The Role of Left-Atrial Mechanics Assessed by Two-Dimensional Speckle-Tracking Echocardiography to Differentiate Hypertrophic Cardiomyopathy from Hypertensive Left-Ventricular Hypertrophy.

Hypertrophic cardiomyopathy (HCM) and arterial hypertension (HTN) are conditions with different pathophysiology, but both can result in left-ventricular hypertrophy (LVH). The role of left-atrial (LA) functional changes detected by two-dimensional speckle-tracking echocardiography (STE) in indicating LVH etiology is unknown. METHODS: We aimed to characterize LA mechanics using STE in LVH patients with HCM and HTN. LA 2D volumetric and STE parameters were analyzed in 86 LVH patients (43 HCM and 43 isolated HTN subjects) and 33 age- and sex-matched controls. RESULTS: The volumetric study showed that LA reservoir and conduit function were impaired in the HCM group compared to controls, while, in the HTN group, only LA conduit function was deteriorated. The HCM group had all three STE-derived LA functions impaired compared to controls. The HTN group, consistently with volumetric analysis, had solely LA conduit function reduced compared to controls. Ratios of LA booster-pump strain (S) and strain rate (SR) to interventricular septum (IVS) thickness were the most accurate parameters to discriminate between HCM and HTN. The subgroup harboring sarcomeric pathogenic (P)/likely pathogenic (LP) variants had reduced LA booster-pump S and SR compared with the genotype-negative subgroup. CONCLUSIONS: LA reservoir, conduit, and pump functions are decreased in HCM compared to HTN patients with similar LVH. We report the ratios between LA contraction S/SR and IVS thickness as novel parameters with high accuracy in discriminating LVH due to HCM. The presence of P/LP variants in sarcomeric or sarcomeric-associated genes could be associated with more severe LA dysfunction.

Left Atrial Strain for Predicting Atrial Fibrillation Onset in Hypertensive Patients.

INTRODUCTION: We aimed to find new predictive parameters for atrial fibrillation (AF) onset in hypertensive patients using two-dimensional (2D) conventional and speckle tracking echocardiography of the left atrium (LA). METHODS: One hundred and eight patients with essential hypertension (HTN) were prospectively enrolled, from which 67 patients had no other important comorbidities (HTN group), while 41 patients had a recent AF episode, but were in sinus rhythm at the moment of enrollment (HTN and AF group). LA diameters and maximal volume, LV mass, LV ejection fraction and diastolic function were assessed through 2D conventional echocardiography. Moreover, peak longitudinal and contractile strain of LA walls (PALS and PACS, respectively) were analyzed by speckle tracking technique. Patients were followed up for 1 year and recurrent 24-h rhythm monitoring was done, in order to identify atrial fibrillation. RESULTS: Age and time from diagnosis of HTN were higher in HTN and AF group than in HTN group (68.02 ± 19 years versus 57.2 ± 1.52 years, p = 0.001 and 62.2 ± 9.2 months versus 40.4 ± 6.4 months, p = 0.04). All LA diameters and LA maximal volume were significantly larger in HTN and AF group (for LA antero-posterior diameter p = 0.02, for all the rest p < 0.0001). LV ejection fraction was preserved in both groups, being significantly lower in HTN and AF patients (58.44 ± 0.79 versus 60.75 ± 0.57, p = 0.02). LV mass was higher in HTN and AF group and these patients had also a more severe diastolic dysfunction, (E/A ratio 1.8 ± 0.51 versus 0.9 ± 0.02, p = 0.04) and lower septal and lateral A' velocities (p < 0.0001 and p = 0.002). The peak LA longitudinal and contractile strain values were also significantly lower in HTN and AF group versus HTN group (for all p < 0.0001). Among the echocardiographic parameters, we identified PALS and PACS as predictors for AF, with a good discriminating capacity (AUC = 0.88 for PALS and AUC = 0.86 for PACS). CONCLUSIONS: Compared to patients with isolated hypertension, patients with hypertension and AF display several echocardiographic differences. Among them, LA strain parameters could be useful predictors of AF occurrence in hypertensive patients.

Exploring the Continuum of Hypertrophic Cardiomyopathy-From DNA to Clinical Expression.

The concepts underlying hypertrophic cardiomyopathy (HCM) pathogenesis have evolved greatly over the last 60 years since the pioneering work of the British pathologist Donald Teare, presenting the autopsy findings of "asymmetric hypertrophy of the heart in young adults". Advances in human genome analysis and cardiac imaging techniques have enriched our understanding of the complex architecture of the malady and shaped the way we perceive the illness continuum. Presently, HCM is acknowledged as "a disease of the sarcomere", where the relationship between genotype and phenotype is not straightforward but subject to various genetic and nongenetic influences. The focus of this review is to discuss key aspects related to molecular mechanisms and imaging aspects that have prompted genotype-phenotype correlations, which will hopefully empower patient-tailored health interventions.

Assessment of chromosomal aneuploidies in sperm of infertile males by using FISH technique.

Reproductive failure is one of the most important issues for the population at age of procreation and approximately 15% of the couples who try to conceive a baby encounter reproductive difficulties. In this study, we used multicolor fluorescent in situ hybridization (FISH) probes for chromosomes 13, 18, 21, X and Y to evaluate the aneuploidy incidence in sperm cells. The study group included 35 males with infertility and oligoasthenoteratozoospermia (OAT) and 20 males with normal fertility and normal semen characteristics for which the conventional cytogenetic investigation using peripheral blood revealed a normal karyotype. The overall chromosome disomy and nulisomy in OAT group was higher than the one identified in the control group. By comparing the incidence of the disomy in the OAT group, the highest incidence was the sex chromosome disomy, followed by the disomy of chromosomes 13, 21 (equal values) and then 18. The nulisomy incidence in the OAT group was higher for sex chromosomes, followed by the nulisomy of autosomes 13, then 21 and 18. As in these days, for patients with OAT, intra-cytoplasmic sperm injection (ICSI) is frequently used, it is important to inform the patients if they might have an increased risk of aneuploidies in embryos.

Prognostic Value of Right Ventricular Function Assessed by Echocardiography in Patients Presenting With a First Acute ST Elevation Myocardial Infarction Treated By Primary PCI.

Aims: Informations regarding the prognostic value of right ventricular function changes in the setting of a first acute ST elevation myocardial infarction irrespective of the site of the necrosis and of the left ventricular systolic function are scarce. Purpose of the study was to assess the relation between parameters reflecting global and systolic right ventricular function assessed by conventional, speckle tracking and three-dimensional echocardiography and in hospital major cardiac events (MACE). Materials and Methods: We have prospectively analyzed a cohort of 44 consecutive patients (mean age 62,71 years, 70.5 % males) presenting with a first STEMI (2,3 % Topol 1, 38 ,6 % Topol 2, 20,6 % Topol 3, 31,8 % Topol 4, 6,8 % Topol5) treated by primary angioplasty. Patients with previous history of cardiac or pulmonary diseases were excluded. All patients underwent during hospitalization conventional 2D echocardiography and special techniques ( 2D speckle tracking echocardiography and also 3D echocardiography) RV global function was quantified by RV myocardial performance index (RV MPI) determined by PW Doppler ,whereas RV systolic function was studied using regional parameters like TAPSE , pulsed Doppler S wave and RV free wall 2D strain and global parameters like RV fractional area change (RV FAC) or RV ejection fraction ( RVEF) determined by 3D echocardiography . LV systolic function was described by LV ejection fraction (LVEF). The combined endpoint of major adverse cardiovascular events (MACE) was defined by all cause mortality, reinfarction, need for revascularization and occurrence of heart failure during hospitalization. The association between MACE and RV functional parameters was assessed by bivariate correlation analysis followed by binary logistic regression. Results: Initially, regardless of the site of necrosis, the only RV functional parameter correlated with MACE was RV MPI (OR 9.17; 95% CI: 1.03 -83.7). After adjustment for LVEF all RV functional parameters were correlated with MACE: TAPSE (OR: 1.83; 95% CI : 0.41- 8.23), RV MPI (OR: 8.07; 95% CI : 0.9- 72.07), RVFAC (OR: 1.22; 95% CI : 0.25- 5.98) , RV free wall strain (OR : 1.04; 95% CI : 0.21- 5.08) , S wave (OR: 2.46 ; 95% CI : 0.14- 42.82), RVEF (OR: 0.83 ; 95% CI : 0.20- 3.43). Conclusions: Our study reveals that RV functional parameters are predictive for in hospital MACE beyond LV systolic function and regardless of the culprit coronary artery. Among these parameters, RV MPI seems to have the greatest predictive value for short term MACE in STEMI patients.

Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience.

The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found. The study group is formed by 528 prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for cytogenetic diagnosis. The appropriate genetic investigation was selected based on the indications for prenatal diagnosis. The cases with structural chromosomal anomalies and polymorphic variants were analyzed as regard to the maternal age, gestational age, referral indications and type of chromosomal anomaly found. A total number of 21 structural chromosomal anomalies and polymorphic variants were identified in the study group. Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long "p" arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed. To the best of our knowledge, this is the first Romanian study in which the diagnostic strategies and the management of the prenatal cases with structural rearrangements are presented. The data provided about the diagnosis strategy and the management of the prenatal cases with structural chromosomal anomalies represents a useful tool in genetic counseling of pregnancies diagnosed with rare structural chromosomal anomalies.

The heterogeneity of craniofacial morphology in Prader-Willi patients.

Prader-Willi syndrome is a complex genetic disorder with narrow spectrum of facial phenotypic signs, which make the clinical diagnosis difficult in some cases. There are several reports describing the craniofacial appearance of Prader-Willi patients, but there are only a few cephalometric studies for these patients. In this study were included 18 patients with Prader-Willi syndrome and a control group of 18 subjects of both sexes selected based on specific criteria. The cephalometric radiographs of the patients were taken using the standardized technique with centric teeth in occlusion and lips in relaxed position. Angular, horizontal and linear measurements were analyzed for the study group and for the control group. We established that in Prader-Willi patients, there is a decrease of the majority of parameters but the degree of this reduction varies widely between patients and clinically typical facies not always have smaller measurements which can be found in an unusual facies. Facial dysmorphism in Prader-Willi patients varies a group ranging from miss proportions that do not alter the facial architecture as regard of facial typology, skeletal class and pattern of development to a severe disturbance of those. There is a degree of clinical heterogeneity between subjects with Prader-Willi syndrome on clinical evaluation and cephalometric study confirms the heterogeneity for this patients. Because the identification of smaller dimensions for majority of parameters in children and adults, the possibility of developmental delay or growth retardation delay can be excluded. These findings are important for the orthodontist for optimum timing of orthodontic management of patients with Prader-Willi syndrome.

A new definition of contours in images applications in heat and mass transfer.

A new definition for the contours of objects used in experimental visualization is proposed and used for edge detection and image smoothing in infrared thermography. This work is a contribution to image analysis, in the search for outlines of the features and their structures, aimed at identifying the trends they represent. A good example is the discovery of structures in the flow of liquids.