Prevalence and Pattern of Congenital Heart Disease in Uttarakhand, India

Objective

To find the prevalence and pattern of congenital heart disease (CHD) at a tertiary care hospital in Uttarakhand, India.

Methods

A thorough history and clinical examination was done for all the live births and children up to 18 y of age who presented to the institute over a period of 3 y from July 2008 through June 2011. Those suspected of having a CHD, were further evaluated with ECG, chest radiography and the diagnosis was confirmed by color Doppler echocardiography.

Results

Of the 36541 children examined, 312 were identified as having congenital heart defects, thus giving a prevalence of 8.54 per 1000 children attending hospital. Only one fifth cases were diagnosed in neonatal period and the diagnosis was delayed beyond infancy in more than half of the cases. Ventricular septal defect (30.45%), atrial septal defect (17.63%), patent ductus arteriosus (9.62%), pulmonary stenosis (6.41%), tetralogy of Fallot (5.45%) and transposition of great arteries (5.13%) were the commonest defects observed. Only 9.29% of children with CHD underwent definitive treatment.

Conclusion

The prevalence of CHD at a tertiary referral hospital in Uttarakhand India is 8.54 per 1000 children. VSD and TOF are the most common acyanotic and cyanotic congenital heart defects respectively.     

Neonatal ECG screening for congenital heart disease in Down syndrome

We studied the value of routine neonatal electrocardiography (ECG) in the 1st 48 hours of life to diagnose congenital heart disease in 37 neonates with Down syndrome. Twenty-four infants had no clinical evidence of congenital heart disease, had normal ECGs and normal cardiac anatomy on echocardiography. Thirteen children (35.2%) had congenital heart disease. The ECG was normal in seven infants with congenital heart disease: four with atrial septal defect (ASD), two with tetralogy of Fallot (TOF) and one with ventricular septal defect (VSD). A left QRS axis deviation was found in six infants: five with complete atrioventricular septal defect (AVSD) and one with VSD and mitral valve prolapse. However, only the five infants with complete AVSD had a superior QRS axis. Although neonatal ECG detected the presence of complete AVSD in neonates with Down syndrome, it missed an equal number with other heart defects. Echocardiography remains the way reliably to diagnose or exclude congenital heart disease in these infants.     

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

Background

The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of this study was to determine the frequency of 22q11.2 microdeletion in 87 children suffering from a congenital heart defect (conotruncal or non-conotruncal) coexisting with at least one additional 22q11.2DS feature and to carry out 22q11.2 microdeletion testing of the deleted children's parents. We also attempted to identify the most frequent heart defects in both groups and phenotypic traits of patients with microdeletion to determine selection criteria for at risk patients.

Methods

The analysis of microdeletions was conducted using fluorescence in situ hybridization (FISH) on metaphase chromosomes and interphase nuclei isolated from venous peripheral blood cultures. A molecular probe (Tuple) specific to the HIRA (TUPLE1, DGCR1) region at 22q11 was used for the hybridisation.

Results

Microdeletions of 22q11.2 region were detected in 13 children with a congenital heart defect (14.94% of the examined group). Microdeletion of 22q11.2 occurred in 20% and 11.54% of the conotruncal and non-conotruncal groups respectively. Tetralogy of Fallot was the most frequent heart defect in the first group of children with 22q11.2 microdeletion, while ventricular septal defect and atrial septal defect/ventricular septal defect were most frequent in the second group. The microdeletion was also detected in one of the parents of the deleted child (6.25%) without congenital heart defect, but with slight dysmorphism. In the remaining children, 22q11.2 microdeletion originated de novo.

Conclusions

Patients with 22q11.2DS exhibit wide spectrum of phenotypic characteristics, ranging from discreet to quite strong. The deletion was inherited by one child. Our study suggests that screening for 22q11.2 microdeletion should be performed in children with conotruncal and non-conotruncal heart defects and with at least one typical feature of 22q11.2DS as well as in the deleted children's parents.     

The Unforeseen Toll of Birth Defects and their Economic Burden at a Tertiary Care Public Institute in Mumbai

Objectives

To determine the proportion of patients with birth defects receiving indoor medical care and the economic burden incurred by the Institution in terms of cost of hospitalization.

Methods

This single center, prospective, observational study recruited children >28 d and <12 y of age with birth defect(s) not attributable to an acquired disease. Demographic data, maternal and antenatal data, nature of the defect and information about current and past hospitalization were recorded. Economic burden was estimated by computing bed charges and daily costs incurred by the Institution.

Results

Ninety-eight children (mean age was 3.18 y, M : F ratio was 2.4:1) with 268 birth defects represented 13 % of indoor admissions. The cardiovascular system was involved in 42.9 %. The defect was isolated in 58.2 % of cases and 41.8 % (9.2 % having Down syndrome) had multiple defects. Mean duration of hospital stay (11.23 d) of the birth defect cohort was significantly more (p value?=?0.0005) than other children (7.81 d). Average cost of stay for those with birth defects (18.3 % of the total cost) and other indoor patients was INR 23,481 and INR 16,328 respectively.

Conclusions

Birth defects are an emerging burden in referral centers, incurring one-fifth of the hospital expenditure, partly due to increased length of stay. The figure is an underestimate as the expenses are highly subsidized in a Public health facility.     

Agenesis of the internal carotid artery: associated malformations including a high rate of aortic and cardiac malformations

Background

Agenesis of the internal carotid artery (ICA) is a rare congenital anomaly occurring in less than 0.01% of the population, often incidentally discovered in pediatric populations. We recognized a high incidence of additional congenital malformations in children with ICA agenesis.

Objective

Our study reports nine cases of ICA agenesis and co-existent malformations and discusses implications of the association.

Materials and methods

We conducted a retrospective chart review of nine children evaluated at our institution with imaging findings of ICA agenesis.

Results

Seven children (78%) had congenital aortic or cardiac anomalies including coarctation (4), hypoplastic left heart (1), tetralogy of Fallot (1), and muscular ventricular septal defect (VSD) (1). Four children were diagnosed with an inherited disorder: Alagille syndrome (1), PHACE syndrome (1), VACTERL association (1), and methylenetetrahydrofolate reductase (MTHFR) gene variant (1). Additional congenital anomalies are also described.

Conclusion

In the setting of ICA agenesis, we report a robust association with congenital aortic and cardiac anomalies, as well as a broad spectrum of additional anatomical abnormalities that can occur in the setting of known genetic syndromes or as isolated findings. Knowledge of the natural history of ICA agenesis and associated anomalies will guide optimal care for these children.     

Estimation of radiation dose and risk to children undergoing cardiac catheterization for the treatment of a congenital heart disease using Monte Carlo simulations

Background

Children diagnosed with congenital heart disease often undergo cardiac catheterization for their treatment, which involves the use of ionizing radiation and therefore a risk of radiation-induced cancer.

Objective

The purpose of this study was to calculate the effective and equivalent organ doses (H_T) in those children and estimate the risk of exposure-induced death.

Materials and methods

Fifty-three children were divided into three groups: atrial septal defect (ASD), ventricular septal defect (VSD) and patent ductus arteriosus (PDA). In all procedures, the exposure conditions and the dose-area product meters readings were recorded for each individual acquisition. Monte Carlo simulations were run using the PCXMC 2.0 code and mathematical phantoms simulating a child's anatomy. The H_T values to all irradiated organs and the resulting E and risk of exposure-induced death values were calculated.

Results

The average dose-area product values were, respectively, 40?±?12 Gy·cm² for the ASD, 17.5?±?0.7 Gy·cm² for the VSD and 9.5?±?1 Gy·cm² for the PDA group. The average E values were 40?±?12, 22?±?2.5 and 17?±?3.6 mSv for ASD, VSD and PDA groups, respectively. The respective estimated risk of exposure-induced death values per procedure were 0.109, 0.106 and 0.067%.

Conclusion

Cardiac catheterizations in children involve a considerable risk for radiation-induced cancer that has to be further reduced.     

Survival Analysis of Down Syndrome Cohort in a Tertiary Health Care Center in India

Objective

To identify the major causes of death in Down Syndrome (DS), the ages at which mortality rates are the highest and recognize factors associated with it.

Methods

The prospective cohort-based study was carried out in a tertiary health care center. Children with DS (n?=?543) counseled at the Center of Medical Genetics, Sir Ganga Ram Hospital from 2005 through 2009 were followed up in year 2010. Survival curves and Cox’s proportional hazards regression analysis were used to determine the effect of different variables on survival.

Results

Total mortality was 13 %, of which 80.3 % was in children less than 2 y of age. Presence of congenital heart disease (CHD) increased the risk of mortality by 5.7 folds (p?=?0.001). A definitive survival benefit after cardiac intervention was noted, although it differed with the type of CHD. Sex, maternal age at time of birth and karyotypes did not show a significant correlation with survival.

Conclusions

The higher DS infant mortality observed in the present study could be attributed to financial constraints of the families and misconceptions amongst health professionals. It is recommended that a nation-wide DS registry be created to study the morbidity and mortality in Down syndrome from birth. The findings of this study will help clinicians in making management decisions and enable better counseling.     

Transcatheter Closure of Multiple Perimembranous Ventricular Septal Defects With Septal Aneurysm Using Two Overlapping Amplatzer Duct Occluders II

Ventricular septal defect (VSD) is a common congenital heart defect in children. Perimembranous VSD (Pm VSD), a defect involving the membranous septum and the adjacent portion of the muscular septum, accounts for about 70 % of cases. Transcatheter closure of Pm VSDs using the Amplatzer Pm VSD device, although successful in many patients, has been associated with major adverse events. Complete heart block, thromboembolism, and new-onset valvular regurgitations in patients undergoing VSD closure using the Pm VSD occluder have been reported [3]. Recently, a new retrograde approach for transcatheter closure of Pm VSDs using the Amplatzer Duct Occluder II (ADO II) has been described with a 90 % success rate [1]. This report describes a child who had multiple Pm VSDs with septal aneurysm undergoing successful transcatheter closure using two ADO II occluders with relative ease.     

The pulmonary vascular bed in children with Down syndrome.

Sixty-nine children with Down syndrome (mongolism, trisomy 21), with atrial septal defect, patent ductus arteriosus, ventricular septal defect, or endocardial cushion defects, and 315 children with similar cardiac anomalies without this syndrome underwent cardiac catheterization during an 8-year period from 1964 to 1973. Only patients under 17 years of age were included in the study. Nine tenths of the children with Down syndrome but only one fourth of the control group had abnormally high pulmonary arterial pressures. For example, 9 of 11 children with defects of the atrial septum and Down syndrome had pulmonary hypertension; in contrast, only 5 of 55 control subjects with similar defects had pulmonary hypertension. The data suggest that children with congenital heart disease and Down syndrome have an unusually high pulmonary vascular resistance and a propensity for early development of severe damage to the pulmonary vascular bed.     

Prevalence,Pattern and Outcome of Congenital Heart Disease in Bhabha Atomic Research Centre Hospital,Mumbai

Objective

To assess the prevalence, pattern and outcome of congenital heart disease (CHD) among the babies born in Bhabha Atomic Research Centre (BARC) Hospital, Mumbai and to compare the pattern of CHD with the study done in the same hospital in year 1999.

Methods

A prospective, longitudinal study was conducted from January 2006 through December 2011. Babies presenting with murmur were closely followed up till the diagnosis and further to assess the outcome. 2-D Echocardiography was used as a diagnostic tool.

Results

The overall prevalence of CHD was 13.28 per 1,000 live births. Ventricular septal defect (VSD) was the commonest CHD (42.86 %) followed by Atrial septal defect (ASD) (25.71 %) giving the prevalence of 5.69 and 3.41 per 1,000 live births respectively. Tetrology of Fallot’s (TOF) was the main cyanotic CHD (8.57 %) with the prevalence of 1.13 per 1,000 live births. VSD and TOF were prevalent in males. ASD was prevalent in females. Associated structural anomalies were detected in 22.86 % cases; Down’s syndrome being the commonest.Spontaneous closure rate of 71.4 % in muscular VSD and 50 % in perimembranous VSD was observed. All small sized VSD’s closed spontaneously and all large sized VSD’s required surgical intervention. Spontaneous closure was observed in 44.44 % of ASD cases. Overall, device closure was required in 17.14 % and 25.71 % underwent open heart surgery.

Conclusions

The pattern of CHD has remained almost the same compared to the previous study. The outcome was excellent due to early diagnosis, regular follow up and timely intervention.

     

Congenital heart disease in Down syndrome: an echocardiographic study.

We evaluated the utility of echocardiography in assessing the frequency and nature of cardiac malformations in children with Down syndrome. Fifty cases of chromosomally proven Down syndrome were studied. A physical examination, electro cardiogram, radiograph of chest and two-dimensional echocardiography was performed on all patients. Twenty-two (44%) children had heart diseases. Endocardial-cushion-defect was the commonest anomaly, followed by ventricular septal defect. Three children with heart disease were asymptomatic and had normal X-ray films of chest and ECGs. The prevalence and specific type of congenital heart disease in this study is comparable to the studies using invasive means for diagnosis. The study further suggests that clinical examination of the cardiovascular system alone may not be sufficient in detecting heart disease. Two-dimensional echocardiography offers an excellent non-invasive tool for diagnosing cardiac malformations in Down syndrome.     

Prevalence of Celiac Disease in Indian Children with Down Syndrome and its Clinical and Laboratory Predictors

Objective

To study the prevalence of celiac disease in Indian children with Down syndrome and evaluate its clinical and laboratory predictors.

Methods

Prevalence of celiac disease (CD) was assessed in 100 patients with Down syndrome (DS) attending pediatric genetic clinic at All India Institute of Medical Sciences,in a prospective observational study, based on the characteristic symptomatology, positive indirect immunofluorescence anti endomyseal antibody(anti EMA) test and duodenal histology based on adapted Marsh criteria. Clinical and laboratory features were compared in children having both CD and DS and those with DS alone.

Results

Anti EMA was positive in 7 out of 100 patients screened for CD; 6 in whom the duodenal biopsy could be done showed histopathological features consistent with celiac disease. Amongst various clinical features evaluated as possible risk factors; pallor reached statistical significance (OR?=?7.04 95%CI 1.08–45.7). In addition anemia (Hb <11 g%) was significantly associated with CD (p?=?0.06).

Conclusions

The present results showed a high prevalence of CD in DS children in a tertiary hospital in India and low hemoglobin to be an important risk factor. The authors recommend that all Indian children with Down syndrome, particularly those with anemia should be screened for celiac disease.     

Mortalidad de las cardiopatías congénitas en España durante 10 años (2003-2012)

Introduction and objectives

Congenital heart disease is a major cause of infant mortality in developed countries. In Spain, there are no publications at national level on mortality due to congenital heart disease. The aim of this study is to analyse mortality in infants with congenital heart disease, lethality of different types of congenital heart disease, and their variation over a ten-year period.

Childhood Myelodysplastic Syndrome

Myelodysplastic syndrome (MDS) comprises of a heterogeneous group of bone marrow disorders resulting from a clonal stem cell defect characterised by cytopenias despite a relatively hypercellular marrow, ineffective hematopoiesis, morphological dysplasia in the marrow elements, no response to hematinics such as iron, B12 or folic acid and risk of progression to leukemia. Myelodysplastic syndrome in childhood is extremely rare and accounts for less than 5 % of all hematopoietic neoplasms in children below the age of 14 y. The primary MDS in children, also known as de novo MDS differs from secondary MDS which generally follows congenital or acquired bone marrow (BM) failure syndromes as well as from therapy related MDS, commonly resulting from cytotoxic therapy. MDS associated with Down syndrome which accounts for approximately one-fourth of cases of childhood MDS is now considered a unique biologic entity synonymous with Down syndrome-related myeloid leukemia and is biologically distinct from other cases of childhood MDS. Refractory cytopenia of childhood (RCC) is the commonest type of MDS. Genetic changes predisposing to MDS in childhood remain largely obscure. Monosomy 7 is by-far the commonest cytogenetic abnormality associated with childhood MDS; however most cases of RCC show a normal karyotype. Complex cytogenetic abnormalities and trisomy 8 and trisomy 21 are also occasionally observed. The most effective and curative treatment is Hematopoietic stem cell transplantation and this is particularly effective in children with the monosomy 7 genetic defect as well as those displaying complex karyotype abnormalities provided it is instituted early in the course of the disease.     

Hemodynamic effects of laparoscopic surgery in term and preterm infants with cardiac anomalies

Purpose

The aim of this study was to clarify whether cardiac anomalies are a reasonable contraindication to laparoscopic surgery in infants.

Methods

Between January 2004 and January 2013, 131 term and preterm infants with cardiac anomalies underwent laparoscopic surgery within the first 6 months of life. In this retrospective study type of cardiac anomaly, performed operative procedure, operative time, intraabdominal pressure and postoperative complications were evaluated.

Results

Over this 9-year period, 80 preterm and 51 term infants underwent different complex and even long-lasting laparoscopic procedures. Median operative time was 67 min with a median intraabdominal pressure of 13 mmHg. Cardiac anomalies ranged from persistent foramen ovale, atrium septal defect to ventricular septal defect and tetralogy of Fallot. In the postoperative course hemodynamic impairment was noted in three infants (2.3 %). Only one of them presented cardiorespiratory instability.

Conclusion

In this study different laparoscopic procedures could be performed in numerous infants with cardiac anomalies. Due to the inhomogeneity of this group of patients and individual combinations of heart defects with or without hemodynamic relevance, preoperative evaluation by a firm pediatric cardiologist is crucial. Prospective studies are necessary to further clarify the use of laparoscopic surgery in this distinct group of patients.     

Association of Hirschsprung’s disease and anorectal malformation: a systematic review

Background

The association of Hirschsprung’s disease (HD) and anorectal malformation (ARM) is rare. The exact incidence of this association is not known but HD coexisting with ARM has been reported in 2.3 to 3.4 % of ARM cases. Most of the reported cases in the literature have been single case reports. The aim of this systematic review was to determine the incidence of HD associated with ARM and its relationship to other syndromes.

Methods

A systematic review of the literature was performed for the keywords “association of Hirschsprung’s disease and anorectal malformation”, “aganglionosis and anorectal malformation” as well as “congenital megacolon and anorectal malformation”. Resulting publications were reviewed for epidemiology, operative treatment and morbidity. Reference lists were screened for additional cases.

Results

A total of 38 articles reported 90 cases of HD coexisting with ARM from 1952 to 2013. Twenty eight articles reported 40 single case reports of this association. Ten articles reported 50 cases of HD in case series of 2,465 ARM patients, resulting in an incidence of 2 % of this association. Gender was reported in 63 cases, with 30 males (48 %) and 33 females (52 %). Associated syndromes were reported in 23 patients: Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 3 and Pallister-Hall syndrome in one case. Extent of aganglionosis was reported in 49 cases and included classical rectosigmoid disease in 36, long segment aganglionosis in 5, total colonic aganglionosis in 7 and total intestinal aganglionosis in one patient. In 35 % of the patients stoma was created in the aganglionotic region and failed to work. There was a median delay of 8 months for the diagnosis of HD from initial diagnosis of ARM. Various surgical techniques were employed for the pull-through operation for HD.

Conclusion

The review confirms that the recognition of HD is often delayed because of the initial diagnosis of ARM and the fact that the dysfunctional colostomy is usually proximal to the affected aganglionotic bowel. There is a high incidence of associated syndromes when HD coexists with ARM.     

Screening for Congenital Heart Disease in Infants with Down Syndrome: Is Universal Echocardiography Necessary?

Current guidelines recommend that all neonates with Down syndrome (DS) be screened for congenital heart disease (CHD) with an echocardiogram. We sought to determine the effectiveness of a more accessible and less expensive screening strategy consisting of physical examination, electrocardiogram (ECG), and chest X-ray. The Intermountain Healthcare Enterprise Data Warehouse was used to identify infants with a positive karyotype for DS who were born between January 1, 2000, and June 30, 2012. Infants with the results of an echocardiogram, physical examination, ECG, and chest X-ray documented at age ≤6 months were included. Infants with an abnormality on physical examination, ECG, or chest X-ray were considered to have a positive screen. Echocardiography was the gold standard for calculating sensitivity, specificity, positive and negative predictive values for major CHD, defined as any heart defect that would typically require intervention during early childhood. Of 408 eligible infants, 240 (59 %) had major CHD, of whom 228 (95 %) had a positive screen. Screening missed eight infants with moderate/large patent ductus arteriosus and four infants with a moderate/large atrial septal defect. In 11 of these infants, the defect resolved spontaneously by age ≤4 months. One infant had a moderate atrial septal defect persisting at 2-year follow-up. Sensitivity and specificity of the screening for detecting CHD were 95 % (CI 92–98 %) and 41 % (CI 32–47 %); positive and negative predictive values were 69 % (CI 63–73 %) and 85 % (CI 75–92 %). Screening with physical examination, ECG, and chest X-ray is an effective method of identifying which infants with DS should have an echocardiogram. This method would have resulted in 69 (17 %) fewer echocardiograms without missing infants with major CHD.     

Incidence of heart defects in Down syndrome

Eighty-six patients with Down Syndrome were studied with the main purpose of quantifying the incidence of congenital heart defects and the risk of occurrence according to the mothers age. Thirty-eight patients had the cariotypes determined, 35 of them having trissomy of chromosome 21 and translocation in 3 cases. Congenital heart disease was found in 44 (51%) of the patients, the most common one being ventricular septal defect. An important incidence of Fallot's tetralogy was also found (20%). These 86 children were submitted to 41 surgical procedures, most of them on the cardiovascular system. The maternal mean age was 33 -/+ 8.6 years and the estimated risk of Down Syndrome was 1/590, a lower value than the one reported in other studies.