An Exhaustive Echocardiographic Analysis of Left Ventricular Structure and Functions in Children with Duchenne Muscular Dystrophy

Objectives: We aim to characterize cardiac morphological and functional changes by echocardiography that are present in the early and late stages of Duchhenne type muscular dystrophy (DMD)

Echocardiographic findings in newborns of gestational diabetic mothers and its relationship with somatomedin-C

Background: Diabetes is an important disease that affects fetal development during pregnancy and causes metabolic disorders in newborns. Changes in serum glucose, ketone bodies, and somatomedin-C inhibitors in the diabetic pregnancies are responsible for the development of metabolic syndromes. The frequency of maternal hyperglycemia has reduced with careful monitoring during pregnancy of diabetic mothers. Nevertheless, morbidity in offspring of mothers with gestational diabetes mellitus (GDM) continues to be significant. We aimed to investigate the cardiac function of infants of mothers with GDM by echocardiographic (ECHO) Doppler and tissue Doppler methods and to evaluate their demographic features, somatomedin-C level and the relations them with each other

Our experience in the diagnosis and treatment of postural orthostatic tachycardia syndrome, vasovagal syncope, and inappropriate sinus tachycardia in children

Objectives: The aim of this study was to share our experience in the diagnosis and treatment of patients who presented at our clinic with syncope, pre-syncope, dizziness, and palpitations

Detection of Early Right Ventricular Dysfunction in Young Patients With Thalassemia Major Using Tissue Doppler Imaging

Background Myocardial iron overload is the most common cause of mortality in patients with thalassemia major (TM), also known as beta-thalassemia. T2* cardiovascular magnetic resonance imaging (MRI) is the best way of monitoring cardiac iron, and new echocardiographic techniques can be used to assess cardiac function. Objectives The aim of this study was to assess the systolic and diastolic right ventricular (RV) function of patients with TM using tissue Doppler imaging (TDI) and to determine whether this echocardiographic technique is an adequate diagnostic tool for the screening and detection of subclinical cardiac dysfunction. Patients and Methods Eighty-four patients with TM were evaluated by conventional echocardiography and pulse-wave TDI. The data of the TM group (Group 1) were compared with that of 85 age- and sex-matched healthy controls (Group 2). Cardiovascular T2* MRI examinations were performed in 49 of the 85 patients. Results The patients with TM had significantly lower values for weight, height, body mass index, systolic arterial pressure, deceleration time, E’/A’, and ejection time (ET) than the controls. Group 1 also had significantly higher values for peak early diastolic velocity (E) over peak late diastolic velocity (A), peak early diastolic velocity of TDI (E’), peak late diastolic velocity of TDI (A’), E/E’, isovolumetric relaxation time, isovolumetric contraction time, and RV magnetic perfusion imaging (MPI) than Group 2. Conclusions RV diastolic dysfunction occurs before systolic deterioration in patients with TM and cannot be screened with conventional echocardiographic techniques. In routine practice, TDI measurements, MPI (for global function) and the E/E’ parameter (for diastolic function) can be used to screen and detect early RV dysfunction

Antegrade transvenous balloon angioplasty for coarctation of the aorta in infants with ventricular septal defect

For a newborn, surgical correction has been the primary treatment of native coarctation at most centers; however, there has been an increased use of balloon angioplasty (BA). The anterograde transvenous (AT) technique is another alternative way for coarctation (AoC) angioplasty in low weight patients with large ventricular septal defect (VSD). Four, 5-day-old to 7-month-old, infants weighing 2500, 2700, 2800, and 3400 g, respectively presented to emergency unit (EU) with cyanosis, tachypnea, and loss of weight. Echocardiography demonstrated AoC and VSD. All four children were admitted to the EU with hemodynamic compromise and critically ill status. We used femoral vein for sheath and used VSD to enter left ventricle from right antegrade route, and performed BA without any complication. AT described in this report is another alternative way for coarctation angioplasty in patients with large VSD. We suggest that AT BA can be applied to small infants in situations where surgery might have been hazardous

Outcome of Aneurysmal Septum Primum with Non-restrictive Foramen Ovale in Fetuses with Structurally Normal Hearts: A Tertiary Center Experience

The aim of this analysis was to study the postnatal short-term outcome of cases with aneurysmal septum primum (ASP) and non-restrictive foramen ovale in otherwise structurally normal hearts. This is a retrospective review of fetuses with ASP referred between 2016 and 2018 to the University Hospital of Cerrahpasa, Department of Fetal Cardiology for cardiac scanning. Prenatal and postnatal clinical features and outcomes for each case were ascertained from the departmental database and from individual clinical hospital records. We presented twenty-four cases which also had postnatal echocardiographic examination in our hospital. At the time of diagnosis of ASP, the mean maternal age was 31.1 +/- 5.7 years, the mean gestational age was 28.9 +/- 5.9 weeks, the mean birth week was 37.4 +/- 3.1 weeks, and the mean birth weight was 2940.8 +/- 736.6 g. The postnatal first 3 months prevalences of atrial septal aneurysm, patent foramen ovale and, secundum atrial septal defect (ASD) were 12.5%, 12.5%, 20.8% among fetuses with ASP, respectively. ASP may persist after birth and may increase the frequency of secundum ASD. These data suggest that fetuses with ASP should be followed by a pediatric cardiologist in postnatal life

Additional file 1 of Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Additional file 1. Table S1. Detailed individual echocardiographic studies of nine Turkish patients diagnosed with ALMS

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 StatementWhat 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

New Insights into Cardiac Involvement in Juvenile Scleroderma: A Three-Dimensional Echocardiographic Assessment Unveils Subclinical Ventricle Dysfunction

Cardiac manifestations in juvenile scleroderma or systemic sclerosis (JSSc) have poor prognosis, begin in early stages of the disease, and remain clinically asymptomatic. New echocardiography modalities, such as 2D/3D speckle tracking (STE, strain analysis for regional and global ventricular functions), can detect cardiac involvement in early stages. We assessed 21 JSSc patients and 19 controls using 2D/3D STE. The left ventricular end diastolic volume, end systolic volume, and ejection fraction of the patient and control groups were significantly different (99.2 +/- 23.8 vs. 52 +/- 23.8, 40.6 +/- 16.0 vs. 20.2 +/- 17.4 and 59.2 +/- 7.5 vs. 65.6 +/- 5.2, respectively). Global longitudinal strain (GLS) and global circumferential strain (GCS) were lower in the patient group (18.4 +/- 4.7 vs. 22.4 +/- 3.7, 26.4 +/- 5.8 vs. 31.4 +/- 3.5), as were the peak systolic strain values of the right ventricular longitudinal strain (RVLS) septum and RVLS free wall (18.1 +/- 6.8 vs. 24.8 +/- 6.0 and 22.8 +/- 5.9 vs. 28.0 +/- 6.9, respectively). 3D measurements of RVEDV, RVESV, and RVSV were higher in the patient group (88.2 +/- 31.3 vs. 50.8 +/- 23.5, 43.1 +/- 17.6 vs. 19.0 +/- 12.2, and 45.0 +/- 16.2 vs. 31.7 +/- 12.6). RVLS freewall results were lower in the JSSc patients with interstitial lung fibrosis, arthritis, muscle weakness, weight loss, and anti-scl 70 antibodies than in the JSSc patients without these variables. We found that a GCS of < 34.5% could identify patients for left ventricular (LV) dysfunction with a sensitivity of 93.3, specificity of 92.9, while an RVEF of < 60.7% could identify patients for left ventricular (RV) dysfunction with a sensitivity of 92.9 and specificity of 21.4%. We highlighted key advantages of 3D STE for the tracking of early systolic dysfunction in patients with JSSc who would benefit from medical intervention for cardiac complications