Clinical manifestation and outcomes of children with hypertrophic cardiomyopathy in Kosovo.

BACKGROUND AND OBJECTIVES: Identification of the manifestations, assessment and follow up of children with hypertrophic cardiomyopathy (HCM) by transthoracic echocardiography may be important for clinical management and our understanding of pathogenesis. METHODS: We present a comprehensive analysis of 43 children seen in Kosovo, 23 were male, aged between 4 months and 9 years at first presentation (median of 2 years and 3 months). RESULTS: Cardiac failure, seen in almost half of them, was the most common presenting feature. At admission, the chest x-ray revealed an increased cardiothoracic ratio, to a mean of 72% in 6 infants and to 65% in 37 older children. Measured by transthoracic echocardiography, 28 children had asymmetric hypertrophy of left ventricle while 15 had concentric hypertrophy. Left ventricular ejection fraction was depressed in 21 children. Patients with cardiac failure received various combinations of diuretics, B-blockers, ACE inhibitors and anticoagulant therapy (aspirin). Death occurred in 8 children, in 4 of them shortly after admission, the other 4 left Kosovo and continued examination and treatment abroad Kosovo; their death has been confirmed by family members. The remaining 32 were followed- up for a mean 42 months, with a range from 5 to 115 months. Surgical intervention was not performed to any of them, despite the clinical and echocardiography indications due to a limitation of resources. Recovery was noted in 14 children but still requiring anti-heart failure medications. Slightly over two-fifths died. Of those with asymmetric form, 45% died, half of those presenting in infancy, and 89% of those who presented at admission with signs of cardiac failure. CONCLUSION: The results of our study show that similar to many centers, the etiology of HCM is often uncertain. In the absence of etiology, treatment aimed at the cause is either impossible or, at best, empirical.

Giant Apical Left Ventricular Diverticulum in a Health Teenager - Report of a Case within the Context of a Literature Review.

INTRODUCTION: Congenital left ventricular diverticulum appears to be a developmental anomaly, an idiopathic dysplasia of left ventricular endocardium and myocardium. No evidence of a viral aetiology was found. AIM: We have reviewed the relevant medical literature, outlined the natural history of these left ventricular abnormalities, and discussed options in regard to their management. RESULTS: The prognosis of LV outpouchings can vary from benign to catastrophic, depending upon the underlying cause. Accurate diagnosis is required to guide management decisions. High-quality imaging will characterize LV outpouchings well, helping clinicians to better understand the natural history of these conditions and to manage them appropriately. CONCLUSION: We believe that diverticulum can be detected on ECHO when it is performed precisely and carefully. In advanced centers selective computed tomography and LV angiography can be used in some cases to clearly demonstrate the outlet, size, and location of the diverticulum without the need for cardiac tomography or an MRI.

The Diagnostic and Clinical Approach to Pediatric Myocarditis: A Review of the Current Literature.

Myocarditis is an inflammatory disease of the myocardium with a broad spectrum of clinical presentations, ranging from mild symptoms to severe heart failure. The course of patients with myocarditis is heterogeneous, varying from partial or full clinical recovery in a few days to advanced low cardiac output syndrome requiring mechanical circulatory support or heart transplantation. Myocarditis is a very heterogeneous disease, especially in the pediatric age group as worldwide disease myocarditis has been defined by the World Health Organization/International Society and Federation of Cardiology as an inflammatory disease of the heart muscle diagnosed by established histological, immunologic, and immunohistological criteria. Pediatric myocarditis remains challenging from the perspectives of diagnosis and management. Multiple etiologies exist, and the majority of cases appear to be related to viral illnesses. Enteroviruses are believed to be the most common cause, although cases related to adenovirus may be more frequent than suspected. The clinical presentation is extremely varied, ranging from asymptomatic to sudden unexpected death. A high index of suspicion is crucial. There is emerging evidence to support investigations such as serum N-terminal B-type natriuretic peptide levels, as well as cardiac magnetic resonance imaging as adjuncts to the clinical diagnosis. In the future, these may reduce the necessity for invasive methods, such as endomyocardial biopsy, which remain the gold standard. Management generally includes supportive care, consisting of cardiac failure medical management, with the potential for mechanical support and cardiac transplantation. Treatments aimed at immunosuppression remain controversial. The paediatrics literature is extremely limited with no conclusive evidence to support or refute these strategies. All these summarised in this article and the listed current literature showed that there is no consensus regarding aetiology, clinical presentation, diagnosis, and management of myocarditis in pediatric patients.

An Infant With Neonatal Diabetes and Double Outlet Right Ventricle - Wolcott- Rallison syndrome.

INTRODUCTION: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Cardiovascular system is very rarely affected and there are a limited number of publications where WRS is associated with congenital heart disease. The aim of this interesting case is to report an infant with Wolcott - Rallison syndrome, type I diabetes mellitus, and complex congenital heart disease, diagnosed in a pre term neonate. CASE REPORT: A case of preterm neonate who presented immediately after delivery with hyperglycemia and heart murmur. Clinical and laboratory investigation showed diabetes mellitus type I and double outlet right ventricle. Genetic examination showed classic mutations in the EIF2AK3 gene - eukaryotic translation initiation factor 2α kinase 3. Conclusion: Diabetes in neonatal age raises doubts about the possibility of association with the syndrome and other diseases.

A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome.

INTRODUCTION: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. CASE REPORT: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group.

Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience.

BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient's haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

Kosovo's Experience for Children with Feeding Difficulties after Cardiac Surgery for Congenital Heart Defect.

BACKGROUND: A feeding disorder in infancy and during childhood is a complex condition involving different symptoms such as food refusal and faddiest, both leading to a decreased food intake. AIM: We aimed to assess the prevalence and predictor factors of feeding difficulties in children who underwent cardiac open heart surgery in neonatal period and infancy. We address selected nutritional and caloric requirements for children after cardiac surgery and explore nutritional interdependence with other system functions. METHODS: This was a retrospective study in a tertiary referral hospital, and prior approval from the institutional ethics committee was obtained. Information for 78 children (42 male and 36 female) was taken from patients charts. Data were analysed with descriptive statistics and logistic regression. RESULTS: From a cohort of analysed children with feeding problems we have occurred in 23% of such cases. At the time of the study, refusal to eat or poor appetite was reported as a significant problem in 19 children and subnormal height and weight were recorded in 11 children. Early neonatal intervention and reoperation were identified as risk factors for latter feeding difficulties or inadequate intake. Children with feeding problems also tended to eat less than children without feeding problems. There was a trend towards more feeding problems in patients with chromosomal abnormalities or other associated anomalies. CONCLUSION: Feeding disorder is often and a frequent long-term sequel in children after neonatal or early infancy heart surgery. Patients with chromosomal and associated anomalies who underwent multiple cardiac surgeries are at risk of developing feeding difficulties.

Compare Of the West Syndrome with Other Syndromes in the Epileptic Encephalopathy - Kosovo Experience.

BACKGROUND: West Syndrome (WS) represents as a specific epileptic encephalopathy characterised with a unique type of attacks, called infantile spasms, severe forms of abnormalities in electroencephalographic (EEG) records as a hypsarythmias and delays in the psychomotoric development. The characteristics of the disease, mostly affecting male gender, are infantile spasms and typical findings in EEG as a hypsarythmia. Infantile spasms are a consequence of many factors in the undeveloped brain. AIM: We aimed: (1) to see the incidence of the illness and the spreading out because of gender in rapport with other syndromes in the epileptic encephalopathies group; (2) to show principles of the treatment for the illness; and (3) to present the effects of the disease in the psycho-motoric development of affected children. METHODS: The study was designed as a cross-sectional study of the patients with epileptic encephalopathies, treated in Paediatric Clinic in Prishtina, from 1st of January 2013 until the 31st of December 2015. RESULTS: From the cohort group of 97 children diagnosed with epileptic encephalopathies, in 14 of them clinical and EEG signs of WS were noted. The earliest age of disease manifestation was 74 days (± 63.8 days). On the group of children with WS, 13 of them with Natrium Valpropat were treated, with the doses of 301.9 mg (± 64.1). From the cohort group, in 89 children (91.8%) psychomotoric retardation was documented, within the higher reoccurrence in the undifferentiated epileptic encephalopathies (96%) and the WS (78.6%). CONCLUSION: WS is a frequent disease of the encephalopathies with the epileptogenic framework. The resistance in anticonvulsive therapy is huge, and psychomotoric retardation follows a big percentage of children with this syndrome.

Echocardiography as a Predicting Method in Diagnosis, Evaluation and Assessment of Children with Subvalvar Aortic Stenosis.

BACKGROUND: Obstruction to the left ventricular outflow of the heart may be above the aortic valve (5%), at the valve (74%), or in the subvalvar region (23%). These anomalies represent 3 to 6% of all patients with congenital heart defects (CHD), and it occurs more often in males (male-female ratio of 4:1). AIM: The purpose of this study was to determine the sensitivity and specificity of transthoracic echocardiography in diagnosis of discrete subaortic membrane, to determine convenient time for surgical intervention, and for identifying involvement of the aortic valve by subaortic shelf. MATERIAL AND METHODS: A retrospective review of the medical records and echocardiograms of 18 patients [14 male (77%) and 4 female (23%)] with discrete subaortic membrane, aged 11 month to 12 years, with mean age of 5 years and 3 month, diagnosed at the Pediatric Clinic in Prishtina, during the period September, 1999 and December, 2010 were done. RESULTS: Four patients, in neonatal age were operated from critical coarctation of the aorta and, initial signs of congestive heart failure were presented. 2 of them were operated in Belgrade, Serbia and 2 in Lausanne, Switzerland. CONCLUSION: In all presented patients bicuspid aortic valve was noted, but none of them subaortic membrane was registered.

Heart lesion after the first attack of the rheumatic Fever 22 years experience in single centre.

BACKGROUND: Acute rheumatic fever and its sequels, rheumatic heart diseases, remain major unsolved preventable health problems in Kosovo population, particularly among the disadvantages indigenous Albanian and Egyptians people. In Kosovo, despite of performing secondary prophylaxis with benzathine penicillin, acute rheumatic fever hospitalization rates have remained essentially unchanged for the last 20 years. The role of echocardiography in the diagnosis of acute rheumatic carditis was established over the last 20 years. AIMS: In this study we aimed to determine the prevalence of rheumatic heart disease in children from Kosovo population with first attack of acute rheumatic fever. Also, we presented that echocardiography examination detects a greater prevalence of rheumatic heart disease than other diagnostic procedures. We aimed to compare the sensitivity and specificity of cardiac auscultation, ECG record, lab analysis to echocardiography and to determine the feasibility of specific age in this setting. METHODS: To optimize accurate diagnosis of rheumatic fever and rheumatic heart disease, we utilized two group models. In the first group of 388 children, hospitalized and treated before 1999, diagnosis of rheumatic fever was decided basing on the clinical and laboratory findings whereas in second group (221 children treated from1999 to 2010) clinical and lab diagnosis were amplified also on the detection by echocardiography. CONCLUSION: In second group, using echocardiography as a method of diagnosis and assessment children with rheumatic fever, we found high rates of undetected rheumatic heart disease in this high-risk group population. Echocardiographic examination of children with rheumatic fever for rheumatic heart disease may over diagnose rheumatic heart disease unless congenital mitral valve anomalies and physiological regurgitation are excluded.

Klippel - Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature.

First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. Since first classification from Feil in three categories (I - III) other classification systems have been advocated to describe the anomalies, predict the potential problems, and guide treatment decisions. Patients with Klippel-Feil syndrome usually present with the disease during childhood, but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis.

Treatment of children with protein - losing enteropathy after fontan and other complex congenital heart disease procedures in condition with limited human and technical resources.

BACKGROUND: Protein-losing enteropathy (PLE) is a disorder characterized by abnormal and often profound enteric protein loss. It's relatively uncommon complication of Fontan and other complex congenital heart disease (CCHD) procedures. Because of the complexity and rarity of this disease process, the pathogenesis and pathophysiology of protein-losing enteropathy remain poorly understood, and attempts at treatment seldom yield long-term success. AIM OF PRESENTATION: is to describe single centre experience in diagnosis, evaluation, management and treatment of children with protein-losing enteropathy after Fontan and other CCHD procedures in the current era and in centre with limited human and technical resources, follows with a comprehensive review of protein-losing enteropathy publications, and concludes with suggestions for prevention and treatment. MATERIAL AND METHODOLOGY: Retrospectively we analyzed patients with CCHD and protein-losing enteropathy in our institution, starting from January 2000 to December 2012. The including criteria were age between two and 17 years, to have a complex congenital heart disease and available complete documentation of cardiac surgery under cardiopulmonary bypass. RESULTS: Of all patients we evaluated 18 cases with protein-losing enteropathy, aged 6 to 19 years (mean 14±9); there were three children who had undergone screening procedure for D-transposition, one Tetralogy of Fallot, and remaining 14 patients had undergone Fontan procedures; (anatomic diagnosis are: six with tricuspid atresia, seven with d-transposition, double outlet right ventricle and pulmonary atresia and two with hypoplastic left heart syndrome). The diagnosis of protein-losing enteropathy was made at median age of 5.6 years, ranging from 13 months to 15 years. Diagnosis was made using alpha 1-antitrypsin as a gold marker in stool. By physical examination in 14 patients edema was found, in three ascites, and six patients had pleural effusion. Laboratory findings at the time of diagnosis are: abnormal enteric protein loss was documented at the time of diagnosis in all 18 patients. At the time of diagnosis all patients receiving some form of anticoagulation, 17 patients receiving other medication: 17 - diuretics and ACE inhibitors, 12 digoxin, 9 antiarrhytmics. Cross-sectional echocardiography was performed for all patients and different abnormalities were registered. In 14 patients also magnetic resonance was performed. Therapeutic approach was based on the non-specific medication (diet, diuretics, digoxin, ACE inhibitors, and anticoagulants), heparin and corticosteroids therapy. Long-term response to this type of therapy was registered in three patients. Nine patients underwent treatment with heparin and corticosteroids and no one experienced long term benefit. Despite of needs for catheter therapy or surgical intervention in our study, in the absent of technical and human resources now any one had underwent those procedures. Six patients has been transferred abroad and in five of them surgical intervention was perform. CONCLUSION: Protein-losing enteropathy remains a devastating complication of Fontan procedure and despite in advantages in surgical and medical therapy there is no evidence that protein-losing enteropathy is less common in the current area.

Klippel-Feil syndrome associated with atrial septal defect.

INTRODUCTION: Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. The etiology of Klippel-Feil syndrome and its associated conditions is unknown. The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, anomalies of the extremities etc. Associated anomalies occur in the auditory system, neural axis, cardiovascular system, and the musculoskeletal system. RESULTS AND DISCUSSION: Cardiovascular anomalies, mainly septal defects, were found in 7 patients in Hensinger's series, with 4 of these individuals requiring corrective surgery. In our case we have had registered a nonrestrictive atrial septal defect and corrective surgical intervention at age 18 months in the Santa Rosa Children's Hospital (USA) has been done successfully. Careful examinations of specialist exclude anomalies in other organs and systems. Radiographs and MRI of the thoracic and lumbosacral spine are obtained and other anomalies have been excluded.

Hypertrophic Cardiomyopathy Associated with Mid-cavity Obstruction and High Left Intraventricular Pressure.

We report a case of a child, with a rare form of the idiopathic hypertrophic cardiomyopathy, associated with mid-cavity obstruction and high intraventricular peak pressure. Cardiomyopathy, diagnosed antenataly, was followed postnataly and, despite of a lot echocardiographic findings - the growing, development and clinical signs are minimal.

Echocardiographic measurements of normal fetal pulmonary artery and pulmonary branches and comparison on fetuses with congenital diaphragmatic hernia.

OBJECTIVE: Congenital diaphragmatic hernia is one of the severe congenital pulmonary anomaly (PA) associated with pulmonary hypoplasia, pulmonary sequestration and severe respiratory distress. The aim of this study was to present difference between measurements of the size of fetal pulmonary artery and pulmonary branches (PB) in normal growth fetuses and comparison with the same in fetuses with congenital diaphragmatic hernia (CHD). Measurements were done by echocardiography. METHODOLOGY: During the period March 2007 to March 2009 measurements were performed on a total of 115 normal fetuses, at 20-38 weeks gestation. By cross-sectional echocardiography were measured fetal PA and PB diameters. Retrospectively were reviewed 6 fetuses with left-sided CHD from 2005 to 2009. Measurements were done at level of the three vessel view (superior vena cava, ascending aorta and main PA). RESULTS: Diameter of main PA and both branches were found to correlate with the advanced gestational age (r = 0.74, p < 0.01). There was calculated diameter of the left PB to main pulmonary artery ratio (LPB/MPA) and right PB to main pulmonary artery (RPB/MPA) ratio. These two parameters were almost constant throughout gestation. In all fetuses with CDH, LPB was normal or smaller than in normal fetuses. Both PB in compare with PMA were within the normal range in all normal fetuses. CONCLUSION: Echocardiographic measurement of PB is an important method to establish the normal range of diameters of the PA branches and it appears to be useful to compare results on normal fetuses and fetuses with CDH and pulmonary hypoplasia.

Echocardiographic diagnosis of divided right atrium-cor triatriatum dextrum.

First reported in 1868, cor triatriatum, that is, a heart with 3 atria (triatrial heart), is a congenital anomaly in which the left atrium (cor triatriatum sinistrum) or right atrium (cor triatriatum dextrum) is divided into two parts by a fold of tissue, a membrane, or a fibromuscular band. As far as division of the morphologically left atrium (cor triatriatum) is a recognized clinical and surgical entity. Division of the right atrium (prominence of the eustachian and thebesian valves) is recognized pathologically, but is rare. A partition division the right atrium was attached to the orifice of the inferior caval vei. The dividing partition is placed between the systemic venous sinus and the distal part of the right atrium, made up of the vestibule and appendage. This report describes a case of a divided right atrium, associated with a large atrial septal defect and valvular pulmonary stenosis.