Cardiomyopathy In Children Research Articles

Association of macrophage migration inhibitory factor - 173 G/C polymorphism with dilated cardiomyopathy in children

Objective The objective of this study was to detect the relation between macrophage migration inhibitory factor (MIF) −173 G/C gene polymorphism and dilated cardiomyopathy (DCM) in children. Background DCM is the most common cardiomyopathy. Myocardial inflammation is one of the commonest mechanisms in cardiomyopathy. MIF plays an important role in the control of innate immune responses and promotes proinflammatory biological activities; hence, MIF gene polymorphisms may predispose affected hosts to severe inflammatory or infectious disease. Patients and methods This study was conducted on 50 patients, 30 patients with DCM and 20 age-matched and sex-matched healthy controls. All patients were subjected to history taking, clinical examination, echocardiography, and laboratory measurement of serum sodium and uric acid. Patients and controls were subjected to PCR-restriction fragment length polymorphism to determine MIF 173 G/C polymorphism. Results Our study revealed a significant statistical difference in the distribution of the genotypes and allele frequencies between patients and controls. Studying the relation between different genotypes and echocardiographic parameters (ejection fraction, fractional shortening, left ventricular end-diastolic diameter and left ventricular end-systolic diameter) revealed a highly significant difference between different genotypes among patients. With regard to laboratory characteristics, there was a significantly higher serum sodium level in the CC genotype, while the uric acid level showed no significant difference between different genotypes among patients. Conclusion In our study, we conclude that the CC genotype of MIF gene may be a risk factor for cardiomyopathic patients and that the C allele is associated with severe clinical condition.

Idiopathic dilated cardiomyopathy in children: Prognostic indicators

Dilated cardiomyopathy (DCM) is a disorder featuring left ventricular dysfunction, heart failure, and a poor prognosis. The etiology is still unclear, despite diagnostic and therapeutic developments. This study was an evaluation of factors affecting the life span of a group of idiopathic DCM patients. A total of 79 patients from between October 2005 and October 2017 with a diagnosis of idiopathic DCM were evaluated retrospectively. Demographic characteristics, clinical information, left ventricular function, treatment, and follow-up of the patients were reviewed based on hospital records. Age, gender, parental consanguinity, cardiomegaly on telecardiography, reduced ejection fraction (EF) and shortening fraction (SF), degree of mitral regurgitation, and intracardiac thrombosis were determined to affect prognosis. The patients were aged 20+-60 months, and the male/female ratio was 1.02/1. The patients most frequently presented with heart failure signs and symptoms (n=59, 74.7%). The most common physical examination findings were a murmur (n=53, 67.1%) and tachycardia (n=48, 60.8%). Cardiomegaly was observed on telecardiography in 73.4% of the patients. The EF and SF values were 35.7+-12.6% and 17.3+-6.5%, respectively. In all, 42 (53.2%) patients had mitral regurgitation of grade 2 or higher. The duration of follow-up was between 1 and 156 months (20+-34.9 months). Intracardiac thrombosis was detected in 4 (5.1%) patients. The mortality rate was 36.7%. When the prognostic factors were compared according to survival time, it was determined that survival was reduced in cases of parental consanguinity, low EF, and cardiomegaly. The most important negative markers affecting the length of survival of DCM patients were parental consanguinity, cardiomegaly detected on telecardiography, and a reduced EF level.

Detection of cardiomyopathy in children with Marfan Syndrome with 2D strain echocardiography

Studies have found cardiomyopathy in adult patients with marfan syndrome (MS) with systolic dysfunction. Sophisticated techniques such as 2D strain echocardiography or “speckle tracking imaging” (STI) have been reported to detect early cardiac dysfunction and to be more accurately. The aim of our study was to evaluate the validity of STI for the study of myocardial function in children with MS, and to assess the interest for cardiomyopathy detection in this population. Echocardiographic parameters of left ventricular systolic function were compared between two populations in standard 2D, STI and cardiac MRI. We included 39 MS (clinically confirmed from the 2010 modified criteria of Ghent or genetically with mutations on the FBN1 gene) and 41 healthy children, aged 4 to 18 years old (respectively mean ± age SD 12.07 ± 4.81 and 11.82 ± 3.64). They were paired on the body surface. The values of global strain longitudinal peak (SLG) of MS were compared with values of ejection fraction of the left ventricle (LVEF) assessed by cardiac MRI (gold standard). Relations between the two types of mutations (PTC and inframe) in SM and altered strain were studied. Impaired SLG was significant for 7 segments: basal inferoseptal ( P = 0.0001), mid anterolateral ( P = 0.0083), basal anterolateral ( P < 0.0001), basal inferior ( P = 0.0057), apical lateral ( P = 0.0084), basal anterior ( P < 0.0001) and basal inferolateral ( P = 0.0103). This segmental impairment predominated the basal level with apex-to-base gradient. Patients with more altered SLG appeared to have a greater dilatation of the ascending aorta ( P = 0.03). This study is the largest pediatric cohort who compare 2D strain echocardiography and MRI in children with SM. The interest for primary or secondary cardiomyopathy detection remains to be validated and consolidated with larger studies and could justify not only to focus on the aorta.

Dilated Cardiomyopathy in Children at Saiful Anwar General Hospital

Background: Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilatation and decreased systolic function. The cause of DCM is multifactorial. Although most cases are idiopathic, nowadays secondary dilated cardiomyopathy due to systemic disease such as collagen disease, severe infection or after anthracycline administration.

Perioperative management of paraganglioma and catecholamine-induced cardiomyopathy in child\u2013 a case report and review of the literature

BackgroundParagangliomas are catecholamine-secreting tumors of the paraganglia. Perioperative mortality of children with paraganglioma is high, but preoperative therapy and anesthetic management of paraganglioma resection are controversial in children. The literatures on catecholamine-induced cardiomyopathy are limited to several case reports,with few reports of studies on children.Case presentationHere we report the anesthetic management of a child with paraganglioma and catecholamine-induced cardiomyopathy, and the possible perioperative anesthesia problems of the paraganglioma resection are discussed.ConclusionPreoperative and intraoperative anesthetic management of Pheochromocytomas children should follow the same principles as for adults, The most important aspects are the control of blood pressure liability and maintenance of adequate blood volume. Pheochromocytomas patient may have cardiomoyopathy due to myocardial toxicity of excessive circulating catecholamines level. The perioperative management of catecholamine-induced cardiomyopathy should include lowering sympathetic activation by means of α-and β-adrenergic receptor blocker and diuretics administration in case of volume overload.

Natural history of idiopathic ventricular arrhythmias in children

Idiopathic ventricular arrhythmia in children is usually benign. Ventricular ectopy in children usually is an incidental finding. Prevalence varies with age: neonates nearly 20%, school age 10%, teenagers 20-30%. During natural history total or partial disappearance of idiopathic ventricular ectopy, spontaneously or after treatment was described in about 23% children with premature ventricular beats, 28% with pairs and 65% with ventricular tachycardia. Arrhythmia more often resolves in infants than in older children, more often in arrhythmia with right than left bundle branch block morphology. Idiopathic ventricular tachycardia or frequent ventricular ectopic beats may in small percentage of pediatric patients lead to ventricular dysfunction, but risk factors of this arrhythmic cardiomyopathy in children are not established. Catheter ablation is recommended in children with ventricular dysfunction or hemodynamic compromise presumed to be due to ventricular arrhythmia, as primary therapy or in patients with arrhythmia not controlled medically

Multicenter investigation of the correlation between supraventricular tachycardia and tachycardia-induced cardiomyopathy in children

Objective: This study aimed to investigate the correlation between supraventricular tachycardia (SVT) and tachycardia-induced cardiomyopathy(TIC) in children and assess the risk factors for the development of TIC. Method: One hundred and eighty-three patients were recruited in four hospitals of Beijing diagnosed as SVT were divided into two groups depending on whether or not complicated with TIC. The age, gender, tachycardia type, ventricular rate during tachycardia, frequency of tachycardia episodes and duration of tachycardia were compared between the two groups and risk factors associated with TIC were analyzed. Statistical analyses were performed using t test, Mann-Whitney U and χ(2) test. Result: Totally 183 patients were included in this study (paroxysmal supraventricular tachycardia, PSVT, n=149; atrial tachycardia, AT, n=34). The incidence of TIC was 13.1%. There was significant difference regarding the incidence of TIC between children with AT and children with PSVT (26.5% vs. 10.1%, χ(2)=6.537, P=0.011). The percentage of AT in patients with TIC was significantly higher than patients without TIC (37.5% vs. 15.7%, χ(2)=6.537, P=0.011). Patients with TIC had a higher frequency of tachycardia episodes(2.5(1.0-4.8) beats/year vs 4.0(1.0-10.0) beats/year, Z=-2.223, P=0.026)and longer duration of tachycardia(11.0(1.1-36.0) h vs 2.5(1.0-12.0) h, Z=-2.154, P=0.031)compared with patients without TIC. Multivariate predictors of TIC was longer duration of tachycardia (OR=2.041, P=0.028). Conclusion: TIC occurs in 13.1% of children with SVT. The incidence of TIC in children with AT is higher than in children with PSVT. Risk factor for the development of TIC is longer duration of tachycardia.

PCV2-26 - Detection of cardiomyopathy in children with Marfan Syndrome with 2D strain echocardiography

PCV2-26 - Detection of cardiomyopathy in children with Marfan Syndrome with 2D strain echocardiography

THE NEW GENOME VARIANTS IN RUSSIAN CHILDREN WITH GENETICALLY DETERMINED CARDIOMYOPATHIES REVEALED WITH MASSIVE PARALLEL SEQUENCING

Background: Cardiomyopathies in children are serious, continuously progressing myocardium diseases which are characterized by a variety of the causes, symptoms, implications, and high lethality. More than 400 genes that can cause hereditary heart and vessels diseases are described in scientific literature. The application of a high-performance method of massive parallel sequencing allows to conduct the investigation of genome extended targeted areas revealing the variants and analyzing them (bioinformatics) for pathogenicity.Aims: Identification of a genetic etiology of hereditary cardiomyopathies development in children’s population of the Russian Federation.Materials and methods: The research included 103 patients with various phenotypes of cardiomyopathies aged from 3 months up to 17 years 9 months who at the moment of examination were observed in the cardiology department and the department of recovery treatment with cardiovascular diseases in the NMRCCH. All patients were performed massive parallel sequencing analyzing the targeted areas of 404 genes which mutations lead to the development of heart and vessels hereditary diseases.Results: The diagnostic algorithm based on the method of a massive parallel sequencing was developed. 176 258 minor options were identified in the explored target areas of genome of 103 patients. An average number of the revealed nucleotide replacements different from the reference sequence was 1711. We observed that about 40% of all variants founded by our means were found in MYH7, MYBPC3, TTN, MYH6, SCN5A, DSC2 and TPM1 genes. Bioinformatics analysis allowed revealing 68 novel genome variants associated with cardiomyopathy development. The reliable association of carriage of pathogenic option in MYBPC3 gene with development of hypertrophic cardiomyopathy in the Russian children was found.Conclusions: The application of the offered algorithm allowed establishing laboratory diagnoses to 99 (96.1%) patients out from 103 investigated subjects including the syndromal and non-syndromal forms of heart and vessels hereditary diseases which showed a cardiomyopathy phenotype.

P709Outcome predictors of dilated cardiomyopathy in childhood

P709Outcome predictors of dilated cardiomyopathy in childhood

Abstract 484: Mir-19b-3p Regulates Autophagy by Targeting Raf-1 During Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a heterogenous disease predominantly caused by sarcomeric genes. However, 40-50% cases etiology are not known. RAF1 mutations cause syndromic and isolated childhood cardiomyopathies. Functional mutations in untranslated regions (UTRs) of RAF-1 gene are rare, and their role in cardiomyopathy is unexplored. UTRs are important sites for interaction of epigenetic regulators such as microRNAs (miR). miRs have exhibited as crucial regulators of the cardiac remodeling process. We identified a novel mutation in RAF-1 3’-UTR (an important site for binding of miR-19a-3p/19b-3p) in large family members associated with HCM. Whole exome sequencing revealed that these family members are negative for mutations in known cardiomyopathy associated genes. miR-19a/b are known to play a crucial role in cardiac hypertrophy. The aim of this study is to determine the role of miR-19a-3p/19b-3p in regulating RAF-1 expression and delineating the molecular and functional consequences of identified RAF-1 3’-UTR mutation. Our results show that the overexpression of miR-19b-3p, leads to downregulation of RAF-1 expression and regulation. Notably, miR-19b-3p was found to be pro-hypertrophic as its overexpression resulted in increasing hypertrophic markers including ANP and β-MHC expression. Moreover, findings from experiments using RAF1 +/+ and RAF1 -/- mouse embryo fibroblasts (MEFs) confirms the role of miR-19b-3p interaction and regulation of RAF-1 signaling axis. Interestingly, we also observed many autophagy markers (Atg3, Atg 12-5 complex, and LC3 II) are dysregulated by miR-19-b-3p overexpression. Our study uncovers a novel mechanism through which miR-19b-3p regulates autophagy by targeting RAF-1.

Hypertrophic cardiomyopathy in children.

Hypertrophic cardiomyopathy (HCM) occurs in 1 of 500 adults and is considered to be one of the most common causes of death in young people under 35 years of age. Children with HCM are usually asymptomatic and the overall annual mortality beyond the first year of life is 1%. Septal myectomy is safe and effective in children with obstructive HCM and published data shows improved late survival compared to untreated HCM. Patient selection and surgical expertise remain critical components to ensuring successful outcomes of septal myectomy, particularly when considering prophylactic myectomy in a seemingly asymptomatic patient.

Midterm postoperative follow-up after surgical correction of hypertrophic cardiomyopathy in infancy and childhood

BackgroundSurgical septal myectomy has been considered the gold-standard therapeutic option for symptomatic drug refractory patients with hypertrophic obstructive cardiomyopathy (HOCM) for over 50 years. However, it is being challenged by less- invasive interventional tools in the last 2 decades. The late effects of myocardial scar from alcohol septal ablation are unknown and, therefore, are not recommended in children and young adults. MethodsA total of 9 patients underwent surgical interventions for HOCM. All patients were below 12 years of age. The patients were operated upon in Cairo University Hospitals, Egypt; in the period between April 2014 and February 2016. Pre-operative and operative data were collected and analyzed statistically. Post-operative evaluation was documented at different periods and data collected and analyzed in comparison with pre-operative data as well as at these different follow up periods. ResultsMean age of all patients was 6.1 ± 2.6 years. 77.8% were males. All the patients were symptomatic. Preoperative mean pressure gradient (PG) was 95.4 ± 15.2 mmHg. Mean septal wall thickness (SWT) was 1.52 + 0.45 cm, mean degree of mitral regurge (MR) was 1.7 ± 0.83. Immediate postoperative assessment showed significant clinical improvement and significant reduction of PG to 20.0 ± 14 mmHg, SWT to 0.98 ± 0.38 cm, and mean degree of MR to 0.89 ± 0.33. Short-term and mid-term follow up showed sustained improvement. There were no deaths. ConclusionsSurgical procedures for HOCM are generally safe and effective for improvement of symptoms, LVOT gradient, mitral regurge. Early surgical intervention is advocated to prevent progression of valve disease.

Cardiotoxicity and cardiomyopathy in children and young adult survivors of hematopoietic stem cell transplant.

Cardiomyopathy is common in long-term survivors of pediatric hematopoietic stem cell transplant (HSCT). Events occurring before and after HSCT when combined with specific insults during HSCT likely contribute to long-term risk. Strategies for detecting subclinical cardiomyopathy prior to patients developing overt heart failure are under investigation. Changes in HSCT preparative regimens and cardioprotective medications administered during chemotherapy may alter the risk for cardiomyopathy. Interventions in long-term survivors such as lifestyle modification and cardioactive medications are of increasing importance. Herein we review the causes of cardiac injury, discuss strategies for detection of cardiomyopathy, and evaluate therapeutic options for long-term HSCT survivors.

Plasma exchange for the patients with dilated cardiomyopathy in children is safe and effective in improving both cardiac function and daily activities.

Autoantibodies against cardiac proteins play an important role in the development of dilated cardiomyopathy (DCM). The efficacy and safety of apheresis such as immunoadsorption (IA) or plasma exchange (PE) to remove such antibodies have been reported in adult DCM patients. However, apheresis for pediatric DCM has not been performed because of technical difficulty due to relatively low blood volume and instability of hemodynamics. As we have experiences of preforming apheresis on hemodynamically unstable children, we have preformed ten courses of PE on seven child DCM patients including both patients in chronic and acute phase to assess the safety and efficacy to PE. Under general anesthesia, the patients were administered PE three times during 3 days as 1 course. Simultaneously, continuous hemodiafiltration (CHDF) was performed in series with the PE circuit to stabilize hemodynamic status and to minimize the adverse effects of PE. The changes in LVEF, CTR, mBP, the dosage of furosemide and NYHA were assessed before and after the procedure of PE. There were no severe adverse effects such as systemic bleeding or refractory hypotension due to apheresis. Echocardiography showed that mean baseline LVEF was 24.3 ± 7.8%. Mean LVEF significantly increased 1 week after PE to 30.5 ± 12.5%. CTR significantly decreased after PE. Mean BP significantly increased 1 month after PE (54.5 ± 10.7 to 60.7 ± 9.8mmHg). NYHA improved after PE significantly (NYHA; 3.4 ± 1.1 to 2.5 ± 1.1). PE is safe and effective in improving both cardiac function and daily activities.

Anesthesia and Sudden Onset Cardiomyopathies in Children

Purpose of Review Anesthesiologists are often asked to provide anesthesia or sedation for previously healthy children with newly diagnosed cardiomyopathies. A thorough understanding of the disease process, diagnostic work up, and potential complications is important for safe anesthetic management. This article discusses the different classification systems, diagnostic tests, recent outcomes, and specific anesthetic considerations for children with sudden onset cardiomyopathies.

Parent reports of health-related quality of life and heart failure severity score independently predict outcome in children with dilated cardiomyopathy.

Dilated cardiomyopathy in children causes heart failure and has a poor prognosis. Health-related quality of life in this patient group is unknown. Moreover, results may provide detailed information of parents' sense of their child's functioning. We hypothesised that health-related quality of life, as rated by parents, and the paediatric heart failure score, as assessed by physicians, have both predictive value on outcome. Methods and results In this prospective study, health-related quality of life was assessed by parent reports: the Infant Toddler Quality of Life questionnaire (0-4 years) or Child Health Questionnaire-Parent Form 50 (4-18 years) at 3-6-month intervals. We included 90 children (median age 3.8 years, interquartile range (IQR) 0.9-12.3) whose parents completed 515 questionnaires. At the same visit, physicians completed the New York University Pediatric Heart Failure Index. Compared with Dutch normative data, quality of life was severely impaired at diagnosis (0-4 years: 7/10 subscales and 4-18 years: 8/11 subscales) and ⩾1 year after diagnosis (3/10 and 6/11 subscales). Older children were more impaired (p<0.05). After a median follow-up of 3 years (IQR 2-4), 15 patients underwent transplantation. Using multivariable time-dependent Cox regression, "physical functioning" subscale and the Heart Failure Index were independently predictive of the risk of death and heart transplantation (hazard ratio 1.24 per 10% decrease of predicted, 95% confidence interval (CI) 1.06-1.47 and hazard ratio 1.38 per unit, 95% CI 1.19-1.61, respectively). Physical impairment rated by parents and heart failure severity assessed by physicians independently predicted the risk of death or heart transplantation in children with dilated cardiomyopathy.

Neonatal dilated cardiomyopathy

Cardiomyopathies are rare diseases of the heart muscle, of multiple causes, that manifest with various structural and functional phenotypes but are invariably associated with cardiac dysfunction. Dilated cardiomyopathy is the commonest cardiomyopathy in children, and the majority present before one year of age. Its etiology may be acquired or genetic. Myocarditis is an important cause and is responsible for the majority of acquired cases. Inherited (familial) forms of dilated cardiomyopathy may occur in 25-50% of patients. Echocardiographic and tissue Doppler studies are the basis for diagnosis of dilated cardiomyopathy in most patients. Marked dilatation of the left ventricle with global hypokinesis is the hallmark of the disease. This review will cover the classification, epidemiology and management of newborns with dilated cardiomyopathy. In particular, a comprehensive and up-to-date review of the genetic study of dilated cardiomyopathy and of detailed echocardiographic assessment of these patients will be presented.

LONG-TERM OUTCOMES OF CHILDHOOD LEFT VENTRICULAR NON-COMPACTION: RESULTS FROM A NATIONAL POPULATION-BASED STUDY

Introduction: Long-term outcomes for childhood left ventricular non-compaction (LVNC) are uncertain. We examined this question as part of a national population-based study. Methods: The National Australian Childhood Cardiomyopathy Study includes all children in Australia diagnosed with primary

Neonatal dilated cardiomyopathy

Cardiomyopathies are rare diseases of the heart muscle, of multiple causes, that manifest with various structural and functional phenotypes but are invariably associated with cardiac dysfunction. Dilated cardiomyopathy is the commonest cardiomyopathy in children, and the majority present before one year of age. Its etiology may be acquired or genetic. Myocarditis is an important cause and is responsible for the majority of acquired cases. Inherited (familial) forms of dilated cardiomyopathy may occur in 25-50% of patients. Echocardiographic and tissue Doppler studies are the basis for diagnosis of dilated cardiomyopathy in most patients. Marked dilatation of the left ventricle with global hypokinesis is the hallmark of the disease. This review will cover the classification, epidemiology and management of newborns with dilated cardiomyopathy. In particular, a comprehensive and up-to-date review of the genetic study of dilated cardiomyopathy and of detailed echocardiographic assessment of these patients will be presented.