Sezen Ugan Atik

Everolimus treatment of a newborn with rhabdomyoma causing severe arrhythmia

Rhabdomyoma is the most common cardiac tumour in children often associated with tuberous sclerosis. Arrhythmia caused by cardiac rhabdomyomas may be the initial sign of tuberous sclerosis. Rhabdomyomas unresponsive to other treatments could be successfully managed with everolimus, which has demonstrated benefit in tuberous sclerosis. We report a case of rhabdomyoma causing severe arrhythmia in a newborn managed successfully with everolimus.

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.

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.

Autoimmunity and intestinal colonization by Candida albicans in patients with type 1 diabetes at the time of the diagnosis

Purpose Type 1 diabetes mellitus (T1DM) is a chronic and immune-mediated disease, which is characterized by the progressive destruction of pancreatic beta cells. T1DM precipitates in genetically susceptible individuals through environmental factors. In this study, we aimed to evaluate the impact of autoimmunity and intestinal colonization of Candida albicans on the development of T1DM. Methods Forty-two patients newly diagnosed with T1DM and 42 healthy subjects were included in this monocentric study. The basic and clinical characteristics of the patients were recorded. T1DM-, thyroid-, and celiac-associated antibodies were evaluated. Stool cultures for C. albicans were performed to assess whether or not gut integrity was impaired in patients with T1DM. Results The evaluation of T1DM- and thyroid-associated antibodies showed that the prevalences of islet cell antibodies and antithyroperoxidase positivity were higher in the study patients than in the patients in the control group. Furthermore, the direct examination and culture of fresh stool samples revealed that 50% of the patients with T1DM and 23.8% of the control subjects had fungi (C. albicans). Conclusion Through this study, we suggest that the presence of intestinal C. albicans colonization at the time of the diagnosis of T1DM may indicate impairment of normal intestinal microbiota. We also suggest that there may be a tendency of T1DM in patients with a high prevalence of intestinal C. albicans.

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.

Clinical, molecular, and genetic evaluation of galactosemia in Turkish children

AIM Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world. MATERIAL AND METHODS This is a retrospective study that includes the moleculer and genetic charcteristics of 14 patient who were diagnosed as having galactosemia between January 2009 and January 2011. RESULTS Nine patients were male and 5 female. Consanguineous marriage was detected in the family history of 7 patients. One patient had a history of a deceased sibling with a confirmed diagnosis of galactosemia. The main reasons for admission to the hospital were jaundice in 9, hypoglycemia in 2, sepsis in 2, and elevated liver enzymes in 1 patient. The Beutler test was positive in all patients. The mean enzyme activity was 0.36±0.26 μmol/mL. Only 6 of our cases were diagnosed in the early period (first 15 days). Cataract was present in four patients. Q188R mutation was observed in 13 patients, and homozygote N314D and homozygote E340X mutations were observed in one patient. Three patients had impaired neurologic development according to the Denver Developmental Screening Test II. CONCLUSION The most common genetic abnormality was Q188R mutation. Only 43% of our patientss disease could be diagnosed at an early stage. We suggest that galactosemia should be included in the national newborn screening program in order to make earlier diagnoses.

A case with right atrial appendage aneurysm and hydrops foetalis

Right atrial appendage aneurysm is a very rare malformation that may be congenital or acquired (Gulati et al. 2011). Congenital-type atrial appendage aneurysms are thought to develop due to dysplasia of muscular structure in the atrium wall, while the acquired type generally develops as a post-traumatic lesion (Tejero-Hernandez et al. 2012). Although it may be diagnosed during the neonatal period, most cases are diagnosed in the third or fourth decades of life. Right atrial appendage aneurysm can be asymptomatic or can cause supraventricular arrhythmia and thromboembolic events (Ishii et al. 2012). This study presents a patient with a right atrial appendage aneurysm diagnosed via foetal echocardiography that was referred due to hydrops foetalis at the 20th week of gestation.

Spontaneous closure of ductus arteriosus diagnosed by foetal echocardiography.

1 Professor in Pediatric Cardiology, Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatric Cardiology, Istanbul, Turkey, 2 Associate Professor in Pediatric Cardiology, Mehmet Akif Ersoy Cardiovascular Research and Training Hospital, Department of Pediatric Cardiology, Halkali, Istanbul, Turkey and 3 Assistant of Pediatric Cardiology, Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatric Cardiology, Istanbul, Turkey

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.

Percutaneous transcatheter snare vegetectomy in a child.

Surgical vegetectomy may be indicated in patients with unresolving sepsis, heart failure, recurrent embolism, or the presence of large vegetations >10 mm in size. Percutaneous vegetectomy using a snare may be a reasonable option instead of open-heart surgery in selected patients. We describe the case of a patient with operated tetralogy of Fallot and infective endocarditis who underwent vegetectomy via a percutaneous approach.