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Juvenile spondyloarthropathy is an umbrella term for a group of childhood rheumatic diseases that can cause chronic arthritis extending to the axial skeleton before the age of 16. Although ankylosing spondylitis has aortic involvement as one of its most important effects, this relationship has not been extensively studied in children with juvenile spondyloarthropathy. Here, a cross-sectional study of the elastic properties of the aorta of 43 patients with juvenile spondyloarthropathy and 19 healthy controls is reported. Aortic stiffness assessed by echocardiography was used to predict the presence of aortitis, supplemented by pulsed-wave tissue Doppler indices. The right ventricular fractional area change was found to be significantly lower in the patients with juvenile spondyloarthropathy than in the healthy controls; aortic strain and distensibility were also significantly lower, and aortic stiffness index β was significantly higher; and the aortic root diameter change was significantly lower. According to HLA-B27 positivity, there was no difference in the stiffness parameters between the two groups. There was a significant correlation between juvenile Ankylosing Spondylitis Disease Activity Index and aortic diameter change, between juvenile Ankylosing Spondylitis Disease Activity Index and aortic stiffness. Thus, juvenile spondyloarthropathy is linked to high aortic stiffness parameters.

Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging from sudden-onset infantile DCM to adult-onset cardiomyopathy, sometimes of the restrictive hypertrophic form with a poor prognosis. We aimed to evaluate severe cardiomyopathy in Alström syndrome in infancy and display susceptible specific mutations of the disease, which may be linked to severe DCM. Secondarily we reviewed published mutations in ALMS1 with cardiomyopathies in the literature. Method We represent new mutagenic alleles related to severe cardiomyopathy and cardiac outcome in this patient cohort. We evaluated echocardiographic studies of nine Turkish patients diagnosed with Alström syndrome (between 2014 and 2020, at age two weeks to twenty years). Thus, we examined the cardiac manifestations of a single-centre prospective series of nine children with specific ALMS mutations and multisystem involvement. All patients underwent genetic and biochemical testing, electrocardiograms, and echocardiographic imaging to evaluate systolic strain with speckle tracking. Results Four of the patients died from cardiomyopathy. Three patients (including three of the four fatalities) with the same mutation (c.7911dupC [p.Asn2638Glnfs*24]) had cardiomyopathy with intra-familial variability in the severity of cardiomyopathy. Global longitudinal strain, a measure of systolic contractile function, was abnormal in all patients that can be measured. Conclusion Cardiac function in ALMS patients with infantile cardiomyopathy appears to have different clinical spectrums depending on the mutagenic allele. The c.7911dupC (p. Asn2638Glnfs*24) mutation can be related to severe cardiomyopathy. Parents can be informed and consulted about the progression of severe cardiomyopathy in a child carrying this mutagenic allele.

Objectives: Multi-system inflammatory syndrome in children (MIS-C) is a less understood and a rare complication of coronavirus disease-2019 (COVID-19). Given the scarce data regarding this novel disease, we aimed to describe the clinical features and outcomes of our patients with MIS-C and to evaluate the associated factors for the pediatric intensive care unit (PICU) admission. Methods: The MIS-C patients under 18 years old diagnosed and treated in three referral centers between July 2020 and March 2021 were included. Data of the patients were retrospectively obtained from their medical records. Results: Overall, 76 subjects (24 females) with a mean age of 8.17 ± 4.42 years were enrolled. Twenty-seven (35.5%) patients were admitted to the PICUs. The two most common systemic involvement patterns were cardiac and gastrointestinal. There was only one lethal outcome in a patient with underlying acute lymphoblastic leukemia. Those with higher procalcitonin levels at admission were found to stay longer in the hospital (r = 0.254, p = 0.027). The risk of PICU admission increased with age (aOR: 1.277; 95% CI: 1.089–1.498; p = 0.003) and with decreased initial serum albumin levels (aOR: 0.105; 95% CI: 0.029–0.378; p = 0.001). Conclusion: Although there is a wide clinical variability among the patients with MIS-C, we suggest that those with older age and lower initial serum albumin levels merit close monitoring due to their higher risk for PICU admission.Key Points• Although there is a wide variability regarding the management process among clinicians, MIS-C is a rare, severe, less understood complication of COVID-19 that may cause rapid clinical deterioration in the patients.• Clinicians should be aware of this condition in children with persistent fever and a family history of COVID-19.• Older age and low serum albumin levels are the independent predictors for the pediatric intensive care unit admission among MIS-C patients. © 2021, International League of Associations for Rheumatology (ILAR).

BACKGROUND/OBJECTIVE Juvenile spondyloarthropathies (JSpAs) are a group of inflammatory diseases characterized by asymmetric peripheral arthritis (especially in lower extremities), axial skeleton involvement, and enthesitis. Although cardiovascular findings of inflammatory diseases such as juvenile systemic lupus erythematosus (SLE) and juvenile scleroderma (SD) are well documented, there are only a few studies assessing the cardiovascular consequences of JSpA in the literature. METHODS Forty patients with JSpA and 20 healthy controls were included into this cross-sectional study. Cardiac functions of the participants were evaluated by conventional echocardiography and pulse-wave (PW) tissue Doppler. RESULTS The patients with JSpA had higher mitral lateral S (p = 0.005) and E' wave (p < 0.001), tricuspid A' wave (p = 0.03), ejection fraction (p = 0.03) and shortening fraction (p = 0.01) than the control patients. In contrast, the patients with JSpA had lower left ventricle MPI (p = 0.01) and the ratio of tricuspid E'/A' waves (p = 0.05). Patients with enthesitis detected on magnetic resonance imaging had lower ejection fraction (p = 0.05), the ratio of E/A waves (p = 0.03) and had higher Mitral lateral A' wave (p = 0.01) than those without. There was a significant inverse correlation between the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and PW transmitral A velocity (r = -0.256, p = 0.03), the BASDAI score and tricuspid annular plane systolic excursion (r = -0.301, p = 0.04), the BASDAI score and the ratio of E/E' waves (r = -0.276, p = 0.02), and the Juvenile Spondyloarthritis Disease Activity Index and PW transmitral A velocity (r = -0.246, p = 0.04). CONCLUSIONS In this study, we report the possible early signs of RV diastolic dysfunction and possible association between magnetic resonance imaging-confirmed enthesitis and lower LV systolic functions. Early identification of cardiac dysfunctions can help with prevention of long-term cardiovascular complications.

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

The medical records of 2283 patients with ventricular septal defect (VSD) were reviewed to determine spontaneous closure, left ventricular-to-right atrial shunt, subaortic ridge, and aortic valve prolapse. One thousand eight hundred and twenty-three patients had been followed 1 month to 26 years (median 4 years) by echocardiography. Most of 460 patients could not be followed due to transportation of the institution. VSD was perimembranous in 68.8% (1255), trabecular muscular in 21.7% (395), muscular outlet in 6% (109), muscular inlet in 2.6% (48), and doubly committed subarterial in 0.9% (16). Defect size was classified in 66.8% (1218) as small, in 15.7% (286) as moderate, and in 17.5% (319) as large. VSD closed spontaneously in 18.8% (343 of 1823 patients) by ages 40 days to 24.9 years (median, 1.8 years). One hundred fifty-seven of 1255 perimembranous defects (12.5%) and 167 of 395 trabecular muscular defects (42%) closed spontaneously (p 0.001). Defect size became small in 306 (16.8%) of patients with VSD at a median of 2.5 years. Aneurysmal transformation was detected in 32.9% (600), left ventricular-to-right atrial shunt in 9.7% (176), subaortic ridge in 2.6% (48) of 1823 patients who were followed. In 381 (20.9%) of the 1823 patients, the VSD had been closed by a surgical or transcatheter technique. Surgery is required in one-fifth of patients with subaortic ridge or aortic valve prolapse. In conclusion, isolated VSDs are usually benign abnormalities that tend to shrink and close spontaneously.

Speckle-tracking echocardiography is a recently developed technique for the evaluation of myocardial deformation or strain. Our objective was to examine strain through a mid-term follow-up of patients with Kawasaki disease.MethodsWe explored left ventricular mechanics using speckle-tracking echocardiography in 35 patients with a history of Kawasaki disease at least 6 months after the acute phase. We also included 30 healthy children as controls. Strain data sets were acquired for the quantification of left ventricular global strain, segmental strain, and left ventricular ejection fraction.ResultsThe mean age of our patients was 25.6±15.4 months. At a median follow-up of 57.5 months (16.5–98.2), although both values were in the normal range, the mean left ventricular ejection proportion of patients (57.3%) was a little lower than that of controls (p⩽0.05). Patient strain values at the basal inferoseptal (20.0), basal anterolateral (19.5), apical septal (23.3), and apical inferior (24.0) segments were lower compared with controls. In all, seven patients had coronary aneurysms during follow-up. Kawasaki disease patients with pyuria had lower left ventricular strain at the mid anterior, mid anteroseptal, apical anterior, and apical inferior segments and global longitudinal strain compared with patients with no pyuria (p⩽0.05).ConclusionIn children with a history of Kawasaki disease, impairment of left ventricular mechanics occurs especially within the left anterior descending artery territories.

Objective: To investigate the association between fetal left ventricular modified myocardial performance index (LMPI) and intrahepatic cholestasis of pregnancy (ICP) and to evaluate the value of LM...

Objective: To compare the fetal modified myocardial performance index (Mod-MPI) in appropriately grown, early (EO) and late onset (LO) fetal growth restricted (FGR) fetuses and to assess it...

Isotretinoin, a synthetic derivative of vitamin A, is one of the most potent human teratogens, and is mainly utilized for the treatment of severe recalcitrant nodular acne. Retinoic acid embryopathy is well defined in the literature.The mother was referred for a fetal posterior fossa abnormality, first detected at 20 weeks of gestation. The mother used isotretinoin until 18 weeks gestation. Ultrasound examination revealed hypertelorism, cerebellar hypoplasia, vermian agenesis, truncus arteriosus, anotia, thymic aplasia, corpus callosum hypoplasia. An intrauterine diagnosis of fetal retinoid syndrome was confirmed by fetopsy after termination of pregnancy.The typical findings of fetal retinoid syndrome can be visualized with ultrasound in early second trimester.

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.

PubMed ID: 28704174 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. © 2018 ABMSFBIH.

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.

To evaluate the incidence, associated cardiac and extracardiac malformations and clinical outcome of fetuses with dextrocardia.A retrospective review of 3556 fetal echocardiograms between 2000 and 2011 revealed 39 cases of dextrocardia. Dextrocardia was defined as right-sided positioning of the fetal heart. Prenatal and postnatal records of the fetuses were reviewed.The incidence was 1.1%. Of the 39 fetuses, 22 were primary dextrocardia and 17 were dextroposition. Diaphragmatic hernia was the most common cause of dextroposition with the incidence of 76%. Of the fetuses with dextroposition 35.5% had a cardiac anomaly. The survival rate of dextroposition was 31.2% and none of the survivors had an associated cardiac anomaly. Primary fetal dextrocardia was most common with situs solitus (45.4%), followed by situs ambiguous (36.3%) and then situs inversus totalis (18.1%). Structural cardiac malformations were found in 100%, 80% and 25% of fetuses with situs ambiguous, solitus and inversus, respectively. Of the dextroposition, 47.6% terminated pregnancy, 14.2% resulted in intrauterine death, 9.5% died after birth, and 28.5% survived.A wide spectrum of complex cardiac malformations are associated with fetal dextrocardia. Fetal echocardiography enables detection of complex cardiac anomalies so that parents can be appropriately counselled.

ObjectiveWe aimed, in this study, to compare dispersion of the p wave in patients with type 1 diabetes to nondiabetic control subjects, and to investigate the relationship between the dispersion of the p wave and cardiac autonomic dysfunction in diabetic children.MethodsWe enrolled 49 patients with type 1 diabetes, and 32 age- and sex-matched healthy subjects, measuring the Valsalva ratio, resting heart rate, and orthostatic hypotension in all. The duration of the p wave was measured manually on a high-resolution computer screen. Dispersion, defined as the difference between maximum and minimum durations of the p waves, was also measured in the 12-lead electrocardiogram before and after the Valsalva maneuver.ResultsThe mean age of the patients and their controls were 14.2 ± 4.8 years, and 12.7 ± 4.5 years, respectively. The mean duration of diabetes had been 6.2 ± 4.6 years. Maximal and minimal values for the duration of the p wave were significantly decreased in the diabetic children, with the dispersion itself significantly increased. Values for the dispersion in the diabetic subjects were similar before and after the Valsalva maneuver, whereas dispersion was found significantly increased after this maneuver in the controls. The differences in the Valsalva ratio, resting heart rate, and orthostatic hypotension between the groups, on the other hand, were not found to be statistically significant.ConclusionThe noted increase in the dispersion of the p wave in diabetic children reveals the onset of cardiac electrophysiological heterogeneity before it is possible to detect parasympathetic and sympathetic dysfunction with other tests.

The purpose of this study was to evaluate the feasibility of multislice computed tomographic (MSCT) angiography as a noninvasive method for detecting ostial, proximal, and middle segment coronary stenosis or occlusion and anatomy in patients with transposition of the great arteries who had undergone arterial switch operation (ASO). Sixteen-detector-row MSCT angiography was performed in 16 patients treated with ASO for transposition of the great arteries. The median age was 10.3 years (range, 6.2-16.3 years). Sixteen-detector-row MSCT angiography was performed in 16 patients who had undergone ASO. CT imaging was performed in the craniocaudal direction from 2 cm above the carina up to the heart basis. Noninvasive assessment of coronary artery stenosis and anatomy were investigated by MSCT angiography. Two patients were excluded from the study because of artifacts. Of 14 evaluated patients, 1 patient had ostial stenosis (7.1%). A coronary artery anatomy variant was present in six patients: left main artery (LMA) and right coronary artery (RCA) originating from the right sinus as a single orifice (n = 2); left circumflex artery (LCX) originating from the RCA (n = 1); LMA and RCA, after branching to the LCX, originating separately from the right sinus (n = 1); and LMA (n = 1) and left anterior descending artery (LADA; n = 1) originating directly from the right sinus. Intramural bridging in the LAD (n = 2) was detected. Five patients were normal. In conclusion, MSCT angiography, as a noninvasive, feasible technique for assessing coronary stenosis or occlusion and anatomy, can be used in the follow-up of patients who have undergone ASO.

Constriction of the ductus arteriosus in utero may be an ominous event and may lead to congestive heart failure, foetal hydrops, and even foetal or neonatal death (Levin et al. 1979, Harlass et al....

Juvenile scleroderma (JS) represents a rarely seen group of connective tissue diseases with multiple organ involvement. Cardiac involvement in JSS is well known and, although rare in children, it may be an important cause of mortality and morbidity. Therefore, an early determination of cardio-vascular and pulmonary involvement is of the most relevance to reduce the mortality in patients with juvenile scleroderma. The aim of the study was to explore the non-invasive methods (Doppler echocardiography, pulmonary function tests), Forced vital capacity (FVC) and Carbon monoxide diffusion capacity (DLCO) in the assessment of the cardiopulmonary involvement in patients with JS. The assessment of pulmonary arterial pressure (PAP) and risk factors for pulmonary arterial hypertension (PAH) were made by the measurement of maximum tricuspid insufficiency (TI), end-diastolic pulmonary insufficiency (PI), ratio of acceleration time (AT) to ejection time (ET) (AT/ET), right atrial pressure (RAP) and contraction of vena cava inferior during inspiration. Thirty-five patients with confirmed JS were included in the study. The mean age of onset of the disease was 9.57 years (median 10 years, range 2-18 years). The mean disease duration and follow-up time was 2 years (median 1 year, range 0.5-8 years) and 3.57 years (median 2 years, range 0.5-14.5 years), respectively.The values of all the analyzed parameters including TI, PI, AT/ET, PAP, FVC and DLCO were found to be within normal ranges in all the patients tested, confirming an uncommonness of cardiopulmonary involvement in patients with juvenile scleroderma.

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 dysplas...

The medical records of 2283 patients with ventricular septal defect (VSD) were reviewed to determine spontaneous closure, left ventricular-to-right atrial shunt, subaortic ridge, and aortic valve prolapse. One thousand eight hundred and twenty-three patients had been followed 1 month to 26 years (median 4 years) by echocardiography. Most of 460 patients could not be followed due to transportation of the institution. VSD was perimembranous in 68.8% (1255), trabecular muscular in 21.7% (395), muscular outlet in 6% (109), muscular inlet in 2.6% (48), and doubly committed subarterial in 0.9% (16). Defect size was classified in 66.8% (1218) as small, in 15.7% (286) as moderate, and in 17.5% (319) as large. VSD closed spontaneously in 18.8% (343 of 1823 patients) by ages 40 days to 24.9 years (median, 1.8 years). One hundred fifty-seven of 1255 perimembranous defects (12.5%) and 167 of 395 trabecular muscular defects (42%) closed spontaneously (p

Generalised lymphangiomatosis is a rare disease that is characterized by widespread bony and soft tissue involvement of lymphangioma. Radiological evaluation is crucial because the site and extent of the lymphangioma are important prognostic factors. The computed tomography, ultrasonography and magnetic resonance images showed sharply defined, non-enhanced cystic lesions involving the mediastinum, bones, spleen, lung, and lower neck. We report here a case that was referred to us for investigation of marked cardiomegaly.

Objective: To emphasize the formation of fibrous aneurysmal structures in the setting of muscular ventricular septal defects Methods: Among patients with muscular ventricular septal defects followed in our institute, we described six who were diagnosed with formation of fibrous aneurysms. Of the patients, one was female and others were male. The age at diagnosis ranged from eight days to 16 years. In one, the defect opened between the ventricular inlets, but in the others the defects occupied the middle part of the apical trabecular septum. Results: The sizes of defects at initial echocardiographic evaluation ranged from 2.9 to 8 millimetres. The period of follow up for four patients was from 5 months to 7 years, one patient could not be followed up, and the other had already been diagnosed when first seen in our Institution. In our second and third patients, no aneurysm was seen during the initial echocardiographic evaluation, and it was recognized during follow-up. In these two patients, sequential echocardiographic examinations showed that the formation of the aneurysm made the defect smaller, with it almost closing in one. Conclusion: Although seen most frequently in the setting of perimembranous defects, fibrous aneurysms can also form adjacent to, and reduce the size of, muscular ventricular septal defects.

Aortic arch anomalies have been well described in the literature; the term refers to a variety of congenital abnormalities of the position or branching pattern, or both, of the aortic arch (Yoo et ...

Myocardial bridging is usually seen in the setting of hypertrophic cardiomyopathy or left ventricular hypertrophy. It is rarely reported in an asymptomatic patient with an otherwise structurally normal heart. Familial subaortic stenosis is also a rare entity, and its mode of inheritance is still unknown. Here, we described the case of a 13-year-old asymptomatic girl with a positive family history of sudden cardiac death and subaortic stenosis who was diagnosed with severe myocardial bridging concomitant with familial subaortic stenosis.

Prenatal diagnosis of a congenital coronary artery fistula between the left coronary artery and the right ventricle was established at 28 weeks of gestation. Hydrops fetalis developed during follow-up and the baby died on the first day after delivery. It is rare for coronary artery fistulas to become symptomatic during fetal life.

Background: Assessment of right ventricular function is a key point in the follow-up of operated patients with tetralogy of Fallot. Cardiac magnetic resonance assessment of right ventricular function is considered the gold standard. However, this technique is expensive, has limited availability, and requires significant expertise to acquire and interpret the images. Myocardial performance index and isovolumic acceleration have recently been studied for the assessment of right ventricular function and are shown to be simple yet powerful tools for assessing patients with right ventricular dysfunction of various origins. Methods: In this study, the integrity of myocardial performance index and isovolumic acceleration obtained by tissue Doppler imaging echocardiography to quantify right ventricular function was assessed in 31 patients operated for tetralogy of Fallot. Myocardial performance index and isovolumic acceleration measurements were compared with the parameters derived by cardiac magnetic resonance imaging. Results: In this study, a significant correlation has not been detected between cardiac magnetic resonance-originated right ventricular ejection fraction, pulmonary regurgitation fraction and myocardial performance index, isovolumic acceleration obtained by tissue Doppler imaging echocardiography from the lateral tricuspid annulus of the right ventricle. Conclusion: We have concluded that when evaluated separately, myocardial performance index and isovolumic acceleration obtained from tissue Doppler imaging echocardiography can be used in the long-term follow-up of patients who have been operated for tetralogy of Fallot, but that they do not show correlation with cardiac magnetic resonance-originated right ventricle ejection fraction and pulmonary regurgitation fraction.

Cervical aortic arch is a rare congenital anomaly. We present a case of left-sided cervical aortic arch, found in a patient with mitral regurgitation, mitral stenosis, and a regurgitant bicuspid aortic valve. There was atypical obstruction proximally within the arch. The obstructive segment was resected, and corrected by performing an end-to-side anostomosis. Mitral valvoplasty was performed in the same surgical procedure. To the best of our knowledge, a cervical arch has not previously been described with such atypical obstruction, and in association with multiple lesions involving the left heart.

In a 4-year-old boy with severe mitral regurgitation, cross sectional echocardiography combined with Doppler interrogation confirmed the presence of isolated perforation of the aortic leaflet of the mitral valve. The perforation was closed with a patch of fresh autologous pericardium. Serial echocardiograms taken postoperatively showed no regurgitation across the mitral valve.

Objective Heart rate variability (HRV) measures are altered in various cardiac and non-cardiac situations in children. The autonomic nervous system is assumed to have a role in the pathophysiology of atrial septal defect (ASD). In this study, we evaluated the autonomic system by measuring HRV in children with ASD. Methods Twenty-eight patients with ASD and 32 healthy children (mean ages: 6.6 ± 2.1 years and 6.4 ± 2.2 years, respectively) were enrolled in the study. Twenty-four-hour ambulatory electrocardiographic recordings were obtained and the seven time-domain (SDNN, SDANN, rMSSD, SD, SDNN index, PNN50, and mean RR) and four frequency-domain (VLF, LF, HF, and LF/HF ratio) indices of HRV were analyzed. Results A significant decrease in calculated HRV variables was observed in children with ASD as compared to controls. The HRV alteration was found in both time-domain and frequency-domain parameters. Conclusions Our results indicate that HRV is decreased in children with ASD, which implies parasympathetic withdrawal and sympathetic predominance.

Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosis of macrosomia and tetralogy of Fallot. He also had macrocephaly; a high forehead; capillary hemangioma on the forehead, upper lip, and philtrum; generalized loose skin; postaxial polydactyly of both hands and feet, with neuroimaging findings of polymicrogyria and thrombosis in sagittal sinus and sinus rectus. His condition was diagnosed as macrocephaly-capillary malformation syndrome in the neonatal period and he died suddenly during sleep at 6 months of age. The clinical course in this syndrome is not as benign as was previously thought. Careful follow-up of these patients with particular emphasis on neuroradiologic and cardiologic evaluation might help decrease the risk of sudden death and to improve long-term outcome.

Address for Correspondence/Yaz›sma Adresi: Dr. Bulent Koca, Istanbul Universitesi Cerrahpasa Tip Fakultesi, Cocuk Sagligi ve Hastaliklari Anabilim Dali, Cocuk Kardiyoloji Bolumu, Istanbul-Turkiye Phone: +90 212 530 69 19 Fax: +90 212 632 86 33 E-mail: bkoca78@yahoo.com Accepted Date/Kabul Tarihi: 07.09.2011 Available Online Date/Cevrimici Yayin Tarihi: 03.12.2011 ©Telif Hakk› 2011 AVES Yay›nc›l›k Ltd. Sti. Makale metnine www.anakarder.com web sayfas›ndan ulas›labilir. ©Copyright 2011 by AVES Yay›nc›l›k Ltd. Available on-line at www.anakarder.com doi:10.5152/akd.2011.197 Bulent Koca, Ayse Guler Eroglu, Selman Gokalp, Levent Saltik, Funda Oztunc

Early recognition of congenital cardiac pathologies and their treatment by means of palliative or corrective surgery at birth or infancy has vital importance. Successful repair of congenital cardiac defects by surgical methods has gained importance especially during the last twenty years. As the scope of the surveillance increased so did the interest in the outcomes of these treatments when the patients had reached puberty and adulthood. The purpose of our research was to study the psychological framework of the adolescents who had experienced these surgeries by listening both the children and the parents talk about their feelings and experiences. Our data was accumulated through interviews with 17 adolescents and their families, using qualitative methods. The main theme at the end of the analysis was "to be strong and resistive". We reached the conclusion that this condition was not a pathological build up but an attitude of coping, as it did not cause loss of functionality. The defensive psychological mechanisms used by these adolescents consisted of repression, compensation and reaction formation. We believe that this information is important to understand the real meaning of the manners displayed when these adolescents and their families pursue their daily lives, communicate and make relationships with their environment and especially professionals in the health services.

Familial Mediterranean fever is a hereditary disease characterised by recurrent and self-terminated attacks of fever and polyserositis. An earlier study found that adult patients of Familial Mediterranean fever had an abnormally longer QT dispersion and corrected QT dispersion, markers for ventricular arrhythmogenicity. QT dispersion is a simple non-invasive arrhythmogenic marker that can be used to assess homogeneity of cardiac repolarisation; however, it has not been studied in children with Familial Mediterranean fever before. The aim of this study was to assess QT dispersion and corrected QT dispersion, and their relationship with systolic and diastolic function of the left ventricle in a group of children with Familial Mediterranean fever. We performed electrocardiography and Doppler echocardiography on patients and controls. Maximum QT, minimum QT, QT dispersion, corrected QT, maximum corrected QT, minimum corrected QT, and corrected QT dispersion intervals were measured from standard 12-lead electrocardiography. No statistically significant differences were found between the groups in QT dispersion, corrected QT dispersion, and systolic–diastolic function of the left ventricle parameters. During the 12 months of follow-up, no ventricular arrhythmias were documented in either group.

OBJECTIVE Atrial isomerism is a congenital disorder, which is characterized by lateralization defects in normally asymmetrical developing organs like the heart. Atrial isomerism is supposed to be caused by molecular defects during early development. The NKX2-5 is a cardiac specific transcription factor, which initiates and regulates downstream transcriptional cascades of cardiogenesis. The HAND1 is another transcription factor expressed in the heart, and it is characterized by an asymmetrical pattern of expression. In this study, we aimed to test whether mutations in NKX2-5 and HAND1 genes play a role in the etiology of atrial isomerism. METHODS This case-control study consisted of 70 patients who underwent surgical treatment for congenital heart defects including atrial isomerism, 80 healthy subjects (HAND1 gene) and 40 healthy subjects (NKX2-5 gene). All exons and exon-intron boundaries of NKX2-5 and HAND1 genes were analyzed by SSCP, and suspected samples were sequenced for mutation analysis. Digestion with appropriate restriction enzymes was performed for analysis of known mutations and polymorphisms. The frequencies of the alleles and the genotypes were compared among patient and control groups using the Chi-square and the Fisher tests when appropriate. RESULTS In intronic region of HAND1 gene, we identified a C>G substitution both in patients and controls. Frequency of mutant allele (11, 42%) was found higher (p=0.046) in patient group than that of the control group (2.5%). Association between atrial isomerism and genotypes with mutant allele was found borderline significant (p=0.054). In NKX2-5 gene, we identified heterozygous Q170X (Gln170ter) mutation in one patient. We did not found any correlation between defined sequence variations and clinical properties of the patients. CONCLUSION Our results suggest that mutations or sequence variations in HAND1 or NKX2-5 genes may play role in etiology or pathogenesis of atrial isomerism.

We studied the duration and dispersion of the P wave in patients after a Senning operation, assessing its value in detecting the risk of atrial tachycardias.We measured the duration and dispersion of the wave in surface 12 lead electrocardiograms obtained from 18 patients with sinus rhythm, having a mean age of 12.8 years, with 13 being males and 5 females, who had undergone a Senning operation, comparing the values obtained in 35 age and gender-matched healthy people. The patients had undergone repair at a mean age of 13.4 months, and had a mean duration of follow-up of 12.8 years after the procedure. We also made 24 hour Holter recordings.The maximal duration of the P wave, at a mean of 129.3 milliseconds, and dispersion with a mean of 78 milliseconds, were both significantly increased in the patients compared with their controls, the mean values for the normal subjects being 103.7 and 54 milliseconds. Supraventricular tachycardia was detected in 1 of 3 patients with dispersion greater than 100 milliseconds, and in 2 of 15 patients (13%) with dispersion less than 100 milliseconds as measured from the Holter recordings (p > 0.05).Thus, the maximum duration and dispersion of the P wave were increased in patients after a Senning operation, but we were unable to establish any relationship between these measurements and atrial tachycardias as observed using Holter monitoring.

Anomalies of pulmonary veins are uncommon and vary widely in their anatomic spectrum and clinical presentation. A 20-year-old woman with complaints of effort-induced dyspnea and easy fatigability was diagnosed with a third left pulmonary vein with abnormal return and arteriovenous fistula accompanied by a secundum atrial septal defect (ASD). Complete surgical repair was performed by ASD closure with a pericardial patch and triple ligation of the left vertical vein and associated third pulmonary vein. The patient was discharged on the seventh postoperative day in good health. Her last control examination was performed in the second postoperative year, revealing normal echocardiographic findings with an excellent clinical course.

Objective Our aim was to investigate the change in diameter of holes within the oval fossa, and the role of aneurismal formation in reducing the size of the hole, in patients diagnosed during infancy with isolated defects in the floor of the fossa. Patients In a retrospective study, we included 100 patients diagnosed during the first year of life with an isolated defect in the floor of the oval fossa who had subsequently been observed for at least 5 years. There were 56 females and 44 males. They had been admitted to hospital because of a murmur in 65, heart failure in 9, and other reasons in 17. The remaining 9 patients were referred from other institutions with an established diagnosis of defects within the oval fossa. Patients were grouped according to the size of the deficiency in the floor of the fossa. Defects of diameter less than 5 mm were considered to be small, and 20 patients had such defects. Medium sized defects were judged to be between 5 and 8 mm, with 26 patients fulfilling this criterion, with the other 54 patients having large defects with diameters greater than 8 mm. Results The overall spontaneous rate of closure was 27%. Of those with medium defects, half closed spontaneously, but only 7.5% of those with large defects showed such closure. Of the patients who were diagnosed with heart failure, 9 had defects measuring 7 mm, and of these, 6 required surgical closure, 1 patient had spontaneous closure, while the defect became smaller in the remaining 2. On the other hand, in 9 out of 10 patients who had aneurysms, the diameter of the defect was between 7 and 15 mm. Amongst these patients, the defect closed spontaneously in 3, and reduced in size in the others. Conclusion When holes within the oval fossa measure 8 mm or below, the majority of patients with experience either spontaneous closure or show decrease in size of the defect. In those with larger defects, the size usually increases, and surgery is needed for closure. If there is aneurismal formation, however, even when the defect measures more than 8 mm, the defect usually closes on its own or gets smaller.

A 12-year-old female patient, who had emergency left modified Blalock–Taussig shunt operation during neonate and a total cavo-pulmonary shunt operation performed at the age of 5 years following a diagnosis of pulmonary atresia with intact ventricular septum (PAIVS), was under regular follow-up. At her last visit, she was admitted with exercised-induced anginal symptoms. …

There is no specific criteria established to guide physicians in the differential diagnosis of primary mitral valve prolapse (MVP) and rheumatic MVP. Previous studies suggested that history and pathology of mitral valve could be helpful in differential diagnosis of MVP. The aim of this study was to evaluate the value of QT interval, QT dispersion, and diastolic function in differential diagnosis of MVP. We examined electrocardiographies and echocardiographies of 24 primary MVP patients, 20 rheumatic MVP patients, and 21 healthy subjects. MVP was defined as superior displacement of the mitral leaflets more than 2 mm into the left atrium during systole. QT dispersion was significantly higher in primary MVP patients (71 +/- 13.5 ms, p0.01). Maximum QT dispersion value in rheumatic MVP patients was 55 ms. E and A velocity values which show ventricular early and late diastolic filling, were lower in primary MVP patients (p0.01). There was no difference in the heart rate corrected QT interval values between the primary MVP patients (397 +/- 28.1), rheumatic MVP patients (403 +/- 23.8) and healthy children (404 +/- 15.8; p0.05). Our findings may indicate that QT dispersion can be used as a parameter for differential diagnosis of primary MVP and rheumatic MVP. Further studies are needed to identify a cut-off point of QT dispersion.

This study evaluates the course of supravalvular aortic stenosis (SVAS)-associated right ventricular outflow tract (RVOT) obstruction and the results of surgery in children. We reviewed the medical records of 24 patients diagnosed with SVAS at initial echocardiographic examination or during the following period of RVOT obstruction. Very mild SVAS was defined as a transvalvular Doppler peak systolic instantanous gradient (PSIG) less than 25 mmHg, mild stenosis as 25-49 mmHg, moderate stenosis as 50-75 mmHg, and severe stenosis as more than 75 mmHg. The mean age of the patients was 3.1 +/- 2.9 years (range, 7 days to 12.7 years), and 18 of the patients (72%) were male. Fifteen patients had Williams' syndrome. Seventeen patients (71%) were followed for a mean of 5.2 +/- 3.8 years (range, 7 months to 13.5 years). Among 17 patients with complete follow-up records, 1 (6%) had very mild, 5 (29%) mild, 3 (18%) moderate, and 3 (18%) severe aortic stenosis at initial echocardiographic examination. In a newborn patient with mild pulmonary valvular stenosis. SVAS became evident after 2 months and progressed rapidly. Supravalvular aortic stenosis was very mild in 4 patients (23%), mild in 3 (18%), moderate in 3 (18%), and severe in 7 (41%) at last echocardiographic examination. Of 17 patients who were followed, 11 (65%) had RVOT obstruction at initial echocardiographic examination. RVOT obstruction disappeared in 5 patients, regressed in 1 patient, and appeared in 1 patient over the follow-up period. Four patients underwent operation. It appears reasonable that patients with very mild and mild stenosis should be followed medically every 1 or 2 years and patients with moderate stenosis once a year. Newborns with SVAS should be followed for rapid progression of SVAS. In some patients, RVOT obstruction may disappear, and SVAS may develop in others with RVOT obstruction. Patients with RVOT obstruction (at the valvular, supravalvular, or peripheral pulmonary arterial level) should be evaluated carefully for development of SVAS at follow-up.

We investigated the morphology of the stenotic aortic valve, the progression of the stenosis, and the onset and progression of aortic regurgitation (AR) in patients with congenital aortic valvular stenosis (AVS). The medical records of 278 patients with AVS were reviewed, with the patients with concomitant lesions besides AR excluded. Very mild aortic stenosis was defined as a transvalvular Doppler peak systolic instantaneous gradient (PSIG) less than 25 mmHg, mild stenosis as 25-49 mmHg, moderate stenosis as 50-75 mmHg, and severe stenosis as more than 75 mmHg. The mean age of the patients was 4.9 +/- 4.3 years (range, 3 days to 15 years), and 203 (73%) were male. The number of the cusps was determined with two-dimensional echocardiography in 266 patients (95%): unicuspid in 3 patients (1%), bicuspid in 127 patients (48%), and tricuspid in 136 patients (51%). A total of 192 of all patients were followed for 2 months to 14.6 years (mean 4.2 +/- 3.3 years) with medical treatment alone. Among 72 patients with very mild stenosis at initial echocardiographic examination, 20% had mild, 3% moderate, and 1% severe stenosis after a mean period of 3.7 years. In 70 patients with mild stenosis at initial echocardiographic examination, 28% had moderate and 9% severe stenosis after a mean period of 5 years. Among 44 patients with moderate stenosis at initial echocardiographic examination, 36% had severe stenosis after a mean period of 3.7 years. Among 192 patients, 40% had AR (3% trivial, 28% mild, and 9% moderate) at initial echocardiographic examination. After a mean period of 4.2 years, 58% of the patients had AR (13 % trivial, 25% mild, 16% moderate, and 4% severe). There was not statistically significant difference between catheterization peak systolic gradients (47 +/- 16 mmHg) and Doppler estimated mean gradients (45 +/- 9 mmHg) (p = 0.53), whereas Doppler PSIGs (74.9 +/- 15.7 mmHg) were higher than catheterization peak systolic gradients (p0.0001) in 25 patients who were studied in the catheterization lab. Patients with very mild stenosis may be followed with a noninvasive approach every 1 or 2 years, and an annual follow-up is suggested for patients with mild stenosis. Nearly one-third of patients with moderate stenosis at initial echocardiographic examination had severe stenosis after a mean period of 3.7 years. Therefore, we recommend, that patients with moderate stenosis undergo noninvasive evaluation every 6 months. Doppler estimated mean gradient is very useful in predicting the need for intervention in children with AVS.

This study evaluates the progression of stenosis, onset and progression of aortic regurgitation (AR), and the results of surgical outcomes in children with isolated discrete subaortic stenosis (SAS). The medical records of 108 patients (mean age, 5.5 +/- 3.8 years; range, 3 days to 18 years) with isolated discrete SAS were reviewed. Patients with lesions other than AR were excluded. Very mild stenosis was defined as Doppler peak systolic instantaneous gradient (PSIG) less than 25 mmHg, mild stenosis as 25-49 mmHg, moderate stenosis as 50-75 mmHg, and severe stenosis as more than 75 mmHg. Seventy-eight of 108 patients were followed for 2 months to 14 years (mean, 4.8 +/- 3.7 years; median, 5 years) with medical treatment alone. In these patients, the mean PSIG at last echocardiogram was higher than the mean PSIG at initial echocardiogram (39 +/- 19 vs 31 +/- 12 mmHg, respectively; p < 0.001). Among 24 patients with very mild stenosis at initial echocardiogram, 10 had mild and 2 had moderate stenosis after a mean period of 5.6 years. Among 46 patients with mild stenosis at initial echocardiogram, 11 had moderate and 5 had severe stenosis after a mean period of 4.1 years. Only 1 patient among the 8 patients with moderate stenosis at initial echocardiogram had severe stenosis after a mean period of 2.7 years. Thirty-nine patients (50%) had AR (13% trivial, 33% mild, and 4% moderate) at initial echocardiogram. After a mean period of 4.8 years, 77% of the patients had AR (10% trivial, 53% mild, 9% mild-moderate, and 5% moderate). Twenty-four patients underwent surgery. Preoperatively, mean Doppler PSIG and AR incidence were 64 +/- 17 mmHg and 91% (22/24), respectively. The mean Doppler PSIG was 30 +/- 19 mmHg and AR was present in all of the patients a mean period of 4.1 years after surgery. Two patients underwent reoperation for recurrent SAS and AR. Patients with very mild or mild stenosis may be followed noninvasively every year. One patient of the 8 patients with moderate stenosis progressed to severe stenosis, and moderate AR developed in 2 patients after a mean of 2.7 years. We recommend that patients with moderate stenosis undergo careful evaluation to determine whether surgery is necessary due to the severity of stenosis and AR.

Bilateral pulmonary artery aneurysms developed in the course of staphylococcal endocarditis in a 6-year-old girl with ventricular septal defect. Consecutive computed tomography scans revealed the progressive enlargement of one of the aneurysms. She underwent an urgent left upper lobectomy because of the impending rupture and a possible life-threatening hemorrhage. The second ipsilateral aneurysm was plicated in order to exclude the aneurysm sac. In the next operation the ventricular septal defect was closed and vegetations located on the tricuspid valve were removed. On follow-up spontaneous thrombotic resolution occurred in the right-sided aneurysms.

Aortic valve prolapse (AVP) was detected in 82 (7.5%) of 1096 patients with ventricular septal defect (VSD) (in 50 at initial echocardiographic examination and in 32 at follow-up) by echocardiography. Of 82 patients with AVP, aortic regurgitation (AR) was detected in 53 (65%) (in 28 at initial echocardiographic examination and in 25 at follow-up), resulting in an incidence of AR of 4.8% (of VSD). The percentage of AVP (20.8%) and AR (16.7%) in muscular outlet VSDs was larger than the percentage of AVP (10.6%) and AR (6.8%) in perimembranous VSDs (p

The development of the connection between umbilical vein and ductus venosus is of primary importance in the development of the venous drainage system and supply of oxygenated blood to the fetus (Ho...

Objective: The frequency of residual shunting or recanalization was investigated in patients in whom a persistently patent arterial duct had been doubly ligated and transfixed during surgical closure. Methods: We investigated in retrospective fashion for any residual shunting 325 patients who, between January 1990 and December 2004, had undergone surgical double ligation and transfixion of a persistently patent arterial duct. Shunting was discovered in 10 patients, of whom four male and six female. Results: Of those with residual shunting. 4 patients had initially exhibited only persistent patency of the duct, while the other 6 had associated mild cardiac lesions. The mean age at operation was 5.5 years, with a range from 0.5 to 17.9 years. Postoperatively, the mean period for detecting the residual shunt was 22.8 months, with a range from 2 days to 72 months. The frequency of residual shunting amongst our patients, therefore, was 3.1%. We detected the residual shunt by colour-flow Doppler mapping in all patients, although a continuous murmur was heard in only one patient on physical examination. Conclusion: Our findings suggest that clinical sensitivity of detecting residual shunting subsequent to surgical closure of the persistently patent arterial duct is low, and hence that colour-flow Doppler interrogation should be a part of follow up. Residual shunting, or recanalization, may occur even after double ligation and transfixion of the duct. Since the residual flow may emerge after months, or even years, follow-up is needed for longer periods.