vasodilatation. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 46:152-156, 2018.

Cardiac amyloidosis is associated with increased aortic stiffness.

OBJECTIVE: Cardiac amyloidosis (CA) is as an infiltrative disorder primarily caused by extracellular tissue deposition of amyloid fibrils in the myocardial interstitium. The current study was designed to test whether alterations in ascending aortic elastic properties could be detected by echocardiography in CA patients, and to compare their results to controls. PATIENTS AND METHODS: We included 19 CA patients from which CA proved to be AL amyloidosis in 17 cases and transthyretin (TTR) amyloidosis in 2 cases. Their results were compared to 20 age-, gender-, and risk factor-matched controls. RESULTS: There was significantly greater interventricular septum and left ventricular (LV) posterior wall thickness, lower LV ejection fraction and greater E/A in CA patients than in controls, suggesting systolic, and diastolic dysfunction. CA patients also showed significantly reduced aortic strain and pulsatile change in aortic diameter, and increased aortic stiffness index. CONCLUSION: These results suggest increased aortic stiffness in CA patients.

Left ventricular twist is impaired in acromegaly: Insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Path Study.

INTRODUCTION: Acromegaly is a rare, chronic, disfiguring, and debilitating disease caused, in 90% of cases, by a benign monoclonal growth hormone-secreting pituitary adenoma. The present study aimed to assess left ventricular (LV) rotational and twist mechanics in acromegalic patients and to compare their results to age- and gender-matched healthy controls. METHODS: The present study comprised 24 acromegalic patients, from which 4 were excluded due to insufficient image quality (mean age: 57.8 ± 13.7 years, 7 men). The control group consisted of 18 age- and gender-matched healthy individuals (mean age: 54.8 ± 6.9 years, 8 men). RESULTS: In 4 out of 20 acromegalic patients, LV showed near absence of twist, as the so-called LV "rigid body rotation" (RBR). Between all acromegalic patients without LV-RBR and controls, both LV basal (-3.76 ± 1.73 vs. -6.17 ± 2.66°, P = .004) and apical rotation (6.12 ± 4.03 vs. 10.81 ± 3.65°, P = .001) and LV twist (9.88 ± 4.74 vs. 16.98 ± 3.88°, P < .001) differed significantly. Between active and nonactive acromegaly subgroups, only the time-to-peak LV twist (377 ± 78 vs. 229 ± 97 ms, P = .005) showed significant difference. CONCLUSIONS: Acromegaly is associated with impaired LV rotation and twist as assessed by 3-dimensional speckle tracking echocardiography. LV-RBR is a frequent phenomenon in acromegaly.

[Echocardiographic assessment of the left atrial appendage - transoesophageal, transthoracic and intracardiac approaches]. / A bal pitvari fülcse echokardiográfiás vizsgálata ­ transoesophagealis, transthoracalis és intracardialis lehetoségek.

Left atrial appendage is a cardiac chamber in variable shapes and sizes. Its condition is associated with atrial arrhytmias and the presence of a thrombus. Due to its difficult visualisation, the present review aimed to demonstrate the role of different echocardiographic methods in its assessment. Orv Hetil. 2018; 159(9): 335-345.

[Borderline left ventricular ejection fraction is associated with alterations in mitral annular size and function. Results from the three-dimensional speckle-tracking echocardiographic MAGYAR-Healthy Study]. / A határérték bal kamrai ejekciós frakció együtt jár a mitralis anulus méretének és funkciójának eltéréseivel. Eredmények a MAGYAR-Healthy Tanulmányból.

INTRODUCTION: Morphology and function of the mitral annulus (MA) shows alterations in different valvular (for instance in mitral regurgitation) and non-valvular disorders (for instance in certain cardiomyopathies, cardiac amyloidosis). AIM: The aim of the present study was to examine the relationship between MA morphologic and functional properties and three-dimensional speckle-tracking echocardiography- (3DSTE) derived left ventricular (LV) ejection fraction (EF) in subjects with normal versus borderline LV-EF. METHOD: The present study comprised 146 volunteers (mean age: 32.0 ± 11.4 years; 74 males) in whom complete two-dimensional Doppler echocardiography was performed with a negative result extended with 3DSTE. The population was further divided into two groups according to their 3DSTE-derived LV-EF (borderline 50-54% versus ≥55%). RESULTS: In cases with borderline LV-EF, higher LV end-systolic LV volumes and lower LV longitudinal strain could be measured. All end-systolic and end-diastolic MA diameter, area and perimeter data proved to be higher in cases with borderline LV-EF. In these subjects, MA functional parameters proved to be lower as well. In contrast, LV-EF showed correlations neither with end-systolic and end-diastolic MA dimensions nor with MA functional parameters. CONCLUSIONS: 3DSTE-derived borderline LV-EF is associated with MA dilatation and functional impairment. Orv Hetil. 2018; 159(50): 2129-2135.

[The significance of N-terminal pro-B natriuretic peptide in the management of adult patients with congenital heart disease - Results from the CSONGRAD Registry]. / Az N-terminális pro-B natriureticus peptid jelentosége a felnott korú congenitalis szívbetegek gondozásában ­ Eredmények a CSONGRAD Regiszterbol.

INTRODUCTION: The prognostic role of B-type natriuretic peptide (BNP) level was confirmed in chronic heart failure and congenital heart diseases irrespective of the aetiology. AIM: The aim of this study was to compare NT­proBNP measured in the clinical practice and important clinical and echocardiographic parameters in patients with adult congenital heart diseases under our care. METHOD: Data of a total of 70 patients were analysed; 34 patients had corrected tetralogy of Fallot and 19 patients had corrected transposition of the great arteries. In 17 further cases, patients with other congenital vitiums have been involved in the study. In all cases, out-patient examination was performed with electrocardiography, echocardiography and NT-proBNP measurement. The New York Heart Association (NYHA) stages of the patients were determined and the patients filled in a questionnaire regarding their quality of life. RESULTS: Elevated NT-proBNP level resulted in a worse quality of life (visual analogue scale, VAS) and an increased right ventricular end diastolic diameter; the incidence of arrhythmia increased as well. Negative correlation was found between the NT-proBNP level and the VAS value (r = -0.45, p = 0.0001) and the left ventricular ejection fraction (LV-EF) (r = -0.67, p = <0.0001). ROC analysis showed that NT­proBNP≥668.1 pg/ml was the cut-off value that most accurately predicted NYHA class III-IV (sensitivity 93%, specificity 63%, area under the curve 80%, p = 0.001). Similarly, NT-proBNP≥184.7 pg/ml was found to be the cut-off value most accurately predicting LV-EF below 55% (sensitivity 66%, specificity 67%, area under the curve 77%, p = 0.02). CONCLUSIONS: NT-proBNP has a role in the evaluation of adult patients with congenital heart diseases and in determining the prognosis of these patients, and in addition to other examinations used in the follow-up of these patients, NT-proBNP may help in determining the time of reoperation or potential heart transplantation. Orv Hetil. 2018; 159(4): 141-148.

[Prognostic significance of the total ischemic time in patients with ST-elevation myocardial infarction]. / A teljes ischaemiás ido prognosztikus jelentosége az ST-elevációval járó szívinfarktus miatt kezelt betegekben.

INTRODUCTION: The significance of the total ischemic time (from the beginning of the complaint to the opening of the vessel) is an important factor for myocardial salvage. AIM: The aim of the study was to determine the prognostic significance of the TIT in patients with ST elevation myocardial infarction in Hungary. METHOD: From 1 January 2014 all patients with myocardial infarction were recorded by law in an on-line database of the Hungarian Myocardial Infarction Registry. Between 1 January 2014 and 31 March 2016, 27 157 patients with 28 408 myocardial infarction events were recorded. To investigate TIT, 7146 STEMI patients were selected who were treated with percutaneous coronary intervention (PCI) within 24 hours of the beginning of the complaint and all of its components were known. RESULTS: Average follow-up was 740 ± 346 days. The median time of the TIT is 260 minutes, within which the earliest prehospital time was found (median 205 minutes). The TIT influenced survival: if this time was less than 400 minutes, the 30-day and the 1-year deaths were 7.5% and 12.2%, respectively. In longer TIT, higher mortality rate was found (9.2% versus 19.7%, respectively). Multivariate analysis was performed for short (<30 days), medium (30-364 days) and long-term (≥365 days) survival. Diabetes mellitus is a short-term prognostic factor, abnormal creatinine, and severe coronary status have affected short and medium survival. PCI was significant in terms of medium and long-term survival. Previous myocardial infarction and TIT influenced the long-term survival significantly. CONCLUSIONS: In Hungary, TIT is too long, and its dominant part falls within the prehospital period. The TIT is an independent prognostic factor, so reducing this time can improve the long-term prognosis of patients with ST-elevation myocardial infarction. Orv Hetil. 2018; 159(27): 1113-1120.

Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.

Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm. On the first day of life bradycardia due to 2:1 atrioventricular (AV) block and marked QTc prolongation of 600 ms was noted. On medical therapy with propranolol and mexiletine 1:1 AV conduction returned with QTc prolongation of 470-580 ms. The patient lacked other extracardiac manifestations, most importantly syndactyly, neurological complications or autism. On genetic analysis, the canonical TS1 causing mutation, p.Gly406Arg in exon 8A of the CACNA1C gene was detected. The CACNA1C p.Gly406Arg variant was not present in the parents, but was detected in different DNA samples of the index patient. Our case highlight further phenotypic variability in TS. Most importantly, it underlines that the lack of syndactyly does not exclude the presence of a TS1 genotype. © 2017 Wiley Periodicals, Inc.

Cardiac Amyloidosis Associated with Enlargement and Functional Impairment of the Mitral Annulus: Insights from the Three-Dimensional Speckle Tracking Echocardiographic MAGYAR-Path Study.

BACKGROUND AND AIM OF THE STUDY: Cardiac amyloidosis (CA) is a rare condition characterized by the extracellular deposition of amyloidogenic proteins in the heart. The aim of the present study was to compare the size and function of the mitral annulus (MA) between CA patients and age- and gender-matched controls, using three-dimensional speckle-tracking echocardiography (3-D STE). METHODS: The study included 17 patients (mean age 64.2 ± 9.8 years) with CA, whose results were compared to 26 age- and gender-matched healthy controls (mean age 59.0 ± 8.2 years). Complete two-dimensional (2-D) Doppler echocardiography and 3-D STE were performed in all cases. RESULTS: Significantly enlarged end-diastolic and end-systolic MA diameters (3.09 ± 0.56 cm versus 2.70 ± 0.37 cm, p = 0.01 and 2.71 ± 0.68 cm versus 1.87 ± 0.31 cm, p <0.001) and MA area (11.22 ± 3.56 cm2 versus 8.60 ± 1.92 cm2, p = 0.004 and 8.57 ± 3.35 cm2 versus 4.55 ± 1.05 cm2, p <0.001) were demonstrated in CA. MA fractional area change (24.10 ± 13.97% versus 46.06 ± 14.37%, p <0.001) and MA fractional shortening (12.92 ± 9.55% versus 30.98 ± 11.65%, p <0.001) were also impaired in CA patients as compared to matched controls. CONCLUSIONS: CA is associated with MA enlargement and functional impairment represented by MA fractional shortening and MA fractional area change, as assessed using 3-D STE.

Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.

Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p.Ile239Met, identified in a large Hungarian three-generation family with FD. A 69 year-old female index patient with a clinical history of renal failure, hypertrophic cardiomyopathy, and 2nd degree AV block was screened for mutation in the GLA gene. Genetic screening identified a previously unreported heterozygous mutation in exon 5 of the GLA gene (c.717A>G; p.Ile239Met). Family screening indicated that altogether 6 family members carried the mutation (5 females, 1 male, average age: 55 ± 16 years). Three family members, including the index patient, manifested the cardiac phenotype of hypertrophic cardiomyopathy, while two other family members were diagnosed with left ventricular hypertrophy. Taking affection status as the presence of hypertrophic cardiomyopathy, left ventricular hypertrophy or elevated lyso-Gb3 levels, all affected family members carried the mutation. Linkage analysis of the family gave a two-point LOD score of 2.01 between the affection status and the p.Ile239Met GLA mutation. Lyso-Gb3 levels were elevated in all carrier family members (range: 2.4-13.8 ng/mL; upper limit of normal +2STD: ≤ 1.8 ng/mL). The GLA enzyme level was markedly reduced in the affected male family member (< 0.2 µmol/L/hour; upper limit of normal ± 2STD: ≥ 2.6 µmol/L/hour). We conclude that the p. Ile239Met GLA mutation is a pathogenic mutation for FD associated with predominant cardiac phenotype.

[Cardiomyopathy and ion channel diseases registry: the Szeged CardioGen Registry]. / Cardiomyopathiás és ioncsatorna-betegek regisztere: a Szegedi CardioGen Regiszter.

The Szeged cardiomyopathy and ion channel diseases registry aims to establish a representative disease-specific registry based on the recruitment of patients with different cardiomyopathies and ion channel diseases followed at the Cardiology Center, University of Szeged. The registry collects patient data on the main forms of primary cardiomyopathies (hypertrophic, dilated, restrictive, arrhythmogenic right ventricular, left ventricular non-compact, tako-tsubo cardiomyopathy) and ion channel diseases (long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia). Patients with hypertrophic cardiomyopathy (388 patients) make up the largest group of patients in the registry. Patients with dilated cardiomyopathy (310 patients) and patients with the long QT syndrome (111 patients) form two other sizable groups. Analyzed data of the group of patients with hypertrophic cardiomyopathy indicate similar figures with regard to disease related mortality and morbidity and clinical parameters. Orv. Hetil., 2017, 158(3), 101-105.

[Changes in the 2015 guideline of pulmonary hypertension]. / Változások a pulmonalis hypertonia 2015. évi irányelvében.

The new 2015 ESC/ERS Guideline refined the diagnostic criteria of pulmonary hypertension. A new diagnostic algorithm is suggested. The therapeutic algorithm is renewed on the basis of newly registered drugs. Besides the usual sequential combination, the immediate (initial) combination is proposed as an alternative way. Pulmonary hypertension should be treated in expert referral centers. Orv. Hetil., 2016, 157(38), 1522-1525.