D-transposition Of Great Arteries Research Articles

Timely Detection of Subclinical Heart Failure Among Children with D-Transposition of Great Arteries after Senning Operation: A Single Center Experience

Timely Detection of Subclinical Heart Failure Among Children with D-Transposition of Great Arteries after Senning Operation: A Single Center Experience

Incidence of coronary anomalies in patients with D-transposition of great arteries (D-TGA) after arterial switch operation (ASO)

Abstract Background and purpose D-transposition of great arteries (D-TGA) is a congenital cardiac defect defined by atrioventricular concordance and ventriculo-arterial discordance. Arterial switch operation (ASO) is currently the surgical repair and implies reimplantation of the coronary arteries from the aorta into the neo-aortic root. As such, long-term coronary anomalies and complications are possible and potentially dangerous. Recently, coronary computed tomography angiography (CCTA) has gained a prominent role for characterization of the coronary anatomy in these patients (pts) and its relationship with adjacent structures. However, routine coronary evaluation among asymptomatic pts after ASO remains controverse, as the reported incidence of coronary-related complications is low. The purpose of this study is to perform a descriptive analysis of CCTA findings in pts with D-TGA after ASO. Methods We performed a retrospective single center study that included patients with D-TGA submitted to ASO who underwent CCTA. Demographic, clinical and imaging data were collected. Results We identified 57 pts with D-TGA submitted to ASO. Of these, 39 (68%) performed a CCTA. Mean age of pts was 20.4 (± 3.8) years; 54% were male; 32% had complex D-TGA. In 35 patients (90%), CCTA was performed as part of a routine screening. In 4 (10%) pts CCTA was done due to symptoms or an abnormal non-invasive test suggestive of myocardial ischemia. Eighteen (46%) pts had coronary anomalies: 5 (13%) had an acute angulation at the coronary origin; 13 (33%) pts had anomalous origin of the coronary arteries, ranging from presence of a single coronary artery in 3 (8%) pts, common independent origin from a single sinus of Valsalva in 6 (15%) cases and anomalous origin of the circumflex artery from the right coronary artery (RCA) in 4 (10%) pts. An interarterial course was described in 2 (5%) pts and a retroaortic course was reported in 8 (21%) cases. One patient had anomalous course of the LAD into the right ventricle, a mild calcified ostial stenosis of the left main coronary artery and a chronic total occlusion of the RCA. Conclusions D-TGA patients submitted to ASO have a high incidence of coronary anomalies. Routine screening with CCTA may be justified to identify patients who may be at higher risk of coronary events.

Intracavitary blood flow dynamics in the systemic right ventricle: a 4D-Flow MRI study

Abstract Funding Acknowledgements Type of funding sources: None. Background Failure of the systemic right ventricle (SRV) is based on morphological differences between right and left ventricles (RVs and LVs). RV adaptation to systemic afterload includes increased circumferential (GCS) over longitudinal global myocardial strain (GLS) with an unknown impact on intracavitary blood flow distribution. This study aimed to explore the SRV pattern of hemodynamic forces (HFs). Methods 4D-Flow cardiovascular magnetic resonance data were acquired using a prototype sequence on a 1.5-T MAGNETOM Aera. The ratio between transverse (inferior-anterior, HFIA and septal-lateral, HFSL) and longitudinal (basal-apical, HFBA) HFs (RRMS) was calculated as in Figure 1, for systole and diastole. Results We enrolled 12 adults with SRV (6 D-transposition of great arteries after atrial switch operation and 6 L-transpositions) and 12 age-matched healthy subjects (41±12 vs 42±13,p = 0.89). SRVs reported comparable end-diastolic volumes (83±18 ml/m2), ejection fraction (60±8%) and GLS (−20.2±3.8%) to control RVs (75±13 ml/m2,p = 0.18; 64±5%,p = 0.25; −23±5.6%,p = 0.21). Differently, SRV mass (55±24 g/m2) and GCS (−18.9±7.8%) were greater than RVs (20±3 g/m2,p<0.001 and −12.4±4,p = 0.016) and comparable to control LVs (57±11 g/m2,p = 0.7 and −20.2±3.8%,p = 0.3). The 4D-Flow analysis showed that SRV systolic RRMS (0.98±0.31) was similar to LVs (0.94±0.27,p = 0.78) but lower than RVs (1.32±0.45,p = 0.04). This reflected a significantly increased HFBA with respect to RVs (0.338±0.150 vs. 0.162±0.097, p = 0.0025) and similar to LVs (0.462 ± 0.186, p = 0.087). Concomitantly, a moderate correlation was demonstrated between SRV systolic HFBA magnitude and GCS (r2=0.47,p = 0.013). During diastole, SRVs showed lower HFBA (0.173±0.086) than LVs (0.304±0.104,p = 0.0028), revealing a diastolic RRMS (0.74 ± 0.14) comparable to RVs (0.73 ± 0.17,p = 0.95) and significantly different from LVs (0.50 ± 0.19,p = 0.003). Conclusions In SRVs, RRMS is similar to LVs during systole, possibly as a result of increased GCS. Inversely, the SRV filling appears to be closely related to ventricular morphology as suggested by RRMS comparable to RVs during diastole.

Left Ventricular Outflow Obstruction in D-Transposition of Great Arteries: A Rare Etiology

A 2-day old neonate [gender: male; weight: 3.2 kg; height: 53cm] presented to the authors institution with an arterial oxygen saturation of 74%. The child was receiving 6 cm H2O continuous positive airway pressure therapy [FIO2: 0.5] and was treated with a prostaglandin E1 infusion [10ng/kg/min]. Transthoracic echocardiography revealed situs solitus, levocardia, normal systemic and pulmonary venous drainage and a 6 mm non-restrictive atrial septal defect with a left to right shunt. The atrioventricular connections were concordant. The aorta was arising from the right ventricle with no right ventricular outflow obstruction [Figure 1]. The pulmonary artery was arising from the left ventricle with confluent good size branch pulmonary arteries with posterior deviation of the conal septum [Figure 2]. A large perimembranous (conoventricular type)1 ventricular septal defect with an inlet [6 mm] and outlet [6 mm] extension and an additional tiny apical defect were demonstrated [Figure 3]. A patent ductus arteriosus [2.7 mm] shunting left to right was also present (not shown). A 2-dimensional echocardiography image in the parasternal long axis view displayed an obstruction to the left ventricular outflow tract [white arrow] and a color Doppler blood flow map demonstrated turbulence in the outflow tract [Figure 4A,B]. In the subcostal view with the probe tilted anteriorly, color flow Doppler mapping showed the ventricular septal defect and also the blood flow acceleration across the left ventricular outflow tract [Figure 5, videolip-1]. At the area of turbulence, the jet width was 0.234 cm[Figure 6A]. A continuous wave Doppler interrogation of the area demonstrated a gradient of ≈ 25 mmHg [Figure 6B]. 2-dimensional transthoracic echocardiography interrogation in the subcostal view identified the etiology of the left ventricular outflow tract obstruction [Figure 7, Videoclip-2]. What is the diagnosis? Figure 2Transthoracic echocardiography image showing the relationship between the pulmonary artery and the left ventricle. View Large Image Figure Viewer Download Hi-res image Figure 3Subcostal 4-chamber transthoracic echocardiography image showing the perimembranous ventricular septal defect. View Large Image Figure Viewer Download Hi-res image Figure 4A&B. Parasternal long axis transthoracic echocardiography 2-dimensional image showing the obstruction in the left ventricular outflow tract ‘white arrow’ [A], and turbulence in the outflow tract by a color Doppler blood flow map ‘white arrow’[B]. View Large Image Figure Viewer Download Hi-res image Figure 5Subcostal transthoracic echocardiography image showing color Doppler flow acceleration over the left ventricular outflow tract and a ventricular septal defect. View Large Image Figure Viewer Download Hi-res image Figure 6A&B. Subcostal transthoracic echocardiography image showing the width of the obstruction [A] and the pressure gradient across the obstruction [B]. View Large Image Figure Viewer Download Hi-res image Figure 7A subcostal transthoracic echocardiography view showing the etiology of the left ventricular outflow tract obstruction in systole. View Large Image Figure Viewer Download Hi-res image

Cord blood cardiovascular biomarkers in tetralogy of fallot and D-transposition of great arteries.

A prospective cohort study (2014-2019), including fetuses with isolated ToF and D-TGA and healthy controls, was conducted at two tertiary referral centers for CHD in Barcelona. Obstetric ultrasound and fetal echocardiography were performed in the third trimester and cord blood was obtained at delivery. Cord blood concentrations of N-terminal precursor of B-type natriuretic peptide, Troponin I, transforming growth factorβ (TGFβ), placental growth factor, and soluble fms-like tyrosine kinase-1 were determined. Thirty-four fetuses with conotruncal-CHD (22 ToF and 12 D-TGA) and 36 controls were included. ToF-fetuses showed markedly increased cord blood TGFβ (24.9 ng/ml (15.6-45.3) vs. normal heart 15.7 ng/ml (7.2-24.3) vs. D-TGA 12.6 ng/ml (8.7-37.9); P = 0.012). These results remained statistically significant even after adjusting for maternal body mass index, birth weight and mode of delivery. TGFß levels showed a negative correlation with the pulmonary valve diameter z-score at fetal echocardiography (r = -0.576, P = 0.039). No other differences were found in the rest of cord blood biomarkers among the study populations. Likewise, no other significant correlations were identified between cardiovascular biomarkers, fetal echocardiography and perinatal outcome. This study newly describes increased cord blood TGFβ concentrations in ToF compared to D-TGA and normal fetuses. We also demonstrate that TGFβ levels correlate with the severity of right ventricle outflow obstruction. These novel findings open a window of research opportunities on new prognostic and potential preventive strategies.

Clinical deterioration following arterial switch surgery due to extensive aortopulmonary collaterals, unusual condition but worth considering: case report

BackgroundThe occurrence of major aortopulmonary collateral arteries (MAPCAs) is infrequent in patients with D-transposition of great arteries (D-TGA) with intact ventricular septum (IVS). Hemodynamically significant MAPCAs may complicate the postoperative course of these patients after arterial switch operation (ASO).Case presentationWe present a rare case of neonatal D-TGA-IVS associated with extensive MAPCAs. After the ASO, the patient developed pulmonary hemorrhage, chest wall edema, and deterioration of lung compliance with the need for high-frequency ventilation (HFV). The patient also had a significant capillary leak with skin edema, high chest tube drainage, and high peritoneal drainage. Cardiac catheterization revealed extensive MAPCAs supplying the whole lung segments. After the catheter closure of most of these MAPCAs, the patient had clinical improvement.ConclusionsAlthough the occurrence of MAPCAs with D-TGA-IVS is infrequent, clinicians should suspect their presence in cases with unexplained heart failure, pulmonary hemorrhage, or cardiovascular compromise after ASO. Catheter closure of MAPCAs is feasible with an acceptable short-term outcome.

Exercise Capacity After Arterial Switch Operation in Patients with D-Transposition of Great Arteries: Does the Coronary Artery Anatomy Matter?

Variant coronary anatomy (VarCA) is frequent in D-Transposition of the great arteries (d-TGA). There are a paucity of data on the effect of the VarCA on the exercise capacity (XC) in patients with repaired d-TGA. This retrospective study included patients with d-TGA who underwent an arterial switch operation (ASO) and had at least one cardiopulmonary exercise test (CPET). Data from the treadmill CPET and simultaneously performed spirometry were collected. The parameters of CPET were compared between patients with usual anatomy vs. VarCA. Longitudinal changes in XC in patients with ASO were also analyzed. A total of 44 patients with either usual coronary anatomy (n = 27, 61%) or VarCA (n = 17, 39%) met inclusion criteria. There was no significant difference in oxygen consumption (%VO2) at initial CPET (104 vs. 100%, p = 0.53) between the two groups. Abnormal %VO2 (< 85%) was uncommon in both groups (n = 2, 7.4% vs. n = 4; 23.5%; p = ns). For longitudinal changes, there was no significant decline in %VO2 in either group: (i) usual coronary anatomy (n = 15, median follow-up 4.8years, %VO2 111 vs. 108%; p = 0.306) and (ii) VarCA (n = 10, median follow-up 6.6years, %VO2 106 vs. 92%; p = 0.441). Spirometry was abnormal in 25 (59.5%) patients [restrictive (n = 8, 19.0%), obstructive (n = 15, 35.7%), and mixed (n = 2, 4.8%)] butabnormal spirometry had no impact on the XC. Patients with d-TGA who underwent neonatal ASO uniformly exhibited good XC without any longitudinal decline on medium-term follow-up, regardless of coronary artery anatomy. Although frequent (60%), abnormal spirometry was not associated with reduced exercise capacity.

D-Transposition of great arteries with severe calcific aortic stenosis in an adult patient: a rare presentation.

D-Transposition of great arteries with severe calcific aortic stenosis in an adult patient: a rare presentation.

The Effect of Size and Asymmetry at Birth on Brain Injury and Neurodevelopmental Outcomes in Congenital Heart Disease

Poor and asymmetric fetal growth have been associated with neonatal brain injury (BI) and worse neurodevelopmental outcomes (NDO) in the growth-restricted population due to placental insufficiency. We tested the hypothesis that postnatal markers of fetal growth (birthweight (BW), head circumference (HC), and head to body symmetry) are associated with preoperative white matter injury (WMI) and NDO in infants with single ventricle physiology (SVP) and d-transposition of great arteries (TGA). 173 term newborns (106 TGA; 67 SVP) at two sites had pre-operative brain MRI to assess for WMI and measures of microstructural brain development. NDO was assessed at 30 months with the Bayley Scale of Infant Development-II (n = 69). We tested the association between growth parameters at birth with the primary outcome of WMI on the pre-operative brain MRI. Secondary outcomes included measures of NDO. Newborns with TGA were more likely to have growth asymmetry with smaller heads relative to weight while SVP newborns were symmetrically small. There was no association between BW, HC or asymmetry and WMI on preoperative brain MRI or with measures of microstructural brain development. Similarly, growth parameters at birth were not associated with NDO at 30 months. In a multivariable model only cardiac lesion and site were associated with NDO. Unlike other high-risk infant populations, postnatal markers of fetal growth including head to body asymmetry that is common in TGA is not associated with brain injury or NDO. Lesion type appears to play a more important role in NDO in CHD.

Right ventricular afterload in repaired D-TGA is associated with inefficient flow patterns, rather than stenosis alone.

Treatment of D- transposition of great arteries (DTGA) involves the Arterial Switch Operation (ASO), which can create PA branch stenosis (PABS) and alter PA blood flow energetics. This altered PA flow may contribute to elevated right ventricular (RV) afterload more significantly than stenosis alone. Our aim was to correlate RV afterload and PA flow characteristics using 4D flow cardiac magnetic resonance (CMR) imaging of a mock circulatory system (MCS) incorporating 3D printed replicas. CMR imaging and clinical characteristics were analyzed from 22 ASO patients (age 11.9 ± 8.7years, 68% male). Segmentation was performed to create 3D printed PA replicas that were mounted in an MRI-compatible MCS. Pressure drop across the PA replica was recorded and 4D flow CMR acquisitions were analyzed for blood flow inefficiency (energy loss, vorticity). In post-ASO patients, there is no difference in RV mass (p = 0.07), nor RV systolic pressure (p = 0.26) in the presence or absence of PABS. 4D flow analysis of MCS shows energy loss is correlated to RV mass (p = 0.01, r = 0.67) and MCS pressure differential (p = 0.02, r = 0.57). Receiver operating characteristic curve shows energy loss detects elevated RV mass above 30g/m2 (p = 0.02, AUC 0.88) while index of PA dimensions (Nakata) does not (p = 0.09, AUC 0.79). PABS alone does not account for differences in RV mass or afterload in post-ASO patients. In MCS simulations, energy loss is correlated with both RV mass and PA pressure, and can moderately detect elevated RV mass. Inefficient PA flow may be an important predictor of RV afterload in this population.

A Simplified Approach to Predicting Reintervention in the Arterial Switch Operation

We investigated patients with transposition anatomy suitable for the arterial switch operation (ASO) to evaluate a simplified approach to prediction of reintervention. A retrospective review was performed of 180 consecutive patients who underwent ASO from 2009 to 2018. Patients were classified as Category I (n = 122) d-transposition of great arteries (dTGA) + intact ventricular septum, Category II (n = 28) dTGA + ventricular septal defect (VSD) and Category III (n = 30) dTGA + Aortic arch obstruction (AAO) +/- VSD or Taussig-Bing Anomaly (TBA) +/- AAO. Outcomes included reintervention-free survival (using Kaplan-Meier estimates) and predictors of reintervention. Median follow up was 3.3 (interquartile range 1.7-5.8) years with no difference between categories(P = 0.082). There were 3 mortalities- 2 early (one each in Category I and II) and one late (in Category I). Reintervention-free survival for the whole group at 1, 3, 5 and 8 years was 94%, 91%, 90% and 86% respectively. Conventional criteria predicting reintervention included the presence of TBA(P = 0.0054) and AAO(P = 0.027). Low birth weight did not predict reintervention(P = 0.2). When analyzed by category, multivariable analysis showed that patients in Category III carried a high risk of reintervention [Hazard risk (HR) = 7.43, 95% confidence interval (CI)=(2.39, 23.11), P < 0.001], but so did those in Category II [HR=6.90, 95% CI = (2.19, 21.75, P < 0.001] when compared to Category I. Conventional risk factors for technical difficulty may not be the best predictors of reintervention. A simplified approach highlights Category II patients (dTGA + VSD) as being at substantial risk of re-intervention, and not part of a low risk cohort.

TO STUDY THE SPECTRUM OF NEONATAL CONGENITAL CARDIAC DISORDERS

Background:Congenital heart disease (CHD) is the commonest of all congenital lesions and is the most common type of heart disease among children. Congenital heart disease, in a definition proposed by Mitchell et al is a gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance. It is the most common cause of major congenital anomalies, representing a major global health problem. Twenty-eight percent of all major congenital anomalies consist of cardiac anamolies. In India, 10% of the present infant mortality may be accounted for by Congenital Heart Disease as reported by Saxena et al. Aim: To study the Spectrum of Neonatal Congenital Cardiac Disorders Material and methods:It was an observational prospective study carried out in the Neonatology Section, Department of Pediatrics, GB Panth Childrens hospital Srinagar from November 2017 to August 2019. Results:During the two year study, 471 neonates were diagnosed with congenital heart disease in which 335 (71.1%) were acyanotic and 136 (28.9%) were cyanotic. Males and females comprised of 253 and 218 respectively with a male to female ratio of 1.2:1. The most common cyanotic CHD was d-transposition of great arteries (d-TGA) 39 (8.3%), followed by tetralogy of Fallot (TOF) 23 (4.9%) and single ventricle (double inlet left ventricle [DILV] with pulmonary arterial hypertension/pulmonary stenosis [PAH/PS]) 17 (3.6%). In our study the most common acyanotic CHD was ventricular septal defect (VSD) 103 (32.5%) followed by atrial septal defect (ASD) 98 (20.8%) and PDA 47 (10.0%). Conclusion:Congenital heart disease (CHD) is a common congenital disorder of the neonatal population. Early diagnosis and timely management are key factors for optimal outcome of this problem.

Anaesthetic considerations in a neonate with unrepaired D-transposition of great arteries with non-syndromic holoprosencephaly for emergency exploratory laprotomy: A case report

D-Transposition of great arteries (D-TGA) is a cyanotic congenital heart disease (CHD) characterized by parallel circulation. Non syndromic holoprosencephaly is an abnormality of brain development resulting from failure or incomplete division of embryonic forebrain into distinct cerebral hemisphere. Major challenges in patients of D-TGA are hemodynamic instability, cyanotic spell, coagulopathy, acid base and electrolyte imbalance. We report successful management of one day old neonate posted for emergency resection anastomosis for ileal atresia with unrepaired d-TGA and non-syndromic holoprosencephaly.

Emerging Treatment Options for the Systemic Right Ventricle: A Single Centre Experience of Sacubitril/Valsartan in Transposition of Great Arteries

Over the last few decades, we are appreciating the need of tailored treatment options for adults with congenital heart disease. Patients with D-transposition of great arteries (D-TGA) with atrial switch operations or L-TGA often develop systemic right ventricular (sRV) dysfunction as a long-term complication. Sacubitril/valsartan has become guideline-based therapy for patients with symptomatic left ventricular systolic dysfunction, however it is unclear if these results can be extrapolated to patients with a sRV.

Incidental Intraoperative Detection of Central Venous Catheter-related Internal Jugular Vein Thrombus in an Infant with d-Transposition of Great Arteries.

Incidental Intraoperative Detection of Central Venous Catheter-related Internal Jugular Vein Thrombus in an Infant with d-Transposition of Great Arteries.

Abstract 16907: Relationship Between 3 rd Trimester Umbilical Arterial Blood Flow and Neurodevelopmental Outcomes at 2 Years in Major Fetal Heart Disease

Introduction: Congenital heart disease (CHD) requiring surgical intervention in infancy is associated with impaired neurodevelopmental (ND) outcomes which may be due in part to prenatal insults. Supporting this, we recently found an inverse relationship between 3 rd trimester umbilical artery Doppler-based (UA) pulsatility index (PI=systolic velocity-diastolic velocity/mean velocity) and growth and ND outcomes at 2 years in hypoplastic left heart syndrome and d-transposition of great arteries. In the present study we explore associations between 2 nd and 3 rd trimester UA-PI in all major fetal CHD and 2-year ND outcomes. Methods: We identified all patients with major structural CHD and fetal echocardiography who underwent cardiac surgery and 2-year ND and biometric assessments (Western Canadian Complex Pediatric Therapies Follow-up Program) from 2007-2017 in our program. Eligible surgeries were: bypass &lt; 6 weeks, shunts at &lt; 6 months or isomerisms with surgery at &lt; 12 months. Patients with genetic syndromes were excluded. 2 nd and 3 rd trimester UA-PI z scores were examined for relationships with 2 year Bayley III ND scales. Data is presented as mean (SD). Results: Data from 147 children was analysed (see Table). 2 nd and 3 rd trimester fetal echo was performed at 22.4(3.7) and 34.7(2.9) weeks, with UA-PI z scores of 0.18 (0.3), and 0.51(1.4) and respectively. The Bayley III cognitive, language and motor scores were 93(13), 89(15) and 89(14) for the entire group. Multivariable regression analysis of the entire group and specific subgroups showed an inverse relationship between 3 rd trimester UA-PI and ND domains (see Table). No association was found for 2 nd trimester UA-PI and ND for the whole group and subgroups. Conclusions: Increased 3 rd trimester UA-PI, which could reflect an altered late gestation placental circulation, inversely relates to abnormal 2 year ND. These relationships are most notably observed in SVs and in CHD associated with AOTO.

P1445 DORv and window: a case of an uncorrected double outlet right ventricle with d-transposition of great arteries with concomitant aortopulmonary window in a 31-year-old female

Abstract Funding Acknowledgements none Double outlet right ventricle (DORV) is a rare type of ventriculo-arterial connection occurring in about 1-3% of congenital heart defects. Moreover, transposition of the great arteries, wherein the aorta is anterior and to the right of the pulmonary artery (D-TGA), accounts for only 26% of cases of DORV. An aortopulmonary window, on the other hand, represents approximately only 0.2% of all congenital cardiac lesions. A case of DORV with D-TGA and pulmonary stenosis with a concomitant aortopulmonary window has never been reported, particularly in an adult in the third decade of life and without any history of surgical repair. We present the case of a 31-year-old female who had sought consult for left-sided weakness. On physical examination, a grade IV/VI systolic murmur was heard at the left anterior chest and cyanosis of the digits of the upper and lower extremities were noted. Transthoracic echocardiogram revealed a non-restrictive ventricular septal defect (VSD) and segmental approach showed atrial and visceral situs solitus, levocardia, and atrioventricular concordance. However, there was ventriculoarterial discordance with fusiform aneurysmal dilatation of the aorta, which was noted to be at the right of and anterior to the pulmonary artery. Both great vessels arose from the right ventricle. Other echocardiographic findings included dilated right atrium, dilated and hypertrophied right ventricle with volume and pressure overload, global left ventricular hypokinesia with mild systolic dysfunction, and moderate to severe aortic regurgitation. The above complex congenital anomalies were confirmed via transesophageal echocardiogram and cardiac magnetic resonance imaging (MRI). Furthermore, pulmonary valve stenosis and aortopulmonary window, that was 3.5 centimeters in length located at the level of the proximal ascending aorta and main pulmonary artery, were seen on the MRI. Various cardiac imaging modalities aided in cinching the diagnosis for this very rare complex congenital case in an adult reaching the third decade of life. Palliative care was deemed best for this patient due to the severity of her cardiac condition. Abstract P1445 Figure 1.

A case of diabetic fetopathy: caudal regression syndrome and associated anomalies

Uncontrolled periconceptional diabetes in mother can give rise to severe malformation in the offspring. Author describe a case of diabetic fetopathy presenting as a case of Caudal regression syndrome along with cardiovascular, gastrointestinal and genitourinary anomaly. Though most cases of Caudal regression syndrome are sporadic, it is the most specific lesion of diabetic fetopathy. Clinical presentation varies depending on the severity of the neurological lesion along with the presence of other anomalies, most commonly genitourinary malformation. The index case described here had a type IV lumbosacral agenesis with severe bilateral motor and sensory deficits along with D-Transposition of great arteries and Pyloric atresia. Such cases arise due to inadequate prenatal care of diabetic mother, which is not uncommon in developing country like India.

Congenital heart disease in neonates: Their clinical profile, diagnosis, and their immediate outcome

Background: Congenital heart disease (CHD) occurs in approximately 0.6%–0.8% of live births. Early recognition of CHD is important for appropriate management and decision-making regarding referral. The purpose of this study was to document the common presenting symptoms and signs in the neonates with CHD, definitive diagnosis, and their outcome. Materials and Methods: The study was conducted prospectively in Neonatal Intensive Care Unit, G.B Pant Children Hospital, Department of Pediatrics and Neonatology, GMC Srinagar, from January 2016 to January 2018. Echocardiography screening of all neonates suspected of having CHD was done. Details of all neonates having CHD diagnosed by echocardiography were noted in the prescribed pro forma and their incidence, clinical profile, and outcome were studied. Results: Totally 529 cases of CHD diagnosed by echocardiography in the neonatal period were studied, out of which 280 were male and 259 were female (male:female = 1.12:1). 382 (72.2%) had acyanotic CHD and 147 (27.7%) had cyanotic CHD (CCHD). Among the acyanotic CHD, the most common CHD was ventricular septal defects (n = 170, 32.1%), and among cyanotic group, d-transposition of great arteries was most common (n = 41, 7.75%). Majority of CCHDs were diagnosed in 1st week of life (n = 50, 34.01%) and most of the neonates with acyanotic CHD were diagnosed in the 4th week of life (n = 207, 39.1%). The most common presenting problem of neonates was fast breathing 230 (43.4%) followed by feeding difficulty 110 (20.77%), cyanosis 91 (17.2%), shock manifested as decreased urine output (n = 43, 8.1%), 43 neonates (8.1%) had cyanosis along with fast breathing, and 32 neonates (6.04%) presented with murmur only. Sixty neonates (40.8%) with CCHD expired within the neonatal period. Conclusion: Neonates with CHD have a unique presentation and they carry a poor outcome unless diagnosed early and managed appropriately. Infants presenting with multiple anomalies should be screened for any underlying structural heart disease. High index of suspicion is very important as many neonates with CHD are asymptomatic initially.

Maternal and neonatal micronutrient levels in newborns with CHD.

It is suggested that folic acid and/or multivitamins, taken periconceptionally, have a role in the prevention of many congenital anomalies. The aim of this study was to determine the serum micronutrient levels in mother-infant pairs with CHD compared with those with healthy newborns and their mothers. Serum levels of folic acid, homocysteine, zinc, vitamin A, vitamin D, and vitamin B12 were measured from 108 newborns with CHD (study group) and 103 healthy newborns (control group). The mothers' micronutrient levels were also measured simultaneously. When compared with healthy newborns, for both maternal and neonatal data, homocysteine and zinc levels were higher and vitamin D levels were lower in the study group. In multivariate analysis, only maternal high zinc levels were associated with CHD in the newborns (p=0.02, OR: 0.9, 95% CI 0.8-0.9). The results did not change when analysed for truncal anomalies including truncus arteriosus, tetralogy of Fallot, and d-transposition of great arteries. There were positive correlations between maternal and neonatal levels of micronutrients, except vitamin B12. We thought that high homocysteine and zinc levels and low vitamin D levels in mother-infant pairs might have a role in the aetiopathogenesis of CHD. Large-scale, prospective studies are needed to clarify the role of micronutrients in CHDs.