0363: Acute coronary syndrome complicated with left ventricular diastolic dysfunction: what is the contribution of brain natriuretic peptid?

BackgroundThe utility of Brain Natriuretic Peptide (BNP) for detecting leftventricular (LV) diastolic dysfunction in patients presenting an acute coronary syndrome without heart failure symptoms is unclear. In this study, we investigated the relation between BNP plasma levels and LV diastolic dysfunction in patients with postmyocardial infarction without systolic dysfunction.MethodsWe studied 81 patients (12 women, mean age 55±11.79) admitted in our center for myocardial infarction with or without ST segment elevation. Patients with heart failure symptoms or abnormal systolic function were excluded. LV diastolic function was assessed with conventional Doppler, by means of mitral inflow and with tissue Doppler echocardiography by means of mitral annulus. The ratio of early diastolic transmitral E wave velocities to tissue Doppler mitral annulus early diastolic E’ wave velocities (E/E’), was used to detect LV filling pressures. Patients were divided in three groups according to E/E’ ratios < 10 (group I), E/E’ ratios between 10 and 15 (group II) and E/E’ ratios >15 (group III).Abstract 0109 – Table: Patients’ baseline characteristicsPatients’baseline characteristicsBMS (n=30)DES (n=300)pSex, M/F30/030/01Age, y52,03±6,3550,2±8,450,34Body mass index*, kg/m225,79±2,5625,00±2,970,28Hypertension, %16,661,661Dyslipidemia, %33,3333,331Diabetes mellitus, %001Family history, %26,666,660,07Cigarette smoking, %73,33600,41Previous CAD, Stroke, PAOD, %001Indication of coronary angiographyAMI (STEMI/NSTEMI, %86,6676,660,5UA, %13,3316,661SCAD, %06,660,49Time interval between PCI and blood sampling, d39,16±7,6838,73±6,760,81Stent length, mm16,3±4,2417,56±5,710,33LVEF, %58,66±7,3061,13±6,180,16Drug therapies*Statin, %1001001ASA, %1001001Second anti-platelet drugClopidogrel, %46,6643,331Prasugrel, %53,33501Ticagrelor, %06,660,49β-blocker, %85,71 (n=28)60 (n=25)0,059ACE inhibitor, %0 (n=28)0 (n=26)1OAC, %001Blood tests*LDL cholesterol, g/L0,75±0,180,68±0,190,19HDL cholesterol, g/L0,39±0,100,43±0,110,19Triglyceride, g/L0,96±0,320,93±0,290,72Hemoblogin, g/dl14,34±0,9714,4±0,830,82Platelets, G/L242,93±55,90239,56±49,610,8Serum creatinine, μmol/L2,07±2,021,39±1,300,12Fasted glycaemia, g/L0,97±0,111,01±0,090,14HbA1c, %5,74±0,395,73±0,400,92Continuous variables are presented as sample mean and standard deviation. P-values reflect comparisons between patients with a BMS and patients with DES and are derived from Student’s t-tests for continuous variables whereas qualitative data were compared with Fisher’s exact test.The characteristics marked with an asterisk were collected on the same day that blood was sampled (one month after PCI)ResultsThe BNP blood levels were positively correlated significantly with E/E’ ratio (p < 0.02). Patients with elevated LV end diastolic pressure (LVEDP), defined as E/E’ >15 (n = 27) had highest BNP (302±68pg/ml) levels. E/E’ 10 to 15 group (n = 24) had a mean BNP level of 136.4±27pg/ml, and those with E/E’ < 10 (n = 29) had 82±20pg/ml. A BNP value of 107.8pg/ml had a sensitivity of 89%, a specificity of 61% for predicting E/E’ >15. The area under the ROC curve for BNP to detect any diastolic dysfunction was 0.757. A BNP value of 72.7pg/ml had a sensitivity of 82.2% and a specificity of 66.7% for detecting a diastolic dysfunction.ConclusionsA rapid assay for BNP can detect the presence of diastolic abnormalities on echocardiography. In patients with preserved systolic function post myocardial infarction, elevated BNP levels might help to reinforce the diagnosis of LV diastolic dysfunction

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

International audienceTransgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and feet. The disease is distributed worldwide and includes the Mediterranean population. The gene responsible for MDM, ARS (component B) mapped on chromosome 8qter, encodes for the SLURP-1 protein (Ly-6/uPAR related protein-1). A variety of mutations within the ARS gene have been shown to underlie MDM in different populations. Genetic heterogeneity of MDM is suspected. We have recently shown that three different homozygous mutations (82delT, C77R, C99Y) were responsible for MDM in 17 patients from Northern Tunisia belonging to eight unrelated consanguineous families. We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene

Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis

International audienceDystrophic epidermolysis bullosa (DEB) is a rare genodermatosis caused by mutations in the type VII collagen gene COL7A1. Clinical diagnosis of DEB should be confirmed by histopathological and electron microscopy analysis, which is not always accessible. We report here a genetic investigation of DEB consanguineous families in Tunisia. A total of 23 EB families were genotyped with 5 microsatellite markers overlapping the COL7A1 gene. Among these families, 19 presented with the dystrophic form of EB, 9 were diagnosed by histopathological examination, 2 had the simplex form, 1 had a junctional EB, and 1 was affected by an unclassified form of EB. The informativeness of the markers was studied and allowed us to select three markers for genetic testing of DEB in Tunisian families at risk. Haplotype analysis and homozygosity by descent suggest that all families classified clinically as having DEB and the patient who presented with an unclassified form of EB are likely linked to the COL7A1 gene, and showed evidence for exclusion for the simplex and junctional cases. For COL7A1 linked families, two main haplotypes were shared by eight families. For all the other cases, haplotypic heterogeneity was observed, thus suggesting a mutational heterogeneity among Tunisian DEB families. The genetic results matched with the ultrastructural analysis in all the DEB families and with the clinical examination in 94.7% of all studied DEB families. This study is to our knowledge the first genetic investigation of DEB in the Maghrebian population. We propose a selection of informative markers and show the importance of haplotype analysis as a relatively easy and cost and time effective method for carrier screening and prenatal diagnosis of DEB in consanguineous families at risk

Immunohistological study of involucrin expression in Darier's disease skin

International audienceDarier's disease (DD) is an autosomal dominant skin disorder characterized by acantholysis and abnormal keratinization. The gene responsible for DD, ATP2A2 encodes for the sarco/endoplasmic reticulum (ER) Ca2+-ATPase isoform 2 protein. Involucrin, considered as a marker of terminal epidermal differentiation, could be altered in some keratinization disorders including DD.An immunohistochemical staining using anti-involucrin antibody was carried out on 16 DD patients epidermis. Involucrin staining was compared with biopsies from cutaneous lesions of three healthy individuals and of patients with Hailey-Hailey disease (five cases) and Mal de Meleda (four cases). A semi-quantitative analysis was performed in order to evaluate involucrin immunostaining on the basis of intensity, extension and epidermal distribution. The involucrin expression was examined afterward with confocal laser scanning microscopy.In contrast to normal skin, all DD cases showed premature expression of involucrin in the lower epidermal layers in four cases with a strong labeling in both keratinocytes cell membrane and cytoplasm. Other keratinization disorders share premature expression of involucrin but displayed differences in cytoplasm/cell membrane labeling.DD skin displayed a constant immunohistochemical involucrin pattern characterized by both premature expression and a particular cytoplasmic/cell membrane localization distribution

Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports

Abstract Introduction Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the ARS (component B) gene (ARS, MIM: 606119) on chromosome 8q24.3 have been identified in families with this disorder. Congenital cataract is a visual disease that may interfere with sharp imaging of the retina. Mutations in the heat-shock transcription factor 4 gene (HSF4; MIM: 602438) may result in both autosomal dominant and autosomal recessive congenital cataracts. Case presentation A Tunisian family with two female siblings aged 45 and 30 years, presented with a clinical association of mal de Meleda and congenital cataract. The two patients exhibited diffuse palmoplantar keratodermas. One of them presented with a total posterior subcapsular cataract and had a best corrected visual acuity at 1/20 in the left eye and with the right eye was only able to count fingers at a distance of one foot. The other woman had a slight posterior subcapsular lenticular opacity and her best corrected visual acuity was 8/10 in the right eye and with her left eye she was only able to count fingers at a distance of one foot. A mutational analysis of their ARS gene revealed the presence of the homozygous missense mutation C99Y and two single nucleotide polymorphisms (-55G>C and -60G>C). The splice mutation (c.1327+4A-G) within intron 12 of the HSF4 gene, which has been previously described in Tunisian families with congenital cataract, was not found in the two probands within this family. Conclusion To the best of our knowledge, such original clinical association has not been reported previously. The association of these two autosomal recessive diseases might have occurred in this family due to a high degree of inbreeding. The C99Y mutation may be specific to the Tunisian population as it has been exclusively reported so far in only three Tunisian families with mal de Meleda.</p

Distal radial approach versus conventional radial approach: a comparative study of feasibility and safety

The distal radial approach (DRA) is suggested to have benefits over the conventional radial approach (CRA) in terms of local complications and comfort of both patient and operator. Therefore, we aimed to compare the feasibility and safety of DRA and CRA in a real life population. We conducted a prospective, observational multicentric trial, including all patients undergoing coronary procedures in September 2019. Patients with impalpable proximal or distal radial pulse were excluded. Thus, the choice of the approach is left to the operator discretion. The primary endpoints were cannulation failure and procedure failure. The secondary endpoints were time of puncture, local complications and radial occlusion assessed by Doppler performed one day after the procedure. We enrolled 177 patients divided into two groups: CRA (n = 95) and DRA (n = 82). Percutaneous intervention was achieved in 37% in CRA group and 34% in DRA group (p = 0.7). Cannulation time was not significantly different between the two sets (p = 0.16). Cannulation failure was significantly higher in DRA group (4.8% vs 2%, p < 0.0008). Successful catheterization was achieved in 98% for the CRA group and in 88% for the DRA group (p = 0.008). Radial artery occlusion, detected by ultrasonography, was found in 3 patients in the CRA group (3.1%) and nobody in the DRA group (p = 0.25). The median diameter of the radial artery diameter was higher in the DRA than the CRA group (2.2 mm vs 2.1 mm; p = 0.007). The distal radial approach is feasible and safe for coronary angiography and interventions, but needs a learning curve

Distal radial approach versus conventional radial approach: A comparative study of feasibility and safety

The distal radial approach (DRA) is suggested to have benefits over the conventional radial approach (CRA) in terms of local complications and comfort of both patient and operator. Therefore, we aimed to compare the feasibility and safety of DRA and CRA in a real life population. We conducted a prospective, observational multicentric trial, including all patients undergoing coronary procedures in September 2019. Patients with impalpable proximal or distal radial pulse were excluded. Thus, the choice of the approach is left to the operator discretion. The primary endpoints were cannulation failure and procedure fail- ure. The secondary endpoints were time of puncture, local complications and radial occlusion assessed by Doppler performed one day after the procedure. We enrolled 177 patients divided into two groups: CRA (n = 95) and DRA (n = 82). Percutaneous intervention was achieved in 37% in CRA group and 34% in DRA group (p = 0.7). Cannulation time was not significantly different between the two sets (p = 0.16). Cannulation failure was significantly higher in DRA group (4.8% vs 2%, p &lt; 0.0008). Successful catheterization was achieved in 98% for the CRA group and in 88% for the DRA group (p = 0.008). Radial artery occlusion, detected by ultrasonography, was found in 3 patients in the CRA group (3.1%) and nobody in the DRA group (p = 0.25). The median diameter of the radial artery diameter was higher in the DRA than the CRA group (2.2 mm vs 2.1 mm; p = 0.007). The distal radial approach is feasible and safe for coronary angiography and interventions, but needs a learning curve