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Background: Mitochondrial fatty acid oxidation disorders (FAODs) cause impairment in energy metabolism and can lead to a spectrum of cardiac pathologies including cardiomyopathy and arrhythmias. The frequency of underlying cardiac pathologies and the response to recommended treatment in FAODs was investigated., Methods: Sixty-eight children (35 males, 33 females) with the diagnosis of a FAOD were included in the study. Cardiac function was evaluated with 12-lead standard electrocardiography, echocardiography, and 24 h Holter monitoring., Results: Forty-five patients (66%) were diagnosed after disease symptoms developed and 23 patients (34%) were diagnosed in the pre-symptomatic period. Among symptomatic patients (n: 45), cardiovascular findings were detected in 18 (40%) patients, including cardiomyopathy in 14 (31.1%) and conduction abnormalities in 4 (8.8%) patients. Cardiac symptoms were more frequently detected in primary systemic carnitine deficiency (57.1%). Patients with multiple acyl-CoA dehydrogenase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and mitochondrial trifunctional protein deficiencies also had an increased frequency of cardiac symptoms. Patients with medium-chain acyl-CoA dehydrogenase, very long-chain acyl-CoA dehydrogenase, and carnitine palmitoyltransferase I deficiencies had a lower prevalence of cardiac symptoms both during admission and during clinical follow up. Cardiomyopathy resolved completely in 8/14 (57%) patients and partially in 2/14 (14.3%) patients with treatment. Two patients with cardiomyopathy died in the newborn period; cardiomyopathy persisted in 1 (7.1%) patient with very long-chain acyl-CoA dehydrogenase deficiency., Conclusion: Early diagnosis, treatment and follow up made a significant contribution to the improvement of cardiac symptoms of patients with FAODs., (© 2022 Japan Pediatric Society.)

Congenital aneurysm of the ascending aorta is a rare cardiovascular pathology and usually associated with well-known connective tissue disorders. We present an idiopathic ascending aortic aneurysm extending to the aortic arch in an antenatally diagnosed newborn who required immediate surgical treatment due to the rapid progression of aneurysm size at the age of 1 day., (Copyright © 2019 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

The objective is to evaluate the walking distance and oxygen desaturation during the six-minute walk test and to establish correlations between the test results and other clinical findings so to assess the reliability of the test for evaluation of children with juvenile systemic sclerosis (jSSc). A total of 25 jSSc, 27 juvenile systemic lupus erythematosus (jSLE), and 30 healthy controls were included. The test is conducted according to the guidelines recommended by the American Thoracic Society, standardized in 2002. Median values of walking distances were 470 (415-580) m in jSSc; 518 (376-618) m in jSLE; and 562 (493.5-618) m in healthy controls. jSSc patients walked significantly less distance comparing to controls (p < 0.001). jSSc patients with lung involvement walked less than those without lung involvement [463.2 (418-565) m vs. 491.5 (415-580) m], but without a significant difference (p = 0.82). The frequency of lower extremity pain during and after the test was significantly higher in the jSSc cohort compared to both control groups (p = 0.001). Patients with myalgia were found to walk less than those without myalgia [446.5 (415-538) m vs. 493.5 (428-580) m] (p = 0.04). Patients with jSSc have limited walking distances. Despite the decreased walking distance among jSSc patients with ILD and/or PAH, the limited number of patients makes the results inappropriate for interpretation. Low extremity pain influences the walking capacity of jSSc patients.

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease of childhood and adulthood. Development of systemic amyloidosis and frequent attack influence quality of life and survival. There is sporadic evidence indicating subclinical inflammation in patients with FMF. We aimed to assess subclinical inflammation using neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), and C-reactive protein (CRP) in pediatric patients with FMF in the attack-free period. In this retrospective study, we reviewed the files of all FMF patients in our pediatric rheumatology outpatient clinic in a tertiary center and enrolled those with sufficient clinical and laboratory data. We also enrolled 73 controls. We grouped the patients according to being in attack period or attack-free period. We compared CRP, NLR, PLR, and WBC (white blood cell) levels between different mutations and polymorphisms. We also compared patients in the attack period with those in attack-free period. We enrolled 61 patients in attack period, 509 patients in attack-free period, and 73 controls. There was no difference between patients with different mutations with respect to NLR or PLR levels in the attack-free period. However, CRP levels were higher in patients with homozygous exon 10 mutations, especially those with homozygous M694V mutations compared with other mutations. However, CRP levels were mostly normal in these patients. Our data are against the reported fact that patients with FMF have higher NLR or PLR levels in attack-free periods. However, CRP levels were higher in the presence of homozygous exon 10 mutations (in particular homozygous M694V mutations).

Background: Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF., Methods: In this retrospective cross-sectional study conducted with patients' files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutation types and clinical findings were compared with variance analysis., Results: The mean age was 6.9 ± 3.4 years (range, 1.8-11.6 years). The most common symptom was fever (97.3%). Thirty-four of the patients (6.04%) were admitted with periodic fever only. Of these patients, M694V was the most common mutation type (73.5%). The percentage of the patients predominantly presenting with recurrent abdominal pain was 77.78% and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia was significantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patients homozygous for M694V (61.4%). Pericardial effusion was documented in the echocardiography of 10.9% of the 229 children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likely to harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients with homozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients of cases (29.2%), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-A had homozygous M694V mutation., Conclusion: The most common mutation in children in Turkey with FMF is the M694V mutation. Recurrent abdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients with M694V and E148Q mutations.

A healthy 19-year-old nulliparous pregnant woman was referred to our clinic because of fetal pericardial effusion and ascites. The sonographic examination performed at 28 weeks' gestation revealed scalp edema, severe skin edema, bilateral hydrocele, ascites, and pleural and pericardial effusion. Fetal echocardiographic examination showed that both ventricles were dilated with severely depressed contractility. The aortic annulus, ascending aorta, aortic arch, descending aorta, common iliac arteries, main pulmonary artery, tricuspid valve, and mitral chordae tendinae were hyperechogenic. Right ventricular outflow tract was narrow with decreased blood flow. There was tricuspid and mitral valve regurgitation and tricuspid valve stenosis. On the basis of these findings, we made the diagnosis of generalized arterial calcification, which is characterized by extensive calcification of internal elastic lamina and intimal proliferation of medium-sized and large arteries. This diagnosis was confirmed histologically after the termination of pregnancy., (© 2014 Wiley Periodicals, Inc.)

Aims: Williams syndrome (WS) is a microdeletion syndrome affecting cardiovascular and connective tissue as well as the endocrine and central nervous systems in 1 in 10,000 live births. This study aims to identify and evaluate cardiovascular abnormalities (CVAs) in 45 WS patients., Patients and Methods: We retrospectively reviewed a cohort of WS patients who were followed at our institution from January 1, 1990 through December 31, 2010. WS was clinically diagnosed by an experienced medical geneticist and confimed by fluorescence in situ hybridization. CVAs were assessed using electrocardiography, echocardiography or cardiac catheterization., Results: Twenty-seven patients (60%) were male; 18 were female (40%).The mean age at presentation was 4.6 +/- 3.1 years (3 months-13 years); the follow-up period was 6.9 +/- 4.4 years (6 months-18 years). CVAs were found in 86% of patients, the most common one being supravalvar aortic stenosis (SVAS) in 73% (isolated in 48%), peripheral pulmonary artery stenosis (PAS) in 42%, and mitral valve prolapse (MVP) in 22%. Less common were aortic insufficiency (15%), ventricular septal defect (11%), valvular pulmonary stenosis (11%), and aortic arch hypoplasia (8%) and coarctation (2%). Hypertension was present in 22% of patients. Surgical or catheter-based interventions were performed in 22% of cases. Two patients were lost in the postoperative period., Conclusion: CVAs were found in more than four out of five patients, the most common ones being SVAS and PAS. Although surgery was performed in more patients with SVAS than with PAS, SVAS was minimal or mild in most patients and improved in few cases.

Aim: We evaluated ambulatory patients with Duchenne muscular dystrophy from the cardiovascular standpoint and studied the correlation between the results of electrocardiographic (ECG) findings, left ventricular ejection fraction (LVEF), troponin T and N-terminal pro-brain natriuretic peptide (NT-proBNP) levels and patients' North Star Ambulatory Assessment scores., Methods: Fifty patients of ages 6-12 (8.9 ± 2.8) were enrolled in this cross-sectional study. Cardiac evaluation included electrocardiography, echocardiography and cardiac enzyme tests., Results: North Star scores ranged from 6/34 to 34/34. Twenty-eight patients (56%) had ECG changes. The most frequently seen ECG abnormalities were short PR interval (14%, n= 7), right ventricular hypertrophy (16%, n= 8), prolonged QTc interval (10%, n= 5), prominent Q wave (10%, n= 5) and T wave inversion (44%, n= 22). In 10 patients (20%), LVEF was below 55%, troponin T and NT-proBNP levels were significantly elevated (P= 0.003 and P < 0.001, respectively). When North Star scores were compared to patients' age, enzyme levels, ECG and echocardiographic results, we discovered negative correlation with age (P < 0.001) and troponin T levels (P= 0.02) and positive correlation with LVEF (P= 0.02)., Conclusion: Patients with North Star scores of ≤16 are more at risk of developing cardiomyopathies. Troponin T is a cardiac index that can be used for evaluating myopathic patients and it seems to be correlated with the proBNP levels and LVEF values., (© 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians).)

Background: The aim of this study was to comprehensively evaluate electrocardiographic (ECG) findings of isolated left ventricular noncompaction (IVNC) patients at initial diagnosis and to explore the correlation between them and the clinical, echocardiographic, and magnetic resonance imaging (MRI) findings., Methods: Twenty-three patients diagnosed with IVNC by echocardiography and cardiac MRI between January 2006 and June 2010 were enrolled in this study. The patients were examined with standard ECG and 24-hour Holter ECG. For comparison purpose, ECGs of 50 healthy children of similar ages and demographic characteristics were taken., Results: In 87% of patients, ECG abnormalities were found. The most frequently seen ECG findings were left ventricular hypertrophy, ST-segment depression, and negative T wave related to abnormal repolarization particularly in DII, DIII, and V(4-6) leads, as well as prolonged PR and QTc intervals. No ECG features or patterns were found that were specific to the disease. In contrast to adult patients, while no intraventricular conduction defects (particularly in the left bundle brach) were found in any of our patients, 13% had considerable bradycardia and one required a pacemaker. The Holter ECG recordings showed supraventricular tachycardia attacks in two patients and a short ventricular tachycardia attack in one. Patients whose echocardiograms and MRI showed left ventricular systolic dysfunction and left ventricular dilatation had signs of left ventricular hypertrophy and repolarization abnormality on their ECGs, but there was no significant difference in PR, QRS, and QTc intervals., Conclusion: Regardless of how frequently left ventricular hypertrophy and repolarization abnormalities are found on IVNC patients' initial ECGs, we think that they are not unique to the disease but are related to the severity of the cardiomyopathy., (©2011, Wiley Periodicals, Inc.)

Background: Left ventricular non-compaction (LVNC) is a specific cardiomyopathy that occurs following a disruption of endomyocardial morphogenesis. This study presents clinical findings, diagnostic features, treatment and follow-up of pediatric patients diagnosed with LVNC., Methods: Patients with LVNC who were followed from January 2006 to March 2010 were included in this study. Diagnosis was made with the use of characteristic findings of magnetic resonance imaging and echocardiography. Holter electrocardiography and metabolic screening tests were also performed in all patients., Results: A total of 24 patients were studied (18 male, six female). Patient age at diagnosis was 50 ± 60 months (eight days to 15 years). Average follow-up period was 22 ± 12 months (four months to four years). Findings at diagnosis were as follows: eight (33%) patients had heart failure, five (20%) had rhythm abnormalities, five (20%) had cardiomegaly, two had murmurs, two had cyanosis, and two presented with fatigue. Ten (41%) patients had been followed previously with other diagnoses. In 21 (87.5%) patients, electrocardiographic abnormalities were noted, especially left ventricular hypertrophy and ST-T changes. Patients had an average ejection fraction of 46% (18-73%) and three of them had additional congenital heart disease (patent ductus arteriosus, aortopulmonary window and complex cyanotic heart disease). Scanning for metabolic diseases revealed fatty acid oxidation disorder in one patient, and mitochondrial disease in another. During follow-up, a permanent pacemaker was implanted in a patient with severe bradycardia and ventricular dysfunction, and three patients died., Conclusion: LVNC can be diagnosed at any age from newborn to adolescent and has a variable clinical course. Closer study of patients with cardiomegaly and heart failure can reduce delays in diagnosis of LVNC.

We aimed to evaluate the predictors of the severity of chronic rheumatic valvar disease. The long term follow-up records of 139 patients with chronic rheumatic carditis were reviewed. Children were followed-up on an outpatient basis for a period ranging from 1-16 years (5.0 +/- 3.7 years). Mitral regurgitation either isolated (51%, n=71) or combined with aortic regurgitation (AR) (49%, n=68) was observed in all cases of the initial attack of rheumatic carditis. AR at initial attack of the rheumatic carditis was found to be affected by gender (AR was more associated with males, p = 0.032), combined mitral and aortic regurgitation (CMAR), and presence of MR at initial attack (p = 0.000 and p = 0.012, respectively) with univariate analysis. The effect of CMAR on AR at initial attack was also significant by multivariate analysis (p = 0.000). CMAR, MR, and AR at initial attack had significant effects on CMAR at final evaluation (p = 0.000, p = 0.020, and p = 0.000, respectively) in univariate analysis. Multivariate analysis revealed the significant effects of CMAR and MR at initial attack on CMAR at final evaluation (p = 0.000 and p = 0.005, respectively). Univariate analysis showed that MR and AR at initial attack, and CMAR at final evaluation, had significant effects on MR at final evaluation (p = 0.000, p = 0.029, and p = 0.000, respectively). MR at initial attack and CMAR at final evaluation had significant effects on MR at final evaluation with multivariate analysis (p = 0.001 and p = 0.003, respectively). AR at final evaluation was affected by CMAR and AR at initial attack (p = 0.000 and p = 0.000, respectively), and CMAR and MR at final evaluation (p = 0.000 and p = 0.000, respectively) with both univariate and multivariate analysis. Mitral valve prolapsus was more common in patients with a longer duration (37.5%, 6 out of 16) than those with a shorter duration (11%, 14 out of 123) and the difference was significant (p = 0.020). In conclusion, the initial severity of valve involvement and the presence of CMAR at initial attack were found to be the best predictors for the severity of chronic rheumatic valvar disease in this study.

Background: Down's syndrome (DS) is the most common chromosomal abnormality due to a trisomy of chromosome 21 commonly associated with congenital heart defects (CHDs). This study aimed to evaluate the frequency and types of CHD patterns in Turkish children with DS., Method: The data relate to paediatric patients with DS who underwent cardiologic screening between 1994 and 2007 and were reviewed in our Paediatric Cardiology unit., Results: Four hundred and twenty-one out of the 1042 paediatric patients with DS studied over a 13-year period had associated CHD. Of these, 320 (77.6%) had a single cardiac lesion, while the remaining 92 patients (22.4%) had multiple defects. The most common single defect was an atrioventricular septal defect (AVSD) found in 141 patients (34.2%), followed by 69 patients (16.7%) showing secundum type atrial septal defect, and ventricular septal defect in 68 patients (16.5%). AVSDs were the leading type, isolated or combined with other cardiac anomalies with an overall occurrence of 19.8% of paediatric patients with DS, and 49.2% of paediatric patients with both DS and CHD., Conclusion: This is the first study concerning the frequency and type of CHD observed in Turkish children with DS. The high frequency of AVSD in Turkish children with DS implied that early screening for CHDs by echocardiography is crucial. The correction of AVSDs in paediatric patients with DS should be performed in the first 6 months of life to avoid irreversible haemodynamic consequences of the defect.

Introduction: Atrial septal defect (ASD) is one of the most common congenital heart diseases in children. P-wave dispersion has been reported to be associated with non-homogeneous propagation of sinus impulses. The heterogeneity of atrial conduction time may predispose the atria to arrhythmias. The aim of this study was to determine the impact of surgical repair on P-wave indices in children with isolated secundum ASD., Methods: Children with isolated secundum ASD undergoing surgical repair (n=50; mean age, 7.0+/-3.0 years) and healthy controls (n=51; mean age, 7.6+/-2.7 years) were compared. Maximum P-wave duration (Pmax), shortest duration (Pmin) and P-wave dispersion (Pd) were measured using 12-lead surface electrocardiography., Results: Mean Pmax was found to be significantly higher in children with ASD compared with controls (95.2+/-10.8 vs 84.1+/-9.2 msec; P<0.001), and Pd before surgery was significantly higher compared with controls (47.4+/-12.0 vs 38.8+/-9.7 msec; P<0.001). Both P-wave indices were significantly decreased within the first year after surgical closure - the values decreased to those comparable to healthy controls (Pmax, 86.2+/-9.7 msec; Pd, 39.8+/-10.7 msec; P>0.05)., Conclusion: Surgical closure of ASD in children decreases Pmax and P-wave conduction time. We speculate that earlier closure of the defect may play an important role in avoiding permanent changes in the atrial myocardium and atrial fibrillation in adulthood.

Fish oil has a cardioprotective effect in adults with ischemic heart disease. The authors examined the effects of fish oil in children with idiopathic dilated cardiomyopathy (DCM). Eighteen DCM patients (group I) and 12 healthy children (group III) were given fish oil (10 mL/d). Their cardiac findings were compared with those of 11 patients with DCM who did not receive fish oil (group II). After 6.62+/-1.70 months, left ventricular ejection fraction had increased by 8.44%+/-3.80% (P<.05), in group I; 2.48%+/-3.85% (not statistically significant) in group II; and 0.84%+/-2.34% (not statistically significant) in group III. Left ventricular internal diastolic diameter (mm) was reduced by 4.36+/-4.86 (P=.001) in group I and 1.92+/-5.37 (P=.263) in group II, but increased by 0.22+/-2.54 (not statistically significant) in group III. The results suggest that fish oil leads to accelerated improvement of left ventricular function. The authors believe that if these results are confirmed in larger studies, fish oil should be added to the standard anticongestive therapy of children with DCM.

Midodrine hydrochloride is a potent peripherally-acting alpha1 agonist that is well absorbed and rapidly metabolized to its active metabolite. It has been used for the treatment of refractory syncope but has the important side effect of supine hypertension. A 10-year-old boy with severe symptomatic orthostatic hypotension was treated with midodrine. After therapy, syncope attacks ceased but he suffered nighttime headaches, nausea, transient rash and itchy/prickly scalp. Midodrine was discontinued when supine hypertension was noticed. However, his supine hypertension continued until day 19 after discontinuation. This case shows that patients receiving midodrine should be observed for supine hypertension for a prolonged period.

Early detection of arrhythmias after congenital heart disease surgery is important because it can help decrease morbidity and mortality. Standard electrocardiograms (ECGs) contain frequencies between 0.05 and 100 Hz, but higher frequencies are also present. Using high-resolution technology, the highest amplitudes of these high-frequency components within the QRS complex can be recorded and analyzed. We studied the relationship between ventricular late potentials, ventricular arrhythmias and right ventricular systolic pressure in 22 patients who underwent tetralogy of Fallot repair (mean follow-up, 40.1 +/- 33.5 months). Holter ECG monitoring and signal-averaged electrocardiograms (SAECGs) were performed. SAECG parameters studied included the duration of the filtered QRS, the duration of terminal QRS below 40 muV, and the root mean square amplitude of the terminal 40 msec. Cardiac catheterization was performed on 19 patients. Eighteen healthy volunteers were studied as a control. Ventricular arrhythmias were found in 13 patients; right ventricular systolic hypertension was found in 1 patient. No significant residual ventricular septal defects were detected. Eight patients had ventricular late potentials. Right ventricular systolic pressure did not differ significantly between patients with or without late potentials. There were significant differences between patients with ventricular arrhythmias and healthy volunteers; filtered QRS duration was significantly longer in patients with ventricular arrhythmias. SAECG may be beneficial in determining ventricular arrhythmia risk in tetralogy of Fallot patients postoperatively.

Our objective was to characterize the etiologic factors and outcome for stroke in children. We retrospectively reviewed the charts of patients between the ages of 40 days and 94 months (36.5 +/- 23.7 months) with stroke seen at Istanbul Medical Faculty, Department of Pediatrics between January 1995 and December 2003. We found 79 cases of stroke: 57 ischemic and 22 hemorrhagic strokes. Seventeen children had vitamin K deficiency dependent hemorrhage. In 14 children stroke occurred as a complication of cardiac disease, 7 had moyamoya disease, 3 had protein C deficiency, 2 had thalassemia, 2 had hyperhomocysteinemia (methylene tetrahydrofolate reductase gene mutation), 2 were heterozygote for factor V Leiden, 3 had Down's syndrome, 1 was diagnosed with antiphospholipid syndrome, 1 had glycogen storage disease, and in 28 children no underlying cause could be found. Multiple risk factors were found in 4 children. The outcome in all 79 stroke patients was as follows: asymptomatic 60%; symptomatic epilepsy or persistent neurologic deficit 37%; death 3%; and recurrent stroke 5%. Thus, an underlying cause for stroke was identified in 65% of the children in the study group; 40% of the children either died or suffered motor and/or cognitive sequelae.

Strokes, cardiac or noncardiac, generally affect the elderly and only occasionally occur in children. A tendency to stroke occurs in cyanotic congenital heart disease; however, this report describes two female patients, aged 6 years and 4 years, who had no cyanotic disease. The first patient was admitted to the hospital after the first stroke but suffered a second one after admission. Her initial cardiac examination was normal. The other patient was admitted after a second right-sided hemiparesis. A mild pansystolic ejection murmur was observed at the lower left sternal border on auscultation; slight late diastolic murmurs with opening snap were found in the mitral valve area, and the second heart sound was increased. Transthoracic echocardiography revealed a mass in the anterior mitral valve in both patients. These masses were completely removed surgically and pathology revealed myxomas. Hemiparesis completely resolved after surgical and medical treatment. The clinical manifestations of cardiac tumors primarily depend on their number, size, location, and histology. Strokes and anterior mitral valve masses are extremely rare in children. In the two cases reported here, anterior mitral valve myxomas caused systemic embolization as a result of their location. Echocardiography should be performed early in patients presenting with recurrent strokes to exclude such pathology.

In children, dilated coronary arteries are usually caused by Kawasaki's disease. We report four children with dilated coronary arteries and nephropathic cystinosis.

Background: Rhabdomyomas are the most common benign cardiac neoplasms occurring in the fetus and neonate, with most of them identified within the first year of life. Cardiac rhabdomyomas are frequently associated with tuberous sclerorosis., Case: A 25-year-old, pregnant woman with no remarkable personal or family history was referred to us for a suspected fetal cardiac anomaly. Ultrasonographic examination of the fetus revealed multiple solid masses consistent with rhabdomyoma in the ventricular septum and ventricular wall. No other anomalies could be detected. Postnatal echocardiography confirmed the presence of cardiac rhabdomyoma, and periventricular subependymal multiple hamartomas were diagnosed by postnatal magnetic resonance imaging., Conclusion: When fetal cardiac rhabdomyoma is diagnosed, careful evaluation of other fetal structures, including brain and renal parenchyma, should be performed to search for signs of tuberous sclerosis.