Isolated mitral valve aneurysm in a 9-year old boy.

BACKGROUND: Isolated mitral valve aneurysm is rarely reported in children. In most cases it is associated with an underlying disease such as infective endocarditis. MVA can lead to severe complications that needs surgical intervention. CASE: In this report, we present a 9-year old asymptomatic male patient with anterior mitral valve aneurysm and rhythm disturbance diagnosed incidentally during pre-operative evaluation. CONCLUSIONS: Being rare in children, isolated MVA should be kept in mind in the differential diagnosis of mass lesions seen on the atrial side of the mitral valve. A 24-hour electrocardiogram may define subtle rhythm disturbances in these patients.

Thrombosis of isolated ductus arteriosus aneurysm in a newborn.

Congenital aneurysm of the ductus arteriosus is reported in 0.8% in neonatal autopsies; however, true incidence is unknown because of high rate of asymptomatic cases and spontaneous regression. Possible complications in symptomatic cases are thromboembolism, spontaneous rupture, erosion, infection, compression of airways, and death. In this report, we present a newborn with giant ductus arteriosus aneurysm (DAA) diagnosed in first day of life, surgically treated after thrombosis of aneurysm.

Transcatheter radiofrequency pulmonary valve perforation in newborns with pulmonary atresia/intact ventricular septum: Echocardiographic predictors of biventricular circulation.

OBJECTIVE: We report a single-institute experience of neonatal transvenous radiofrequency pulmonary valve perforation for pulmonary atresia/intact ventricular septum, with echocardiographic predictors of biventricular circulation. METHODS: Data were reviewed retrospectively for all neonates who underwent primary transvenous pulmonary valve perforation for pulmonary atresia/intact ventricular septum between January 2008 and November 2018 at our institution. We compared patients who need systemic-to-pulmonary shunt or ductal stenting with patients who did not need. RESULTS: During the study period, 31 patients with pulmonary atresia/intact ventricular septum underwent successful radiofrequency pulmonary valve perforation and balloon dilation of the pulmonary valve. There was no procedure-related mortality. Sixteen patients (52%) needed systemic-to-pulmonary shunt or ductal stenting after initial procedure. Among the survivors (follow-up time of 1 to 11.5 years), 15 patients had a biventricular circulation and 6 patients had 1 and 1/2 ventricular circulation. Two patients are awaiting for Fontan operation. Both the TV/MV annulus ratio (>0.85) and tricuspid valve z-score (>-1) were found to be a good predictor of a biventricular outcome in our cohort. CONCLUSIONS: Percutaneous radiofrequency pulmonary valve perforation and balloon valvotomy is an effective and safe primary treatment strategy for neonates with pulmonary atresia/intact ventricular septum. Ductal stenting or systemic-to-pulmonary shunt may be required in the majority of patients who had smaller right heart components. Preselection of patients according to tricuspid valve z-score and TV/MV annulus ratio allows predicting biventricular circulation.

Tricuspid annular plane systolic excursion and mitral annular plane systolic excursion cardiac reference values in 1300 healthy children: Single-center results.

BACKGROUND: Tricuspid annular plane systolic excursion (TAPSE) and mitral annular plane systolic excursion (MAPSE) are two echocardiographic parameters which provide reliable information about the longitudinal myocardial functions of the right and left ventricles in both adult and pediatric population. The aim of this study was to determine the TAPSE and MAPSE reference values in healthy children aged 0-18 years. METHODS AND RESULTS: This prospective study included 1300 healthy children evaluated with two-dimensional echocardiography. In addition to routine echocardiographic examination, the right and left ventricular systolic functions were assessed by TAPSE and MAPSE measurements. Statistical analyses were carried out in the groups of subjects stratified according to age and body surface area. The mean and standard deviation values and z-scores of TAPSE and MAPSE were developed in each group. CONCLUSIONS: The determination of reference values for TAPSE and MAPSE in healthy children will be of guidance in the evaluation of both healthy children and those with congenital or acquired heart diseases in which the right and left ventricular systolic functions are affected. The reference values obtained will contribute to the clinical practice and the future studies.

Evaluation of long-term cardiac side effects of anthracycline chemotherapy by conventional and non-conventional echocardiographic methods in childhood cancer survivors.

OBJECTIVE: Anthracycline chemotherapeutic agents carry the well-recognised risk of cardiac toxicity. The aim of this study was to determine the long-term effect of anthracycline chemotherapy on the biventricular function in childhood cancer survivors using tissue Doppler imaging and two-dimensional speckle tracking echocardiography. PATIENTS AND METHODS: The study included 45 survivors of childhood cancers and 50 healthy age-matched control patients. Cardiac function was prospectively studied with conventional echocardiography, tissue Doppler imaging, and speckle tracking echocardiography after completion of treatment. The same analysis was performed on matched controls. RESULTS: There was no difference in age, gender, height, and weight between the study and control groups. The mean anthracycline dose was 240 ± 106 mg/m2 and the mean remission duration was 8.2 ± 5 years (1-20 years) in the study group. Conventional echocardiography showed similar ejection fraction, shortening fraction, and left ventricle end-diastolic diameter in both groups. Mitral lateral and septal tissue Doppler imaging showed normal but according to control group relatively sub-normal systolic and diastolic function in patient group. The global longitudinal and circumferential strain and strain rates were significantly lower in the patient group compared to control group. Correlation analysis revealed a negative and significant correlation between total anthracycline dose and global longitudinal and circumferential strain and strain rates. CONCLUSION: Sub-clinical systolic and diastolic dysfunction may not be detected by conventional echocardiographic methods which are frequently used in daily practice. Sub-clinical systolic and diastolic dysfunction may be detected more sensitively by echocardiographic method such as speckle tracking echocardiography in childhood cancer survivors.

Should we start a nationwide screening program for critical congenital heart disease in Turkey? A pilot study on four centres with different altitudes.

BACKGROUND: To investigate the feasibility of critical congenital heart disease (CCHD) screening test by pulse oximetry in four geographical regions of Turkey with different altitudes, before implementation of a nationwide screening program. METHODS: It was a prospective multi-centre study performed in four centres, between December, 2015 and May, 2017. Pre- and post-ductal oxygen saturations and perfusion indices (PI) were measured using Masimo Radical-7 at early postnatal days. The results were evaluated according to the algorithm recommended by the American Academy of Pediatrics. Additionally, a PI value <0.7 was accepted to be significant. RESULTS: In 4888 newborns, the mean screening time was 31.5 ± 12.1 hours. At first attempt, the mean values of pre- and post-ductal measurements were: saturation 97.3 ± 1.8%, PI 2.8 ± 2.0, versus saturation 97.7 ± 1.8%, PI 2.3±1.3, respectively. Pre-ductal saturations and PI and post-ductal saturations were the lowest in Centre 4 with the highest altitude. Overall test positivity rate was 0.85% (n = 42). CCHD was detected in six babies (0.12%). Of them, right hand (91 ± 6.3) and foot saturations (92.1 ± 4.3%) were lower compared to ones with non-CCHD and normal variants (p <0.05, for all comparisons). Sensitivity, specificity, positive and negative predictive values, and likelihood ratio of the test were: 83.3%, 99.9%, 11.9%, 99.9%, and 99.2%, respectively. CONCLUSION: This study concluded that pulse oximetry screening is an effective screening tool for congenital heart disease in newborns at different altitudes. We support the implementation of a national screening program with consideration of altitude differences for our country.

Massive Pericardial Effusion and Tamponade Can Be a First Sign of Familial Mediterranean Fever.

Cardiac involvement is a rare initial presentation of familial Mediterranean fever (FMF). We described 2 children with massive pericardial effusion and cardiac tamponade, who were later diagnosed as having FMF based on clinical and laboratory findings. Therefore, in children presenting with massive pericardial effusion, FMF should be considered as one of the differential diagnoses. In addition, massive pericardial effusion is a serious clinical condition that requires emergency therapeutic approach including pericardiocenthesis. For medical treatment, colchicine is the first line therapy, but in resistant cases, other anti-inflammatory drugs can be used for extra anti-inflammatory effect.

Signos vasculares retinianos en recién nacidos con cardiopatía congénita crítica: serie de casos / Retinovascular findings in newborns with critical congenital heart disease: A case series

La cardiopatia congènita crítica (CCC) podría provocar cambios en la vasculatura de la retina. Sin embargo, no se dispone de suficientes datos sobre este problema en los recién nacidos. Se evaluaron los cambios en la vasculatura retiniana en una serie de 43 recién nacidos con CCC. Se los dividió en dos grupos según el tipo de CCC; grupo 1 (n= 18): CCC obstructiva izquierda y grupo 2 (n= 25): CCC obstructiva derecha. Se detectaron enfermedades vasculares retinianas en 21 pacientes (48,8%); estas fueron más frecuentes en el grupo 1 (p= 0,04). La patología más común fue la tortuosidad vascular retiniana, observada en seis pacientes (33,3%) del grupo 1 y en 4 (16,0%) del grupo 2. Ninguno de los 21 pacientes con cambios en la vasculatura de la retina requirió tratamiento durante el seguimiento. En un análisis multivariado, solo la CCC obstructiva izquierda estuvo asociada con el desarrollo de enfermedad vascular retiniana (P= 0,03, razón de probabilidades --#91;OR--#93;: 2,8, intervalo de confianza --#91;IC--#93; del 95%: 1,1-7,4). Los cambios vasculares retinianos son frecuentes en los recién nacidos con CCC.

Critical congenital heart disease (CCHD) may cause changes in retinal vasculature. However, there is lack of data in this issue in newborns. We evaluated retinovascular changes in a series of 43 newborn with CCHD. They were divided into 2 groups according to the type of CCHD; group 1 (n= 18): left obstructive CCHD and group 2 (n= 25): right obstructive CCHD. Retinovascular pathologies were detected in 21 patients (48.8%); it was more frequent in group 1 (p= 0.04). The most common pathology was retinal vascular tortuosity in 6 patients (33.3%) of group 1, and 4 (16.0%) in group 2. None of 21 patients with retinovascular changes required any therapy at follow-up. In multivariate analysis, only having a left obstructive CCHD was associated with the development of any retinovascular pathology (P= 0.03, OR: 2.8, CI95%: 1.1-7.4). Retinovascular changes are frequent in newborn patients with CCHD.

Retinovascular findings in newborns with critical congenital heart disease: A case series. / Signos vasculares retinianos en recién nacidos con cardiopatía congénita crítica: serie de casos.

Critical congenital heart disease (CCHD) may cause changes in retinal vasculature. However, there is lack of data in this issue in newborns. We evaluated retinovascular changes in a series of 43 newborn with CCHD. They were divided into 2 groups according to the type of CCHD; group 1 (n= 18): left obstructive CCHD and group 2 (n= 25): right obstructive CCHD. Retinovascular pathologies were detected in 21 patients (48.8%); it was more frequent in group 1 (p= 0.04). The most common pathology was retinal vascular tortuosity in 6 patients (33.3%) of group 1, and 4 (16.0%) in group 2. None of 21 patients with retinovascular changes required any therapy at follow-up. In multivariate analysis, only having a left obstructive CCHD was associated with the development of any retinovascular pathology (P= 0.03, OR: 2.8, CI95%: 1.1-7.4). Retinovascular changes are frequent in newborn patients with CCHD.

La cardiopatia congènita crítica (CCC) podría provocar cambios en la vasculatura de la retina. Sin embargo, no se dispone de suficientes datos sobre este problema en los recién nacidos. Se evaluaron los cambios en la vasculatura retiniana en una serie de 43 recién nacidos con CCC. Se los dividió en dos grupos según el tipo de CCC; grupo 1 (n= 18): CCC obstructiva izquierda y grupo 2 (n= 25): CCC obstructiva derecha. Se detectaron enfermedades vasculares retinianas en 21 pacientes (48,8%); estas fueron más frecuentes en el grupo 1 (p= 0,04). La patología más común fue la tortuosidad vascular retiniana, observada en seis pacientes (33,3%) del grupo 1 y en 4 (16,0%) del grupo 2. Ninguno de los 21 pacientes con cambios en la vasculatura de la retina requirió tratamiento durante el seguimiento. En un análisis multivariado, solo la CCC obstructiva izquierda estuvo asociada con el desarrollo de enfermedad vascular retiniana (P= 0,03, razón de probabilidades [OR]: 2,8, intervalo de confianza [IC] del 95%: 1,1-7,4). Los cambios vasculares retinianos son frecuentes en los recién nacidos con CCC.

Spontaneous echocardiographic contrast due to ductus venosus.

Spontaneous echocardiographic contrast is defined as a phenomenon of discrete reflections appearing in the cardiac chambers or great vessels. It has been associated with several conditions leading to microbubble formation or low blood flow. This is a report of a neonate with spontaneous echocardiographic contrast related to patent ductus venosus.

Symptomatic Fetal-Type Cardiac Rhabdomyoma.

Rhabdomyomas are the most common primary cardiac tumors, especially seen during early periods of childhood. Fetaltype rhabdomyoma is a benign tumor described almost always in extracardiac locations. Although the natural history of the cardiac rhabdomyoma is to regress, the behaviour of the fetal-type rhabdomyomas when present in the heart is unknown with respect to its infrequency. Herein, we report a hemodynamically unstable female neonate with a single large intra-cardiac mass unresponsive to medical treatment, who underwent surgery. The neonate could not survive the operation due to ventricular fibrillation. The mass was diagnosed as fetal-type cardiac rhabdomyoma on autopsy.

Cardiac MRI and 3D contrast-enhanced MR angiography in pediatric and young adult patients with Turner syndrome.

BACKGROUND/AIM: This study aimed to describe the spectrum and frequency of cardiovascular abnormalities in pediatric and young adult patients with Turner syndrome (TS) using cardiac MRI and MR angiography. MATERIALS AND METHODS: This prospective study consisted of 47 female patients of pediatric age and young adults with a karyotypically confirmed diagnosis of TS. All patients underwent cardiac MRI and contrast-enhanced MR angiography. A second examination after 9-26 months was performed for 28 of these patients. RESULTS: Elongation of the transverse aortic arch (ETA) was the most frequent abnormality with a rate of 37%. The rate of partial anomalous pulmonary venous connection (PAPVC) was 21.7%, bicuspid aortic valve (BAV) was 19.6%, coarctation was 6.5%, ascending aorta dilatation was 28.3%, and descending aorta dilatation was 15.2%. The diameters of the aorta and the rate of aortic dilatation per unit of time was greater in the patients with BAV (P < 0.05). ETA was less observed in the patients who were receiving growth hormone therapy (P < 0.05). CONCLUSION: The most common cardiovascular abnormalities in TS patients are aortic arch anomalies such as ETA and coarctation, aortic dilatation, PAPVCs, and BAV. The presence of BAV is an important risk factor for the aortic dilatation.

Persistent left superior vena cava accompanying congenital heart disease in children: Experience of a tertiary care center.

BACKGROUND: This study focuses on determining concomitant persistent left superior vena cava (SVC) in patients with congenital heart disease (CHD). METHODS: Between 2005 and 2012, a total of 2.663 patients with CHD, 88 (3.3%) of whom were diagnosed with persistent left SVC, were evaluated retrospectively. The demographic characteristics of patients, clinical and radiographic findings, echocardiography, cardiac catheterization, and angiography results obtained from the patients' records were reviewed. RESULTS: The median age of the patients was 9.5 months, and 46 of the 88 (52.3%) patients were female. The most common concomitant CHD were ventricular septal defect, double outlet right ventricle (DORV), and tetralogy of Fallot (TOF). When the patients were compared according to their CHD, persistent left SVC frequency was significantly higher in those with DORV (P<.001), TOF (P=.04), patent ductus arteriosus (P=.01), and atrial septal defect (P=.03). Eighty-three of the 88 (94.3%) patients with persistent left SVC had right SVC, and 5 (5.7%) had absence of the right SVC. Twenty-seven of the 83 (32.5%) patients with double SVC had connected normal innominate vein. In all cases, right aortic arch association was seen in 14 (15.9%) patients. Eighty-four (95.4%) of the patients were diagnosed by echocardiography prior to catheter angiography. Persistent left SVC drained to the coronary sinus in all cases. CONCLUSION: Increased awareness about the association of certain CHD with persistent left SVC and a careful echocardiographic examination can facilitate the diagnosis of persistent left SVC. In addition, precise prior diagnosis of persistent left SVC can prevent complications during surgery.

Aneurysm of the muscular septum associated with Wolf-Parkinson-White syndrome presenting as dilated cardiomyopathy; A report of two cases.

Muscular septal aneurysms are extremely rare without a ventricular septal defect and are diagnosed accidentally in most cases. Reported cases generally have rhythm disturbance or electrocardiographic findings of Wolf-Parkinson-White (WPW) syndrome. Presently described are 2 cases of ventricular septal aneurysm associated with WPW syndrome, which presented as dilated cardiomyopathy. Pre-excitation disappeared gradually in first patient. There was also concurrent decrease in degree of bulging of the interventricular septum and improvement of left ventricular systolic function. Second patient had complaints of palpitation and was referred for ablation of accessory pathway. Our findings suggest that presence of pre-excitation may lead to ventricular dyssynchrony and abnormal ventricular septal movement, resulting in appearance of aneurysm.

Hemophagocytosis in the Acute Phase of Fatal Kawasaki Disease in a 4 Month-Old Girl.

BACKGROUND: Kawasaki disease is a systemic vasculitis predominately affecting coronary arteries. Hemophagocytic lymphohistiocytosis can complicate the course of Kawasaki disease. Rare cases of secondary hemophagocytic lymphohistiocytosis occurring during the acute phase of Kawasaki disease have been reported. CASE REPORT: We report here a 4 month-old girl with diffuse coronary ectasia and secondary hemophagocytic lymphohistiocytosis occurring during the acute phase of incomplete Kawasaki disease. CONCLUSION: Due to the large overlap in clinical symptoms, the presence of atypical findings for Kawasaki disease should suggest the possible diagnosis of hemophagocytic lymphohistiocytosis in these patients.

A case with atrophic autoimmune thyroiditis-related hypothyroidism causing multisystem involvement in early childhood.

The most common reason of acquired hypothyroidism is autoimmune (Hashimoto) thyroiditis. Autoimmune thyroiditis can be atrophic or goitrogenic. Atrophic autoimmune thyroiditis (ATT) related acquired hypothyroidism causes interruption of growth, obesity, and bone age retardation in early ages while goitrogenic thyroiditis has a higher incidence rate and mostly presents with diffuse goiter. We discuss the effects of hypothyroidism on various systems through a case found to have pericardial effusion during the echocardiography performed after cardiac murmur was detected and later diagnosed with ATT related hypothyroidism.

A case of tracheal bronchus associated with right aortic arch and partial anomalous pulmonary venous connection.

Tracheal bronchus includes a variety of bronchial anomalies arising in the trachea or main bronchus and directed toward the upper-lobe territory. Reported incidence varies from 1-3% in the pediatric population. It is generally associated with other congenital malformations, including costovertebral anomalies, congenital airway and lung anomalies, vascular anomalies, and congenital heart defects. Presently described was the case of a 14-year-old female with tracheal right-upper-lobe bronchus, right aortic arch with mirror image, and abnormal left upper pulmonary venous return to innominate vein.

A rare association: inferior vena cava anomalies and congenital heart diseases.

The numerous variations of abnormalities of the inferior vena cava (IVC) result in anomalies such as isolated left IVC, double IVC and more than 60 types of malformation. These anomalies are rare and recognized incidentally during surgical or radiological procedures. They may lead to clinical complications during abdominal surgery, and predispose to venous thrombosis. Although they have no definite relationship to other congenital cardiac lesions, identification of these anomalies are important for pre-operative planning and post-operative follow-up. This report presents two cases of congenital IVC anomalies accompanied by congenital heart diseases.