A 32-year-old woman, who presented with four spontaneous abortions, was found to have a balanced translocation: 46,XX,t( 13: 18)(q34:qll). In the last pregnancy an amniocentesis was done. Abnormal constitution of the fetus had been detected: 47,XY,t(13: 18)(q34:qll) + 18, and an abortion was induced. Examination of the fetal tissue confirmed the finding. The fetus showed the characteristics of Edward's syndrome. Through the patient's pedigree it was discovered that balanced translocation appeared in three generations.

Background Malignant ventricular arrhythmias in STEMI patients carry ominous prognosis including sudden cardiac death (SCD). According to the current guidelines only EF<35%, 40 days after STEMI, is indication for ICD implantation. Recently, index of myocardial dispersion (IMD) estimated by myocardial deformation imaging (speckle tracking echocardiography) was documented to provide better risk stratification. Aim To define whether quantification of myocardial mechanics early after pPCI using modern echocardiography offers information more to predict malignant arrhythmias during the first year after STEMI. Methods In the 226 consecutive STEMI patients (pts) 57.8±10.4yr, 71.7% males, in PREDICT-VT study (NCT03263949) treated with pPCI early echo (5±2 days) was done including conventional parameters and comprehensive speckle tracking LV deformation analysis with longitudinal (L), circumferential (C) strain (S;%) and strain rate (SR, 1/sec) and rotational LV mechanics. ROC analysis was performed to identify the best parameters to predict composite end-point defined as secondary VF, sustained/non-sustained VT and SCD, 48h after pPCI and during the first year of follow up. Results Twenty two patients (9.7%) reached the end-point. Classical parameters of LV systolic function, including LVEF, wall motion score index; global, systolic LS, CS and parameters of diastolic dysfunction were not significant predictors of the malignant arrhythmias. Early L SR, systolic C SR, IMD of global rotation and late rotation rate predicted the primary end-point (table). Parameter ROC area 95% CI p Cutt-off Sens Spec Longirudinal mechanics   SR E (1/sec) 0.687 0.577–0.796 0.019 0.69 64 65   IMD S (ms) 0.752 0.666–0.838 0.002 66.1 71 72 Circumferencial mechanics   SR S (1/sec) 0.732 0.613–0.852 0.002 −1.22 71 67 Rotational mechanics   Global IMD (ms) 0.329 0.177–0.481 0.036 82.9 63 62   Late rotation rate IMD (ms) 0.318 0.196–0.442 0.026 41.1 65 64 Conclusion Myocardial deformation imaging offers deeper insight into complex mechanical abnormalities during LV contraction and relaxation in longitudinal, circumferential and rotational directions (impaired and asynchronous deformations) in STEMI patients and predicts serious arrhythmic events.

Background Predicting malignant ventricular and sudden cardiac death (SCD) in STEMI patients with middle-range and preserved EF is challenge. Aim To identify the best parameters to predict composite end-point defined as secondary VF, sustained/non-sustained VT and sudden death, 48h after and during the first year of follow up after STEMI in patients with middle-range and preserved EF. Methods In the 192 consecutive STEMI patients (pts) 57.8±10.4yr, 69.9% males, in PREDICT-VT study (NCT03263949) treated with pPCI, with EF ≥40%, early echo (5±2 days) was done including conventional parameters and comprehensive speckle tracking left ventricle (LV) deformation analysis with longitudinal (L), circumferential (C) strain (S; %) strain rate (SR, 1/sec), index mechanical dispersion (IMD) and rotational LV mechanics. Results Thirteen patients (8.3%) reached the end-point. Classical parameters of LV systolic function, including LVEF, wall motion score index and parameters of diastolic dysfunction were not significant predictors of the malignant arrhythmias. IMD of late rotation rate (63.7 vs. 40.7ms, p=0.055) and late diastolic untwisting rate (−48.85 vs. −63.18°/s, p=0.059) had trend to become the significant predictors. CS in papillary muscle level in endo and mid layers predicted the primary end-point (endo: −20.5±11.8 vs. −24.9±4.6, mid: −14.6±3.9 vs. −17.0±2.1, epi: −10.1±3.3 vs. −11.8±1.8) (table). Parameter of circumferencial mechanics ROC area 95% CI p Cutt-off Sens Spec PM endo (%) 0.302 0.146–0.458 0.038 −22.75 70 67 PM mid (%) 0268 0.153–0.383 0.015 −15.65 80 62 Conclusion Myocardial deformation imaging offers deeper insight into complex mechanical abnormalities during LV contraction and relaxation in STEMI patients with middle-range and preserved EF that predicts serious arrhythmic events.

Assessment of cardiac function is the leading parameter when evaluating the state of the cardiovascular system of patients undergoing chronic hemodialysis. The aim of the paper: to assess the state of the cardiovascular system of these patients using new sensitive echocardiography and Doppler techniques and thus advance the prevention of cardiovascular disease.Method: Twenty children with end-stage renal insufficiency on chronic hemodialysis and twenty healthy controls underwent echocardiographic monitoring using standard Doppler and tissue Doppler imaging. Structural and functional changes in the left ventricle were evaluated.Results: Patients on hemodialysis had significantly greater left ventricular mass indices compared to the controls (p&lt;0.001). The patients on hemodialysis had preserved systolic function &ndash; their fractional shortening, ejection fraction and Sm (systolic myocardial velocity) did not differ significantly compared to the controls (p&gt;0.05). Early diastolic function in children on hemodialysis was also preserved: the E/A and Em/Am ratio did not differ significantly from the control group (p&gt;0.05). Children on hemodialysis exhibited impaired late diastolic function (compliance index), that is, considerably higher E/Em compared to controls (p&lt;0.00). Myocardial Performance Index values showed statistically significant elevation in children on hemodialysis compared to the control group (p&lt;0.001).Conclusion: Tissue Doppler in tandem with conventional Pulsed Doppler can provide additional information on left ventricular filling pressures (E/Em) in children on hemodialysis. It is therefore recommended to perform routine measuring of Em waves and the E/Em ratio, not only in order to evaluate myocardial relaxation and ventricular filling pressures, but primarily to stratify risk and provide a prognosis.

Assessment of cardiac function is the leading parameter when evaluating the state of the cardiovascular system of patients undergoing chronic hemodialysis. The aim of the paper: to assess the state of the cardiovascular system of these patients using new sensitive echocardiography and Doppler techniques and thus advance the prevention of cardiovascular disease. Method: Twenty children with end-stage renal insufficiency on chronic hemodialysis and twenty healthy controls underwent echocardiographic monitoring using standard Doppler &nbsp;and tissue Doppler imaging. Structural and functional changes in the left ventricle were evaluated. Results: Patients on hemodialysis had significantly greater left ventricular mass indices compared to the controls (p &lt; 0.001). The patients on hemodialysis had preserved systolic function&mdash;their fractional shortening, ejection fraction and Sm (systolic myocardial velocity) did not differ significantly compared to the controls (p &gt; 0.05). Early diastolic function in children on hemodialysis was also preserved: the E/A and Em/Am ratio did not differ significantly from the control group (p &gt; 0.05). Children on hemodialysis exhibited impaired late diastolic function (compliance index), that is, considerably higher E/Em compared to controls (p &lt; 0.00). Myocardial Performance Index values showed statistically significant elevation in children on hemodialysis compared to the control group (p &lt; 0.001). Conclusion: Tissue Doppler in tandem with conventional Pulsed Doppler can provide additional information on left ventricular filling pressures (E/Em) in children on hemodialysis. It is therefore recommended to perform routine measuring of Em waves and the E/Em ratio, not only in order to evaluate myocardial relaxation and ventricular filling pressures, but primarily to stratify risk and provide a prognosis.