Reyhan Dedeoglu

Regression of Cardiac Rhabdomyomas in a Neonate after Everolimus Treatment

Cardiac rhabdomyoma often shows spontaneous regression and usually requires only close follow-up. However, patients with symptomatic inoperable rhabdomyomas may be candidates for everolimus treatment. Our patient had multiple inoperable cardiac rhabdomyomas causing serious left ventricle outflow-tract obstruction that showed a dramatic reduction in the size after everolimus therapy, a mammalian target of rapamycin (mTOR) inhibitor. After discontinuation of therapy, an increase in the diameter of masses occurred and everolimus was restarted. After 6 months of treatment, rhabdomyomas decreased in size and therapy was stopped. In conclusion, everolimus could be a possible novel therapy for neonates with clinically significant rhabdomyomas.

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. STUDY DESIGN Patients who were treated at pediatric cardiology clinic for complaints of syncope, dizziness, and palpitations between 2014 and 2016 were enrolled in the study. Detailed history of the patients, physical examination findings, laboratory and electrocardiogram results were recorded. Tilt table test, 24-hour Holter rhythm monitoring, and exercise test were performed, as required. Patients were diagnosed as vasovagal syncope, postural orthostatic tachycardia syndrome (POTS), or inappropriate sinus tachycardia based on these findings. Treatment of the patients was evaluated. RESULTS Thirty patients were diagnosed as vasovagal syncope, 7 patients as POTS, and 2 as inappropriate sinus tachycardia. POTS accompanied Raynauds phenomenon in 1 patient, hypertrophic cardiomyopathy in 1 patient, and homocystinuria in another patient. Complaints of patients with vasovagal syncope improved with non-medical therapy. Medical treatment was administered to the patients with diagnosis of POTS and inappropriate sinus tachycardia. CONCLUSION In patients with complaints of syncope, pre-syncope, dizziness, and palpitations without structural heart disease or non-rhythm problems, cardiovascular autonomic disorders, such as POTS and inappropriate sinus tachycardia should be kept in mind, as well as vasovagal syncope.

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.

Erratum to: Evaluation of cardiac functions in juvenile systemic lupus erythematosus with two-dimensional speckle tracking echocardiography

The aim of this study was to investigate subclinical systolic and diastolic dysfunction in juvenile-onset systemic lupus erythematosus (j-SLE) patients with speckle tracking echocardiography (STE) and the effects of disease activity on left ventricular (LV) regional functions. Thirty-five patients with j-SLE and 30 healthy children (control group) were evaluated between January and August 2015. STE was performed on all patients and controls. Medical records, including diagnosis criteria, age at diagnosis, and duration of disease, were evaluated. SLE disease activity was assessed using the SLE Disease Activity Index (SLEDAI). j-SLE patients had lower ejection fraction than did control subjects but still within normal range. LV end-diastolic and end-systolic dimensions were significantly larger in j-SLE patients (32.43 ± 3.2 vs 28.3 ± 3.1 and 21.1 ± 1.9 vs 18.9.0 ± 2.2, respectively; p = 0.001). There was a significant reduction in longitudinal strain of LV segments in the j-SLE patients compared with controls. J-SLE patients were further divided into subgroups. Group 1 comprised patients having SLEDAI scores >8 at the onset of disease but who improved with therapy during follow-up. Group 2 included j-SLE patients with SLEDAI scores >8 at diagnosis and persistently >4 at the end of follow-up. In the LV mid-inferior and mid-inferolateral segments, STE strain measurements of group 2 were significantly lower than those of group 1 (15.9 ± 6.4 vs 20.0 ± 4.4, 17.9 ± 7.2 vs 23.2 ± 3.8; p = 0.075, p = 0.055, respectively). Simple and non-invasive STE would be helpful in predicting cardiovascular prognosis with new therapeutic medications/interventions or in objectively comparing the effects of immunosuppressive drugs in comparison with preceding STE evaluation.

Cooccurrence of Postural Orthostatic Tachycardia Syndrome with Two Different Clinical Entities

Postural orthostatic tachycardia syndrome (POTS) is an abnormal heart rate response to a positional change. Several potential mechanisms for pathophysiology of POTS are defined. This syndrome can coexist with different clinical situations. In our report, the first case was a 13-year-old female who has been followed up for diagnosis of homocystinuria. She was admitted to our outpatient clinic with complaints of dizziness after suddenly moving from supine to upright position and chest pain after exercise. Tilt table test was performed to evaluate dizziness. According to the tilt table test the patient was diagnosed with POTS. The second case was a 17-year-old female who had been evaluated in different centers with the complaints of fainting, bruising, redness, and swelling on the hands and feet after moving from supine position to upright position during the last 4 years. Postural orthostatic tachycardia syndrome was diagnosed by tilt table test and ivabradine was started. Herein, we aimed to point out the cooccurrence of different clinical entities and POTS.

Aortic arch anomalies detected in foetal life by echocardiography

Abstract 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.

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.

SAT0254 The Iceberg in Juvenile Onset Systemic Lupus Erythematosus: Subclinical Deterioration of Cardiac Functions Assessed with Two-Dimensional Speckle Tracking Echocardiography and Contributing Factors of Systolic Dysfunction

Background Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by vasculitis and inflammation in various organs. Cardiovascular involvement, although not frequent in juvenile-onset SLE (j-SLE), if present, is a significant cause of morbidity and mortality (1). Particularly, involvement of the myocardium layer may lead to ventricular dysfunction since its progression is insidious (1,2). Speckle tracking echocardiography (STE) could demonstrate subclinical myocardial deformations (strain) that globally seems normal in conventional echocardiography (2). Objectives The aim of this study is early detection of subclinical systolic dysfunctions in j-SLE with STE and if present, then to investigate whether this is disease-related or it is a result of other predisposing conditions. Methods 35 patients with j-SLE and 30 healthy children as a control group were evaluated between January and August 2015 at outpatient clinics of Cerrahpasa Medical Faculty. STE was performed on all patients and controls. Medical records that are including age at diagnosis, duration of the disease, diagnostic criteria, laboratory tests and cumulative clinical manifestations were evaluated. SLE disease activity was assessed using the SLE Disease Activity Index (SLEDAI). A SLEDAI score >4 was arbitrarily designated as a sign of moderate/severe disease activity. Results j-SLE patients had lower EF values than control subjects. Left ventricular end diastolic dimension (LVEDD) and left ventricular end systolic dimension (LVESD) were significantly greater in j-SLE patients (42,278±4,530 vs. 37,314±5,535; 28,108±3,344 vs. 24,055±3,290 p=0.001, respectively) than in the control group. There was a significant reduction in systolic parameters of longitudinal strain in the j-SLE group (p<0.05) at all segments compared to control patients. SLE patients were divided into two subgroups. Group 1 included patients having SLEDAI scores >8 at the beginning of the disease but who improved with therapy during follow up, with resulting SLEDAI scores less than or equal to 4 points. Group 2 included j-SLE patients with SLEDAI scores >8 at diagnosis but with SLEDAI scores still greater than 4 at the end of follow up. In comparisons of two groups, mid inferior and mid inferolateral LV segment STE strain measurements of Group 2 were significantly lower than those in Group 1, (15.9000±6.47130 vs. 20.0714±4.49725 mid inferior; 17.9000±7.23341 vs. 23.2308±3.87629 mid inferolateral, p=0.075, 0.055, respectively). Conclusions We can say that prevention of long-term cardiovascular complications in j-SLE begins with noticing the iceberg early, before irreversible changes take place. In this regard, STE is an accurate method for detecting subclinical systolic dysfunction. References Apte M, McGwin G Jr, Vilá LM, Kaslow RA, Alarcόn GS, Reveille JD. Associated factors and impact of myocarditis in patients with SLE from LUMINA, a multiethnic US cohort. Rheumatology (Oxford) 2008;47: 362–367. Huang BT, Yao HM, Huang H. Left ventricular remodeling and dysfunction in systemic lupus erythematosus: A three-dimensional speckle tracking study. Echocardiography 2014; 31: 1085–1094. Disclosure of Interest None declared

SAT0258 Assessing Myocardial Deformation of Kawasaki Patients with Speckle-Tracking Echocardiography on Long Term Follow Up

Background Myocardial dysfunction due to coronary arterial lesions is an important complication after Kawasaki disease in childhood (1,2). Speckle-tracking echocardiography (STE) is a recently developed technique for evaluation of myocardial deformation (3). Objectives Our objective was to examine myocardial deformation at long term follow-up of Kawasaki patients. Methods We assessed regional myocardial function in 32 asymptomatic Kawasaki patients and 30 age matched healthy child as control group. STE examination were recorded and the acquired raw data were saved for offline analysis The inferoseptal, anterolateral, inferior, anterior, and inferolateral (posterior) walls were investigated for longitudinal systolic peak values for strain (LV-SR) imaging. Results Mean age was 21±12 months, mean follow up time 61 months, Left ventricular ejection fraction was 57,373±8,338 in patients and 61,100±3,804 in control group. LV-SR of Kawasaki patients at basal-inferoseptal (20,000±6,046 vs 25,200±5,074), basal-anterolateral (19,595±5,713 vs 22,733±3,494), apical-septal (23,378±5,609 vs 26,267±4,334), apical-inferior (24,054±3,696 vs 25,200±2,396) segments had lower values than control group. Conclusions We demonstrated subclinical systolic impairment of function especially at left ascending artery territories with STE. STE has the potential to detect these subtle abnormalities, and help management during long term follow up. References Printz BF, et al. Noncoronary cardiac abnormalities are associated with coronary artery dilation and with laboratory inflammatory markers in acute Kawasaki disease. Journal of the American College of Cardiology 2011;57(1): 86–92. Xu QQ, et al. Evaluation of left ventricular systolic strain in children with Kawasaki disease. Pediatric cardiology 2014;35(7): 1191–1197. Marwick TH, et al. Myocardial strain measurement with 2 dimensional speckle-tracking echocardiography: definition of normal range. JACC: Cardiovascular Imaging 2009;2(1): 80–84. Disclosure of Interest None declared