Unveiling Cardiac Involvement in Juvenile Dermatomyositis Through Speckle-Tracking Echocardiography.

Early detection of cardiac involvement in Juvenile Dermatomyositis (JDM) is difficult due to the absence of clinical signs and symptoms, with systolic dysfunction often emerging in late stages and associated with a poor prognosis. This study aimed to employ two-dimensional speckle-tracking echocardiography (STE) for subclinical assessment of left ventricular (LV) systolic failure in JDM and explore potential associations between impaired LV systolic function (LV-GLS) and disease activity. A prospective study enrolled 20 healthy volunteers and 26 JDM patients (< 18 years old) without cardiac symptoms. Clinical data were collected from medical records, and echocardiograms were conducted by a pediatric cardiologist. Our study cohort demonstrated similar age to controls (13.5 ± .6 vs. 13.8 ± 4.7; p = 0.465). Median illness duration at echocardiography was 5 (1.5-17.5) years, and conventional echocardiography indicated normal LV ejection fraction (> 55%) in all participants. However, STE revealed lowered LV GLS in JDM patients (- 22.2 ± 4.1% vs. - 26.5 ± 5.3% p = 0.022). Pulse steroid users displayed lower GLS average values compared to non-users (ß = 4.99, 95% CI 1.34-8.64, p = 0.009). Negative correlations existed between LV-GLS and age at diagnosis (r = - 0.499; p = 0.011), diastolic parameters (E/E' ratio) and age at diagnosis (r = - 0.469; p = 0.018), as well as RV global strain and age at diagnosis (r = - 0.443; p = 0.024). Employing STE in JDM patients facilitated the identification of preclinical cardiac dysfunction. Given JDM patients' younger age, early myocardial damage detection through STE may impact treatment decisions and long-term cardiovascular prognosis.

Exploring cardiovascular implications of juvenile dermatomyositis: Insights from aortic stiffness analysis and 3D echocardiography.

OBJECTIVE: Our goal was to use three dimensional (3D) strain analysis to evaluate myocardial function and ascending aorta elasticity changes in juvenile dermatomyositis (JDM). METHODS: Between 2019 and 2021, 23 JDM patients and 20 healthy volunteers participated. Both groups underwent 2D and 3D strain analysis, assessing aortic stiffness using aortic distensibility, stiffness index, strain, and elastic modulus. RESULTS: JDM patients had a median age of 13.3 ± 5.2 years, while controls had a median age of 13.8 ± 4.76 years. 3D strain analysis revealed significantly lower global longitudinal (GLS) and circumferential strain (GCS) in JDM patients compared to controls. Specifically, 3D GLS was notably reduced in patients (-28.1% vs. -31%, p = .047) compared to controls, and 3D GCS was also lower in patients (-27.5% vs. -30.5%, p = .019) compared to controls. Aortic strain and elastic modulus were significantly lower in JDM patients, while aortic stiffness index and distensibility showed no significant differences. Correlation analyses within the JDM group revealed a negative correlation between 3D GLS and age at diagnosis (r = -.561, p = .04), as well as a positive correlation between 3D GLS and both aortic strain (r = .514, p = .0001) and elastic modulus (r = .320, p = .03) in JDM patients. CONCLUSION: Our study demonstrated a trend towards lower ejection fraction and strain in patients with JDM, along with increased aortic stiffness using 3D echocardiography. These findings suggest potential cardiovascular involvement in juvenile dermatomyositis, emphasizing the importance of comprehensive cardiac assessments in these patients.

Prenatal Diagnosis of Crossed Pulmonary Arteries with a Postnatal Diagnosis of CHARGE Syndrome.

Introduction: Crossed pulmonary arteries (CPA) is an abnormality in which the ostium of the left pulmonary artery is located rightward and the ostium of the right pulmonary artery is leftward. Case report: We diagnosed a fetus with CPA prenatally. In fetal echocardiography, left pulmonary artery was seen to pass beneath the ductus and directing toward the left side and pulmonary artery bifurcation could not be demonstrated at the same plane. Postnatal echocardiography reconfirmed the presence of CPA. Bilateral choanal atresia, genital hypoplasia, hearing loss with facial and external ear asymmetry and psychomotor delay of the newborn led to clinical diagnosis of CHARGE syndrome and was confirmed by gene analysis. Discussion/Conclusion: CPA may be one of the cardiac anomalies in CHARGE syndrome.

Prenatal Diagnosis of Ductus Arteriosus Anomalies: A Single-Center Study.

To evaluate the fetal ductus arteriosus anomalies diagnosed by fetal echocardiography. The perinatal outcomes and associated cardiac and genetic anomalies are also explored. The fetal echocardiography records of 2366 fetuses were evaluated retrospectively. Thirty-seven pregnancies prenatally diagnosed with ductus arteriosus anomalies and evaluated after delivery were enrolled in the study. Perinatal and obstetric outcomes were analyzed. The incidence of ductus arteriosus anomaly in our series was 1.5% (37/2366). The most frequent ductus arteriosus anomaly detected was right-sided ductus arteriosus followed by aneurysm, constriction and bilateral ductus arteriosus with an incidence of 51.3%, 27.1%, 18.9% and 2.7%, respectively. There were 19 fetuses with right-sided ductus arteriosus, of which 15 had tetralogy of Fallot. There were 2 chromosomal anomalies (22q11 microdeletion) in this group. Of the 7 fetuses with ductus arteriosus constriction, 3 (3/7, 42.9%) died in-utero. There were 2 (2/10, 20%) neonatal deaths due to hypoplastic left heart syndrome in the ductus arteriosus aneurysm group. Various types of ductus arteriosus anomalies can be diagnosed prenatally. Perinatal outcomes mostly dependent on the type of the ductus arteriosus anomaly and accompanying cardiac malformations.

One-Year Follow-Up Results of MIS-C Patients with Coronary Artery Involvement: A Multi-center Study.

Multisystem inflammatory syndrome (MIS-C) in children is a rare complication of SARS-CoV-2 infection. Knowing the course of the affected or unaffected coronary arteries in the patients under follow-up is important in terms of defining the long-term prognosis of the disease and determining the follow-up plan. This is a multicenter and retrospective study. The data were obtained from nine different centers. Between May 2020 and August 2022, 68 of 790 patients had coronary artery involvement. One-year echocardiographic data of 67 of 789 MIS-C patients with coronary artery involvement were analyzed. Existing pathologies of the coronary arteries were grouped as increased echogenicity, dilatation and aneurysm according to Z scores, and their changes over a 1-year period were determined. The data of all three groups are defined as frequency. SPSS Statistics version 22 was used to evaluate the data. In our study, aneurysm was observed in 16.4%, dilatation in 68.7% and increased echogenicity in 13.4% of the patients. All of the patients with involvement in the form of increased echogenicity recovered without sequelae by the end of the first month. No progression to aneurysm was observed in any of the patients with dilatation. No new-onset involvement was observed in patients with previously healthy coronary arteries during the convalescent period. In addition, from the sixth month follow-up period, there was no worsening in the amount of dilatation in any of the patients. At least 94% of the patients who completed the 12th month control period returned to normal.

Perinatal Outcomes of Fetuses with Prenatally Diagnosed Atrial Appendage Aneurysm.

To evaluate the characteristics and outcomes of fetuses with atrial appendage aneurysm (AAA) diagnosed by fetal echocardiography. The fetal echocardiography records of 1956 fetuses were evaluated retrospectively. Nine pregnancies who had been diagnosed with fetal AAA prenatally and evaluated after delivery were enrolled in the study. Perinatal and obstetric outcomes were analyzed. The incidence of fetal AAA in our series was 0.46%. Seven fetuses (77.8%) had right AAA, 1 fetus had left AAA (11.1%) and 1 fetus (11.1%) had bilateral AAA. The average gestational age at the first observation and/or diagnosis and gestational age at delivery was 22.3 ± 1.9 weeks and 34.7 ± 4.9 weeks, respectively. Incidences of associated cardiac anomaly, pericardial effusion, and nonimmune hydrops fetalis (NIHF) were 44.4%, 22.2%, and 11.1%, respectively. There was no chromosomal abnormality detected in 4 pregnancies where karyotype analysis was performed. There were 2 neonatal (22.2%) and 1 fetal (11.1%) deaths in our study group. Detailed cardiac and structural ultrasonographic examination should be performed in pregnancies with fetal AAA.

Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey.

OBJECTIVE: Congenital heart defects occur in approximately 50% of children with Down syndrome and they contribute considerably to morbidity and mortality. The aim of this study is to investigate the prevalence, classification, and survival of congenital heart defects in Down syndrome. MATERIALS AND METHODS: About 1731 Down syndrome patients who underwent echocardiography between 1986 and 2022 were evaluated. The median follow-up duration was 8.7 years (range 1-35.8 years). Congenital heart defect was grouped as cyanotic and acyanotic. RESULTS: Among the 1731 patients, 52.1% had congenital heart defects. Congenital heart defect was significantly more common in females than males. The most common cardiac defect was ventricular septal defect (35%), followed by atrial septal defect (31.8%), atrioventricular septal defect (23.4%), tetralogy of Fallot (5%), and patent ductus arteriosus (3.6%). In the follow-up, 43.2% of atrial septal defect, 17.8% of ventricular septal defect, and a total of 20% of congenital heart defects were closed spontaneously. About 34.4% of congenital heart defect was corrected by cardiac surgery/intervention. Five-year survival rate was 97.4% in patients without congenital heart defects, whereas it was 95.6% in mild congenital heart defects and 86.1% in moderate to severe congenital heart defects. There was no relationship between consanguinity, parental age, maternal disease, folic acid supplementation before/during pregnancy, gestational age, birth weight, and congenital heart defects. Neuromotor development was similar in patients with and without congenital heart defects. CONCLUSION: We demonstrated that almost half of the patients had congenital heart defects; ventricular septal defect was the most common congenital heart defect type. This study is valuable in terms of the largest single-center study describing the classification, prognostic factors, and survival of Down syndrome patients with congenital heart defect from Turkey.

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.

OBJECTIVE: Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging from sudden-onset infantile DCM to adult-onset cardiomyopathy, sometimes of the restrictive hypertrophic form with a poor prognosis. We aimed to evaluate severe cardiomyopathy in Alström syndrome in infancy and display susceptible specific mutations of the disease, which may be linked to severe DCM. Secondarily we reviewed published mutations in ALMS1 with cardiomyopathies in the literature. METHOD: We represent new mutagenic alleles related to severe cardiomyopathy and cardiac outcome in this patient cohort. We evaluated echocardiographic studies of nine Turkish patients diagnosed with Alström syndrome (between 2014 and 2020, at age two weeks to twenty years). Thus, we examined the cardiac manifestations of a single-centre prospective series of nine children with specific ALMS mutations and multisystem involvement. All patients underwent genetic and biochemical testing, electrocardiograms, and echocardiographic imaging to evaluate systolic strain with speckle tracking. RESULTS: Four of the patients died from cardiomyopathy. Three patients (including three of the four fatalities) with the same mutation (c.7911dupC [p.Asn2638Glnfs*24]) had cardiomyopathy with intra-familial variability in the severity of cardiomyopathy. Global longitudinal strain, a measure of systolic contractile function, was abnormal in all patients that can be measured. CONCLUSION: Cardiac function in ALMS patients with infantile cardiomyopathy appears to have different clinical spectrums depending on the mutagenic allele. The c.7911dupC (p. Asn2638Glnfs*24) mutation can be related to severe cardiomyopathy. Parents can be informed and consulted about the progression of severe cardiomyopathy in a child carrying this mutagenic allele.

Perinatal outcomes of pregnancies with prenatally diagnosed foetal congenital heart disease.

We aimed to assess the types of prenatally diagnosed congenital heart disease (CHD) and their association with structural and chromosomal abnormalities and to evaluate the perinatal outcomes according to the type of the heart defect. We retrospectively reviewed 377 pregnancies with prenatally diagnosed CHD. The main outcome measure was to evaluate the pregnancy outcomes of CHD according to the type of the heart defect and associated structural or chromosomal abnormalities. Of 377 foetuses with major structural CHD, 214 (56.8%) were isolated, 49 (13%) had additional cardiac anomalies, 58 (15.4%) had extracardiac malformations with normal karyotype and 56 (14.9%) had chromosomal abnormalities. The most common chromosomal abnormality was trisomy 21 (55.4%). Prenatal detection of CHD allows early workup to identify chromosomal abnormalities and detailed anatomic evaluation of extracardiac malformations. Prognostication of each heart defect at diagnosis and facilitating patients with isolated surgically correctable CHD for targeted postnatal care is essential.IMPACT STATEMENTWhat is already known on this subject? CHD is the most common structural anomaly and is strongly associated with chromosomal anomalies and genetic syndromes.What do the results of this study add? Survival of the prenatally diagnosed CHD depends on the type and severity of the condition and coexisting extracardiac structural or chromosomal abnormalities.What are the implications of these findings for clinical practice and/or further research? Prenatal detection of CHD allows early workup to identify chromosomal abnormalities, detailed anatomic evaluation of extracardiac malformations and time to refer the parents to tertiary cardiac care centres and prepare for planned delivery, as well as to establish an appropriate perinatal and postnatal therapeutic plan.

Systolic and Diastolic Cardiac Functions in Juvenile Spondyloarthropathies.

BACKGROUND/OBJECTIVE: Juvenile spondyloarthropathies (JSpAs) are a group of inflammatory diseases characterized by asymmetric peripheral arthritis (especially in lower extremities), axial skeleton involvement, and enthesitis. Although cardiovascular findings of inflammatory diseases such as juvenile systemic lupus erythematosus (SLE) and juvenile scleroderma (SD) are well documented, there are only a few studies assessing the cardiovascular consequences of JSpA in the literature. METHODS: Forty patients with JSpA and 20 healthy controls were included into this cross-sectional study. Cardiac functions of the participants were evaluated by conventional echocardiography and pulse-wave (PW) tissue Doppler. RESULTS: The patients with JSpA had higher mitral lateral S (p = 0.005) and E' wave (p < 0.001), tricuspid A' wave (p = 0.03), ejection fraction (p = 0.03) and shortening fraction (p = 0.01) than the control patients. In contrast, the patients with JSpA had lower left ventricle MPI (p = 0.01) and the ratio of tricuspid E'/A' waves (p = 0.05). Patients with enthesitis detected on magnetic resonance imaging had lower ejection fraction (p = 0.05), the ratio of E/A waves (p = 0.03) and had higher Mitral lateral A' wave (p = 0.01) than those without. There was a significant inverse correlation between the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and PW transmitral A velocity (r = -0.256, p = 0.03), the BASDAI score and tricuspid annular plane systolic excursion (r = -0.301, p = 0.04), the BASDAI score and the ratio of E/E' waves (r = -0.276, p = 0.02), and the Juvenile Spondyloarthritis Disease Activity Index and PW transmitral A velocity (r = -0.246, p = 0.04). CONCLUSIONS: In this study, we report the possible early signs of RV diastolic dysfunction and possible association between magnetic resonance imaging-confirmed enthesitis and lower LV systolic functions. Early identification of cardiac dysfunctions can help with prevention of long-term cardiovascular complications.

Clinical features and outcomes of 76 patients with COVID-19-related multi-system inflammatory syndrome in children.

OBJECTIVES: Multi-system inflammatory syndrome in children (MIS-C) is a less understood and a rare complication of coronavirus disease-2019 (COVID-19). Given the scarce data regarding this novel disease, we aimed to describe the clinical features and outcomes of our patients with MIS-C and to evaluate the associated factors for the pediatric intensive care unit (PICU) admission. METHODS: The MIS-C patients under 18 years old diagnosed and treated in three referral centers between July 2020 and March 2021 were included. Data of the patients were retrospectively obtained from their medical records. RESULTS: Overall, 76 subjects (24 females) with a mean age of 8.17 ± 4.42 years were enrolled. Twenty-seven (35.5%) patients were admitted to the PICUs. The two most common systemic involvement patterns were cardiac and gastrointestinal. There was only one lethal outcome in a patient with underlying acute lymphoblastic leukemia. Those with higher procalcitonin levels at admission were found to stay longer in the hospital (r = 0.254, p = 0.027). The risk of PICU admission increased with age (aOR: 1.277; 95% CI: 1.089-1.498; p = 0.003) and with decreased initial serum albumin levels (aOR: 0.105; 95% CI: 0.029-0.378; p = 0.001). CONCLUSION: Although there is a wide clinical variability among the patients with MIS-C, we suggest that those with older age and lower initial serum albumin levels merit close monitoring due to their higher risk for PICU admission. Key Points • Although there is a wide variability regarding the management process among clinicians, MIS-C is a rare, severe, less understood complication of COVID-19 that may cause rapid clinical deterioration in the patients. • Clinicians should be aware of this condition in children with persistent fever and a family history of COVID-19. • Older age and low serum albumin levels are the independent predictors for the pediatric intensive care unit admission among MIS-C patients.

Fetal left ventricular modified myocardial performance index and renal artery pulsatility index in pregnancies with isolated oligohydramnios before 37 weeks of gestation

Objective: The aim was to evaluate fetal left modified myocardial performance index (Mod-MPI) and renal artery Doppler parameters in fetuses with isolated oligohydramnios and a normal amount of amniotic fluid. Material and Methods: This was a prospective cohort study; 25 pregnancies with isolated oligohydramnios and 25 healthy, gestational age-matched controls, between 24+0 to 36+6 weeks of gestation, were recruited. Primary outcome was to compare left modified MPI and mean fetal renal artery pulsatility index (PI). The secondary outcome was to compare adverse perinatal outcomes between the groups. Results: Mean Mod-MPI was significantly higher (p=0.001) and isovolumetric relaxation time was longer (p=0.009) in the isolated oligohydramnios group. Mean renal artery PI values were not different between the groups. Birthweight (p=0.041) and gestational age at birth (p=0.001) were significantly lower, and incidences of delivery before 37 weeks (p=0.034) and Cesarean section due to non-reassuring fetal heart rate testing (p=0.021) were significantly higher in women with isolated oligohydramnios than the control group. We found no significant relationship between Mod-MPI and adverse perinatal outcomes. Conclusion: Fetuses with isolated oligohydramnios have increased left Mod-MPI, which may be due to mild cardiac diastolic dysfunction. Increased Mod-MPI is not associated with adverse perinatal outcomes and does not seem to help in the management of pregnancies before 37 weeks of gestation with isolated oligohydramnios.

Unexpected increase of aortic stiffness in juvenile Spondyloarthropathies.

Juvenile spondyloarthropathy is an umbrella term for a group of childhood rheumatic diseases that can cause chronic arthritis extending to the axial skeleton before the age of 16. Although ankylosing spondylitis has aortic involvement as one of its most important effects, this relationship has not been extensively studied in children with juvenile spondyloarthropathy. Here, a cross-sectional study of the elastic properties of the aorta of 43 patients with juvenile spondyloarthropathy and 19 healthy controls is reported. Aortic stiffness assessed by echocardiography was used to predict the presence of aortitis, supplemented by pulsed-wave tissue Doppler indices. The right ventricular fractional area change was found to be significantly lower in the patients with juvenile spondyloarthropathy than in the healthy controls; aortic strain and distensibility were also significantly lower, and aortic stiffness index ß was significantly higher; and the aortic root diameter change was significantly lower. According to HLA-B27 positivity, there was no difference in the stiffness parameters between the two groups. There was a significant correlation between juvenile Ankylosing Spondylitis Disease Activity Index and aortic diameter change, between juvenile Ankylosing Spondylitis Disease Activity Index and aortic stiffness. Thus, juvenile spondyloarthropathy is linked to high aortic stiffness parameters.

Is the burden of late hypertension and cardiovascular target organ damage in children and adolescents with coarctation of the aorta after early successful repair different to healthy controls?

OBJECTIVE: Cardiovascular morbidity is high in patients with coarctation of aorta even after successful repair. This study aimed to assess the frequency of late hypertension and the relationship between ambulatory hypertension and cardiovascular target organ damage in children and adolescents after early and successful repair of coarctation of the aorta. METHODS: Twenty-five children and adolescents (mean age 13.5 ± 3.43 years) with repaired coarctation of the aorta (median age at repair 4 months, arm-leg gradient <20 mmHg) and 16 healthy controls were included. Office and ambulatory blood pressure, pulse wave velocity, and left ventricular mass index were assessed. RESULTS: Both day- and night-time systolic blood pressure standard deviation score and left ventricular mass index were significantly higher in patients compared to controls (p ≤ 0.001 for all), whereas pulse wave velocity did not differ. The prevalence of masked hypertension, isolated nocturnal hypertension, and left ventricular hypertrophy were 40, 28, and 24%, respectively. Left ventricular mass index was higher in patients with sustained hypertension, masked hypertension, and normotension compared to controls (p < 0.05). In multivariate analysis, higher night-time systolic blood pressure standard deviation score was the only independent predictor of left ventricular mass index. CONCLUSION: The present study reveals a high prevalence of masked hypertension, isolated nocturnal hypertension, and left ventricular hypertrophy in children and adolescents with coarctation of the aorta even after early and successful repair. Ambulatory blood pressure monitoring should be considered to diagnose hypertension. All coarctation of aorta patients should be followed up lifelong and encouraged to establish a healthy lifestyle starting from childhood.

Assessment of fetal left ventricular modified myocardial performance index and its prognostic significance for adverse perinatal outcome in intrahepatic cholestasis of pregnancy.

Objective: To investigate the association between fetal left ventricular modified myocardial performance index (LMPI) and intrahepatic cholestasis of pregnancy (ICP) and to evaluate the value of LMPI in predicting adverse perinatal outcomes in ICP.Study design: In a cross-sectional case-control study, 40 women with ICP were compared with 40 gestational age-matched healthy controls. The isovolumetric contraction time (ICT), isovolumetric relaxation time (IRT), and ejection time (ET) were measured using the Doppler signals of the opening and closing of the mitral and aortic valves. LMPI was calculated as (ICT + IRT)/ET. An adverse perinatal outcome was defined with at least one of the following: non-reassuring fetal heart rate tracing, umbilical cord pH <7.20, the presence of meconium in amnion, and neonatal intensive care unit (NICU) admission.Results: Mean gestational age at delivery and mean birth weight were significantly lower and the incidences of cesarean section rate, non-reassuring fetal heart rate tracing, the presence of meconium in amnion, and NICU admission were significantly higher in the ICP group (p < .01). Mean LMPI, ICT, and IRT values were significantly higher in the ICP group (p < .01). The area under the receiver operating characteristic (ROC) curve for LMPI in prediction of adverse perinatal outcome was 0.740 (95% CI: 0.607-0.873, p = .001) and a cut-off LMPI of 0.41 conferred a sensitivity of 85% and a specificity of 61%.Conclusions: There is an impaired global ventricular function in ICP fetuses demonstrated by increased LMPI. High LMPI is associated with adverse perinatal outcome in ICP.

Modified myocardial performance index and its prognostic significance for adverse perinatal outcome in early and late onset fetal growth restriction.

Objective: To compare the fetal modified myocardial performance index (Mod-MPI) in appropriately grown, early (EO) and late onset (LO) fetal growth restricted (FGR) fetuses and to assess its prognostic significance for adverse perinatal outcome.Study design: In a prospective case-control study, Mod-MPI was performed in 22 and 51 fetuses with EO and LO-FGR fetuses, respectively. Mod-MPI values of FGR fetuses were compared against gestation-matched controls (34 for EO-, and 32 for LO-FGR, respectively). Correlation testing related with poor perinatal outcomes were performed.Results: Incidences of pathologic uterine artery Doppler rate, cesarean section rate, 5-min Apgar score < 7, neonatal intensive care unit (NICU) admission and perinatal mortality were significantly higher in the EO-FGR group (p < .001). There was a decrease in Mod-MPI with gestational age in the normal (Pearson's r = 0.401, p < .001), and growth-restricted fetuses (Pearson's r = 0.248, p = .034). Mean Mod-MPI values were significantly higher in both EO- and LO-FGR group than gestation-matched controls (p < .001). There was no significant correlation between Mod-MPI values and perinatal deaths (Pearson's r = 0.004, p = .987) and 5-min Apgar score < 7 (Pearson's r = 0.391, p = .088) in the EO-FGR fetuses. There was a significant negative correlation between Mod-MPI values and cerebroplacental ratio (CPR) values (Pearson's r = -0.288, p = .041); however no significant correlation between Mod-MPI values and 5-min Apgar score< 7, and fetal distress during labor (Pearson's r = 0.149, p = 0.297) in the LO-FGR fetuses was noted.Conclusion: EO and LO-FGR fetuses have significantly higher Mod-MPI values, demonstrating prenatal cardiac dysfunction. Evaluating Mod-MPI is not so effective in predicting poor perinatal outcome in both EO and LO-FGR fetuses.

A rare cause of sudden cardiac arrest: Catecholaminergic polymorphic ventricular tachycardia.

Catecholaminergic polymorphic ventricular tachycardia is a rhythm disorder that develops due to genetic reasons in the absence of structural cardiac abnormalities. Ventricular tachycardia, ventricular fibrillation, cardiac arrest, and death may occur. Two-year-old patient presented to the Emergency Department with sudden cardiac arrest. He had syncope attacks after playing with his brother and he was followed up by the pediatric neurology and cardiology clinics. Cardiopulmonary resuscitation was performed, and he was then transferred to the Intensive Care Unit because of hypotension; dobutamine and norepinephrine treatment was started. After treatment, ventricular tachycardia, ventricular fibrillation, and cardiac arrest developed. Dobutamine and noradrenaline was stopped immediately and amiodarone was started. A genetic test revealed heterozygote missense mutation (c.9110G>A(p.Gly3037Asp)) in exon 64 of the RYR2 gene, which is compatible with catecholaminergic polymorphic ventricular tachycardia. This mutation has been reported in the literature for the first time. This case is presented with the purpose of highlighting catecholaminergic polymorphic ventricular tachycardia.

Antenatal Diagnosis of Fetal Retinoid Syndrome at 20 Weeks of Gestation: A Case Report.

INTRODUCTION: Isotretinoin, a synthetic derivative of vitamin A, is one of the most potent human teratogens, and is mainly utilized for the treatment of severe recalcitrant nodular acne. Retinoic acid embryopathy is well defined in the literature. CASE REPORT: The mother was referred for a fetal posterior fossa abnormality, first detected at 20 weeks of gestation. The mother used isotretinoin until 18 weeks gestation. Ultrasound examination revealed hypertelorism, cerebellar hypoplasia, vermian agenesis, truncus arteriosus, anotia, thymic aplasia, corpus callosum hypoplasia. An intrauterine diagnosis of fetal retinoid syndrome was confirmed by fetopsy after termination of pregnancy. CONCLUSION: The typical findings of fetal retinoid syndrome can be visualized with ultrasound in early second trimester.

Aortic arch anomalies detected in foetal life by echocardiography.

Aortic arch anomalies refer to congenital malformations of position or branching pattern of the aortic arch. To-date, only a few small studies have documented prenatal detection of aortic arch anomalies. In this article, we share our experience in detecting aortic arch anomalies. Foetal echocardiograms, clinic and genetic histories of 33 patients who had been diagnosed with aortic arch anomaly from 2007 to 2015 were reviewed. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected. In a patient with isolated right aortic arch, 22q11 microdeletion had been revealed. Given this data, we strongly suggest foetal karyotype analysis when aortic arch anomalies are identified. Impact Statement What is already known on this subject: The data about the prenatal diagnosis of aortic arch anomalies are limited. What the results of this study add: In our study, 653 patients were examined by foetal echocardiography during the study period. Thirty three patients who had been diagnosed with aortic arch anomaly prenatally and confirmed after delivery were enrolled in the study. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected. Trisomy 18 was detected in the patient with bilateral ductus arteriosus and Di George syndrome (22q11 microdeletion) was determined in two patients with right aortic arch. While in the first patient, there were no other intracardiac anomalies; in the second patient with 22q11 microdeletion, Fallot tetralogy accompanied the right aortic arch. What the implications are of these findings for clinical practice and/or further research: This results showed that aortic arch anomalies can be associated with genetic anomalies even when they are found without other congenital heart disease. Given these data, we strongly suggest foetal karyotype analysis and genetic testing when aortic arch anomalies are identified.

Evaluation of pulmonary artery pressure in patients with juvenile systemic lupus erythematosus (jSLE).

Juvenile systemic lupus erythematosus (jSLE) is a chronic multisystemic autoimmune disease. Previous studies among adults have shown impaired right ventricular (RV) function in patients with SLE. Also, these patients may develop pulmonary artery hypertension (PAH), which is one of the most threatening complications of SLE. Nevertheless, studies on PAH among jSLE patients are still rare. The aim of this study was to assess the RV function in jSLE patients by Doppler echocardiography (Echo Doppler). We also estimated pulmonary artery systolic pressure (PASP) and mean pulmonary artery pressure (mPAP) in these patients. A total of 38 jSLE patients and 40 sex- and age-matched controls were retrospectively analyzed. All patients underwent combined M-mode, cross-sectional echo, and Doppler Echo examination. The RV function was significantly impaired in jSLE patients compared to controls. PASP and mPAP were normal in 37 out of 38 patients (97.37%), however, the mean values of PASP and mPAP were significantly higher in jSLE patients compared to controls (26.90 mmHg versus 21.71 mmHg and 12.63 mmHg versus 9.89 mmHg, respectively) [p < 0.05]. Only one patient (2.6 %) had elevated mPAP (60 mmHg). The right cardiac catheterization confirmed PAH in this patient. Although PAH was detected only in one patient, there was a marked increase of PAP in our jSLE patients. Overall, PASP and mPAP were significantly higher in jSLE patients compared to healthy controls. Prospective studies with ethnically diverse cohorts could give more insight on the relevance of PAP and PHT in patients with jSLE.