Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect

Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months. His second 4-year-old sister’s echocardiographic examination revealed hypertrophic cardiomyopathy, also suffering from easy fatigability. Her tandem MS spectrometry analyses resulted in CUD. We sequenced all the exons of the SLC22A5 gene encoding the high affinity carnitine transporter OCTN2 in the DNA. And one new mutation (c.1427T>G → p.Leu476Arg) was found in the boy and his sister in homozygous form, leading to the synthesis of an altered protein which causes CUD. The parent’s molecular diagnosis supported the carrier status. In order to explore the genetic background of the patient’s dysmorphic appearance, an array-CGH analysis was performed that revealed nine copy number variations only. Here we report a novel SLC22A5 mutation with the novel hallmark of its association with dysmorphologic feature

Evaluation of Electrocardiographic Markers for the Risk of Cardiac Arrhythmia in Children with Obesity

Aim:This study was conducted to examine the electrocardiographic markers used in the risk assessment of cardiac arrhythmia in children with obesity.Materials and Methods:In this prospective study, 60 children aged 3-17 years with exogenous obesity and 60 age and sex-matched healthy controls were included. Demographic data, assessment of atrial and ventricular arrhythmia risk markers in electrocardiography, and standard echocardiography measurements were performed. Values of p<0.05 were considered significant.Results:The mean ages of the study and control groups were 11.51±3.48 years and 10.74±3.72 years, respectively. Both groups had 30 males and 30 females. The study group had significantly higher average mean body mass index (BMI) compared to the control group. In electrocardiographic examinations, P-wave dispersion, QT dispersion (QTd), corrected QTd (QTcd), Tpeak-Tend (Tp-e), Tp-e/QT, and Tp-e/QTc values were significantly higher in the obese group compared to the control group. In echocardiographic examinations, the dimensions of the heart chambers and vascular structure and wall thicknesses were found to be significantly higher in those children with obesity.Conclusion:The electrocardiographic risk markers used to predict cardiac arrhythmias were found to be increased in those children with obesity. This may suggest that increased body weight and adiposity may have unfavorable effects on the cardiac conduction system

Resistant Chorea Successfully Treated With Intravenous Immunoglobulin: A Case Report*

Sydenham’s chorea (SC) is common cause of acquired chorea in childhood. SC occurs mainly in children with untreated streptococcal infections. An effective list of therapeutic options has been used to treat this disorder: antiepileptic drugs (valproic acid, carbamazepine etc.), haloperidol, chlorpromazine, amphetamines, steroids, plasma exchange and intravenous immunoglobulins (IVIG). We report a 12-year-old girl with carditis and severely generalized chorea and successfully treated with IVIG. This case report shows that IVIG is an effective treatment for the chorea cases resistant to anticonvulsants, dopamine antagonists and steroids, although larger studies are needed to confirm this conclusion

Effects of carvedilol therapy on cardiac autonomic control, QT dispersion, and ventricular arrhythmias in children with dilated cardiomyopathy

The purpose of this study was to examine the effects of carvedilol therapy on autonomic control of the heart and QT-interval dispersion (QTd) among children with idiopathic dilated cardiomyopathy (DCM) whose symptoms were not adequately controlled with standard congestive heart failure therapy. Material/Methods: Patients with DCM who were treated with carvedilol were enrolled in the study. All patients had undergone carvedilol therapy in addition to standard therapy for at least 6 months. Clinical, echocardiographic, and electrocardiographic parameters, and 24-h Holter records of patients were retrospectively evaluated before and after carvedilol treatment. Results: A total 34 patients (mean age: 7.4±4.3 years) with DCM were analyzed in the study. The median follow-up period was 9.5 months. After the 6 months of carvedilol therapy the clinical score significantly improved, left ventricular ejection fraction (LVEF) and fractional shortening (LVFS) significantly increased, and left ventricle enddiastolic dimensions and end-systolic dimensions significantly decreased. There were statistically significant increases in mean SDNN, SDANN, rMSSD, and pNN50 (p=0.002, p=0.001, p=0.008, and p=0.026, respectively). After the carvedilol therapy, SDNN was correlated with the clinical score, heart rate, LVEF, LVFS, and total premature ventricular contractions (PVCs). In addition, rMSSD and pNN50 were correlated with heart rate, LVEF and LVFS. A significant reduction was observed in QTc-minimum, QTc-maximum, and QTd values (434.9±40.7 vs. 416.1±36.5, 497.8±43.6 vs. 456.3±41.7, 58.6±17.1 vs. 49.3±15.6; p<0.001, p=0.001, and p=0.008, respectively). QTd was significantly related to PVCs (r=0.62, p=0.02). Conclusions: We conclude that the addition of carvedilol to standard therapy can improve clinical symptoms and heart rate variability, and reduce in arrhythmia markers in children with DCM

Evaluation of Cardiac Functions of Patients with Benign Joint Hypermobility Syndrome

We sought to investigate whether echocardiography with tissue Doppler imaging identifies myocardial dysfunction in children with benign joint hypermobility syndrome (BJHS). This cross-sectional study enrolled 75 children with BJHS and 70 healthy children. We performed detailed echocardiography in individuals with BJHS without inherited connective tissue disorders. Any congenital or acquired cardiac disease was excluded by clinical and echocardiographic examination. Both groups were similar in terms of age, sex, and body mass index. The diameter of the aortic annulus and sinus valsalva were wider in patients with BJHS. There was no significant differences in ejection fraction or mitral and tricuspid annular plane systolic excursion between the two groups. Pulsed-wave Doppler-derived E/A ratios in mitral and tricuspid valves were similar in both groups. Deceleration time of early mitral inflow was prolonged in patients with BJHS. Mitral and tricuspid annulus Ea velocity were significantly lower in children with BJHS. Ea, Aa, and Ea/Aa ratios in the interventricular septum, left ventricle posterior wall, and right ventricle free wall were lower in patients with BJHS than in the control group. The E/Ea ratio was greater in patients with BJHS than in the control group. Isovolumic relaxation time and right-ventricular (RV) and left-ventricular (LV) myocardial performance indices (MPIs) were greater in patients with BJHS. This study showed the diastolic dysfunction in patients with BJHS. In addition, we detected increased LV and RV MPI. We believe that BJHS may affect proteins of the myocardial cytoskeleton and extracellular matrix

Takotsubo kardiyomiyopatisi

Derginizin son sayısında yayımlanan ve Takotsubo kardiyomiyopatisi (TK) tanısı ile izlenen altı hastanın değerlendirildiği “Takotsubo kardiyomiyopatisi hakkında klinik deneyimimiz ve ülkemizden bildirilen ilk olgu serisi” başlıklı çalışmayı[1] ilgi ile okuduk. Göğüs ağrısı, nefes darlığı, çarpıntı gibi yakınmalar ile acil servislere başvuran hastaların ayırıcı tanısında akılda tutulması gereken, ancak çoğu zaman unutulan bu Derginizin son sayısında yayımlanan ve Takotsubo kardiyomiyopatisi (TK) tanısı ile izlenen altı hastanın değerlendirildiği “Takotsubo kardiyomiyopatisi hakkında klinik deneyimimiz ve ülkemizden bildirilen ilk olgu serisi” başlıklı çalışmayı[1] ilgi ile okuduk. Göğüs ağrısı, nefes darlığı, çarpıntı gibi yakınmalar ile acil servislere başvuran hastaların ayırıcı tanısında akılda tutulması gereken, ancak çoğu zaman unutulan bu hastalığın ülkemizdeki sıklığı ya da prognozu konusunda yeterli veriler bulunmadığından bu tür çalışmalar önemlidir

Multisystem inflammatory syndrome in children associated with COVID-19 in 101 cases from Turkey (Turk-MISC study)

Aim Multisystem inflammatory syndrome in children (MIS-C) may cause shock and even death in children. The aim of this study is to describe the clinical features, laboratory characteristics and outcome of children diagnosed with MIS-C in 25 different hospitals in Turkey. Methods The retrospective study was conducted between 8 April and 28 October 2020 in 25 different hospitals from 17 cities. Data were collected from patients' medical records using a standardised form. Clinical and laboratory characteristics and outcomes according to different age groups, gender and body mass index percentiles were compared using multivariate logistic regression analysis. Results The study comprised 101 patients, median age 7 years (interquartile range (IQR) 4.6-9.3); 51 (50.5%) were boys. Reverse-transcriptase polymerase chain reaction (PCR) assay was positive in 21/100 (21%) patients; 62/83 (74.6%) patients had positive serology for SARS-CoV-2. The predominant complaints were fever (100%), fatigue (n = 90, 89.1%), and gastrointestinal symptoms (n = 81, 80.2%). Serum C-reactive protein (in 101 patients, median 165 mg/L; range 112-228), erythrocyte sedimentation rate (73/84, median 53 mm/s; IQR 30-84) and procalcitonin levels (86/89, median 5 mu g/L; IQR 0.58-20.2) were elevated. Thirty-eight patients (37.6%) required admission to intensive care. Kawasaki disease (KD) was diagnosed in 70 (69.3%) patients, 40 of whom had classical KD. Most patients were treated with intravenous immunoglobulin (n = 92, 91%) and glucocorticoids (n = 59, 58.4%). Seven patients (6.9%) died. Conclusion The clinical spectrum of MIS-C is broad, but clinicians should consider MIS-C in the differential diagnosis when persistent fever, fatigue and gastrointestinal symptoms are prominent. Most patients diagnosed with MIS-C were previously healthy. Immunomodulatory treatment and supportive intensive care are important in the management of cases with MIS-C. Glucocorticoids and intravenous immunoglobulins are the most common immunomodulatory treatment options for MIS-C. Prompt diagnosis and prompt treatment are essential for optimal management