Placement of permanent pacemaker in a low-birth-weight infant with congenital heart block: a case report.

One of the rare diseases with a high mortality rate in infants is congenital heart block (CHB) with neonatal lupus erythematosus (NLE) as the most common cause. A permanent pacemaker (PPM) is indicated for symptomatic bradycardia. The choice of PPM in the paediatric population is different from that in the adult population because of several reasons like small size, account of somatic growth, and difference in physiological changes. Here, we present a case in which a 2.6 kg and 45 days old baby with CHB secondary to NLE was successfully treated with a single-chambered adult-sized PPM with epicardial lead. According to our knowledge, this is the smallest baby in Pakistan in which PPM has been implanted.

Anomalous left coronary artery from pulmonary artery (ALCAPA) as a silent cause of mitral regurgitation in children.

Anomalous left coronary artery from pulmonary artery (ALCAPA), also known as Bland-White-Garland syndrome, is a rare cardiac disease. This condition may present with complications such as myocardial infarction, left ventricular dilatation, mitral regurgitation, and left heart failure in children. We report a case of a four-year-old boy who presented with shortness of breath, palpitations, and recurrent upper respiratory tract infections. He was diagnosed with mitral regurgitation. During the surgery, left coronary artery (LCA) was not present in its anatomical position and ALCAPA was identified. One should keep in mind the possibility of ALCAPA in presentation of mitral regurgitation in children despite not being reported in echocardiography.

Evaluation of cardiac function in fetuses of mothers with gestational diabetes.

OBJECTIVE: The purpose of this study was to assess fetal cardiac function in normal fetuses (control group) compared to those who are exposed to gestational diabetes mellitus using different echocardiographic measurements, and to explore the application of left atrial shortening fraction in determination of fetal diastolic function with gestational diabetes mellitus. METHODS: A total of 50 women with gestational diabetes and 50 women with a healthy pregnancy were included in the study. Fetal echocardiography was performed and structural as well as functional fetal cardiac parameters were measured. Data were compared between with or without fetal myocardial hypertrophy and the control group. RESULTS: In the study group, out of 50 fetuses of gestational diabetic mothers, 18 had myocardial hypertrophy and 32 had normal septal thickness. Gestational age at time of examination did not differ significantly between the control and gestational diabetes group (p = 0.55). Mitral E/A ratio was lower in gestational diabetes group as compared to the control (p < 0.001). Isovolumetric relaxation and contraction times and myocardial performance index were greater in fetuses of gestational diabetic mothers (p < 0.001). In fetuses of gestational diabetic mothers with myocardial hypertrophy, left atrial shortening fraction was lower as compared to those without myocardial hypertrophy and those of the control group (p < 0.001). CONCLUSIONS: The results of this study suggest that fetuses of gestational diabetic mothers have altered cardiac function even in the absence of septal hypertrophy, and that left atrial shortening fraction can be used as a reliable alternate parameter in the assessment of fetal diastolic function.

Accuracy of echocardiography in diagnosing total anomalous pulmonary venous return.

OBJECTIVE: Total anomalous pulmonary venous return is an uncommon cyanotic congenital heart defect. Echocardiography is the initial diagnostic tool. Complimentary non-invasive modalities like cardiac computerized tomographic angiography and cardiac magnetic resonance imaging have replaced the need for cardiac catheterization in difficult cases. This study aimed to determine the accuracy of echocardiography in diagnosing total anomalous pulmonary venous return, and to determine the factors that may decrease its sensitivity. METHODS: This was a cross-sectional study conducted at the Aga Khan University Hospital Karachi, Pakistan from January 2010 to August 2016. All patients who were diagnosed with Total anomalous pulmonary venous return on echocardiography and had subsequent confirmation either on cardiac CT angiography or surgery were included. The diagnostic accuracy of echocardiography was expressed as sensitivity. Previously described taxonomy was used to define diagnostic error. Univariate and multivariate analysis were done by logistic regression OR (95% CI) were reported to identify factors causing the diagnostic error. RESULTS: High diagnostic sensitivity (81%) was found in isolated total anomalous pulmonary venous return and low (27%) in heterotaxy and mixed (20%) varieties. Poor acoustic windows and right isomerism were found to be significant factors responsible for the diagnostic error on multivariate analysis. CONCLUSION: Echocardiography can diagnose isolated total anomalous pulmonary venous return with high accuracy. Use of additional modalities may be required for a complete diagnosis in cases with mixed variety, heterotaxy and poor acoustic windows.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

BACKGROUND: Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects. METHODS: We summarised the clinical, biochemical and molecular genetic investigation of an international cohort of affected individuals with RMND1 mutations. In addition, we reviewed all the previously published cases to determine the genotype-phenotype correlates and performed survival analysis to identify prognostic factors. RESULTS: We identified 14 new cases from 11 pedigrees that harbour recessive RMND1 mutations, including 6 novel variants: c.533C>A, p.(Thr178Lys); c.565C>T, p.(Gln189*); c.631G>A, p.(Val211Met); c.1303C>T, p.(Leu435Phe); c.830+1G>A and c.1317+1G>T. Together with all previously published cases (n=32), we show that congenital sensorineural deafness, hypotonia, developmental delay and lactic acidaemia are common clinical manifestations with disease onset under 2 years. Renal involvement is more prevalent than seizures (66% vs 44%). In addition, median survival time was longer in patients with renal involvement compared with those without renal disease (6 years vs 8 months, p=0.009). The neurological phenotype also appears milder in patients with renal involvement. CONCLUSIONS: The clinical phenotypes and prognosis associated with RMND1 mutations are more heterogeneous than that were initially described. Regular monitoring of kidney function is imperative in the clinical practice in light of nephropathy being present in over 60% of cases. Furthermore, renal replacement therapy should be considered particularly in those patients with mild neurological manifestation as shown in our study that four recipients of kidney transplant demonstrate good clinical outcome to date.

Assessment of Cardiac Function in Fetuses of Gestational Diabetic Mothers During the Second Trimester.

Fetuses of diabetic mothers may have structural or functional cardiac abnormalities which increase morbidity and mortality. Isolated functional abnormalities have been identified in the third trimester. The aim of the present study was to assess fetal cardiac function (systolic, diastolic, and global myocardial performance) in the second trimester in mothers with gestational diabetes, and also to relate cardiac function with glycemic control. Mothers with gestational diabetes mellitus referred for fetal cardiac evaluation in the second trimester (between 19 and 24 weeks) from March 2015 to February 2016 were enrolled as case subjects in this study. Non-diabetic mothers who had a fetal echocardiogram done between 19 and 24 weeks for other indications were enrolled as controls. Functional cardiac variables showed a statistically significant difference in isovolumetric relaxation and contraction times and the myocardial performance index and mitral E/A ratios in the gestational diabetic group (p = 0.003). Mitral annular plane systolic excursion was significantly less in the diabetic group (p = 0.01). The only functional cardiac variable found abnormal in mothers with poor glycemic control was the prolonged isovolumetric relaxation time. Functional cardiac abnormalities can be detected in the second trimester in fetuses of gestational diabetic mothers and timely intervention can improve postnatal outcomes.

Dissecting aneurysm of the interventricular septum due to rupture of the sinus of Valsalva.

Aneurysm of the sinus of Valsalva is a rare congenital cardiac anomaly. It occurs as an outpouching that progresses like a windsock, and it may rupture producing aortic regurgitation, cardiac tamponade, congestive heart failure, conduction abnormalities, and stroke. We describe a case of rupture of the sinus of Valsalva into the interventricular septum producing a large dissecting aneurysm. Despite the location, it did not produce a conduction abnormality.

Phosphine induced acute cardiotoxicity in children: A need for health awareness.

Aluminum Phosphate (AP) is a cheap and highly effective pesticide. Phosphine is the active pesticidal component which is highly toxic. Mortality is high and ranges between 40-70%. There is a desperate need for creating awareness. We report a case series with a mortality of 40% and emphasize the need for public awareness.

Midterm results of bovine jugular vein conduit for right ventricular outflow tract reconstruction.

OBJECTIVE: To evaluate the midterm results of Contegra conduit. METHODS: The retrospective study comprised patient record at Aga Khan University Hospital, Karachi, of conduits implanted between May 2007 and June 2012. Data collection was made from the clinical notes and from serial echocardiograms by a single cardiologist. The last followup echocardiography was done at the time of data collection in June 2012. SPSS 19 was used for statistical analysis. RESULTS: A total of 18 conduits had been implanted (16-22 mm) during the study period. Median age at the time of surgery was 9 years (range: 2.5-16 years). Early mortality was seen in 3 (16.66%) patients, but none was Contegra related. Of the remaining 15 patients, 2 (13.33%) with a diagnosis of Pulmonary Atresia-Ventricular Septal Defect with hypoplastic peripheral Pulmonary Arteries (PA), developed severe distal pressure gradient (50 mmHg) across Contegra over a median period of 18 months (range: 12-24 months), with resultant severe regurgitation and needed percutaneous intervention. There was no thrombosis, calcification, anuerysmal dilation or late deaths. CONCLUSION: At midterm followup, Contegra conduit was associated with low re-intervention rates with satisfactory haemodynamic results. However, long-term durability must be determined for this conduit, especially in patients with Pulmonary Atresia-Ventricular Septal Defect with hypoplastic peripheral Pulmonary Arteries.

Murmur and Doppler alternans in critical pulmonary stenosis.

Pulsus alternans is a well-recognized clinical entity in which alternating strong and weak pulses are detected. It usually is secondary to underlying myocardial failure. Murmur alternans (alternation in murmur intensity) has been described in aortic stenosis and a few right-sided lesions such as pulmonary hypertension and embolism. This report describes a case of murmur alternans in critical pulmonary stenosis that also showed Doppler alternans on echocardiography. The underlying cause was right ventricular systolic dysfunction.

Surgical rescue of embolized amplatzer devices.

BACKGROUND AND AIM: Transcatheter closure of atrial septal defect (ASD) and patent ductus arteriosus (PDA) with Amplatzer septal/duct occluder (ASO/ADO) is an established, safe, and efficient procedure with high success. However, device embolization remains a major complication requiring immediate intervention (either percutaneous or surgical) for retrieval and correction of the heart defect. The aim of this study is to share the experience of managing embolized ASO/ADO. METHODS: Of the 284 cases of device closure performed from October 2002 to December 2010, four patients (1.4%) had device embolization requiring immediate surgical retrieval. Two adult female patients with secundum ASD had ASO device implanted. One embolized to the right ventricle and the other into the ascending aorta. An eight-month-old boy and a four-year-old girl with hypertensive PDA had device closure. Device embolization occurred into the descending aorta and right pulmonary artery, respectively. RESULTS: All four devices were retrieved and the defects closed successfully with a low morbidity and no mortality. CONCLUSION: Careful consideration should be given to surgical or transcatheter closure of a heart defect. Life-threatening complications although rare can occur. Our experience strongly suggests that these devices should only be inserted in facilities where cardiac surgical support is immediately available.

Dual chamber pacemaker implants--a new opportunity in Pakistan for children with congenital and acquired complete heart block.

Implantation of cardiac pacemakers has been practiced for at least five decades with continuous developments of the hardware. The invention of dual chamber pacemakers has initiated a debate concerning its superiority over single chamber ventricular pacemakers. Throughout the world, surgeons have been using dual chambered permanent pacemakers with successful follow ups. However, Pakistan has not yet taken the advantage of such pacemaker devices till now. We report three cases that underwent a dual chamber permanent pacemaker implantation for the first time in children less than 8 kg with successful follow ups.

Surgical correction of aorto-pulmonary window: a rare and lethal cause of pulmonary hypertension.

Aorto-pulmonary window is a relatively rare congenital cardiac malformation with an overall incidence of 0.1%. Pulmonary hypertension develops quickly if the lesion is left untreated hence early surgical intervention is warranted after diagnosis. The surgery for correction of APW has evolved over years, currently an open repair on cardiopulmonary bypass (CPB) with a single patch technique yields good results. Mortality is affected by association of pulmonary hypertension and other cardiac malformations. We present a case of an infant with a large type II APW with a relatively low pulmonary vascular resistance. Hospital stay was complicated because of pulmonary arterial disease making it an important reason for correction in the first few months of life.

Kawasaki Shock Syndrome and Covid-19.

Kawasaki disease (KD) is a systemic vasculitis of unknown cause affecting children under 5 years of age. It is thought to be triggered by several viruses. Recently, Kawasaki-like disease has been reported worldwide in patients with COVID-19, giving rise to a new term of multi-system inflammatory syndrome in children (MIS-C). We report a case of a previously healthy 7-year boy, referred to our hospital with provisional diagnosis of measles due to generalised erythematous, maculopapular rash and conjunctivitis. On detailed evaluation, the patient fulfilled the clinical and laboratory criteria of MIS-C, and COVID-19 antibodies were positive. He was treated successfully with high dose of intravenous immunoglobulins (IVIG) and methylprednisolone. Patient was followed one week later with repeat echocardiography, which showed improvement. In conclusion, early recognition and timely treatment can prevent adverse outcomes in MIS-C. Key Words: COVID-19, Kawasaki disease, MIS-C.

Kawashima operation: functional modification of bidirectional Glen shunt with left superior vena cava in single ventricular morphology.

Single ventricle physiology offers limited options with significant morbidity and mortality. The Glenn shunt is a mid-stage procedure for the Fontan circulation. With persistent left Superior Vena Cava (SVC) and Azygos continuation of the Inferior Vena Cava (IVC) to the SVC, needs the development of bilateral bidirectional Glenn shunts. Fifteen patients underwent Bidirectional Glen shunt procedure over a period of ten years. Of these two were found to have left SVC along with interrupted IVC and its Azygos continuation to the SVC. These two patients underwent the Kawashima operation. A seven years old girl was admitted via emergency with severe cyanosis. She had tricuspid atresia, azygos continuation of IVC with single ventricle physiology. She had a complicated postoperative course with prolonged hospital stay after bilateral bidirectional Glen shunt (Kawashima operation). She successfully has completed Fontan after 5 years. The second case ofa 7 year old girl had elective surgery for DORV (double outlet right ventricle), pulmonary atresia and azygos continuation of IVC and persistent left SVC. She had an uneventful postoperative course. The Kawashima operation is an established surgical procedure to deal with bilateral SVCs. The procedure is safe; outcome is favourable and prepares the patient for total cavo-pulmonary shunt.

Clinical Screening for Congenital Heart Disease in Newborns at a Tertiary Care Hospital of a Developing Country.

OBJECTIVE: To screen all newborns admitted to a tertiary care hospital to rule out congenital heart disease before discharge and to find out the utility of pulse oximetry to detect congenital heart disease. METHODOLOGY: This prospective study was done at Aga Khan University Hospital from January 2014 to December 2014 in 1,650 newborns over a period of 12 months. Pulse oximetry and clinical examination were done. Persistent oxygen saturation less than 95% was considered as positive pulse oximetry. Newborns who had positive pulse oximetry or abnormal clinical examinations findings were subjected to echocardiography. RESULTS: Pulse oximetry was performed on 1,650 newborns, out of which 25 (1.5%) had congenital heart disease. Positive pulse oximetry cases were 16 (0.97%), out of which 10 had only positive pulse oximetry (negative clinical examination). Positive clinical examination cases were 45 (2.7%), out of which 39 cases had only positive clinical examinations (negative pulse oximetry). Six newborns had both positive pulse oximetry and positive clinical examination. Out of the 25 diagnosed cases of congenital heart disease, ventricular septal defect (VSD) was the most common congenital heart disease, followed by patent ductus arteriosus (PDA). The sensitivity, specificity, positive predictive value, and negative predictive value of pulse oximetry were 32%, 99.5%, 50%, and 98.9% respectively. CONCLUSION: In the community setting of a developing country, a combination of pulse oximetry screening and clinical examination are better at detecting congenital heart defects than either test alone.

Anomalous Left Coronary Artery from Pulmonary Artery: An Important Cause of Ischemic Mitral Regurgitation in Children.

INTRODUCTION:  Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly. The usual presentation in infancy is inconsolable crying or congestive cardiac failure, both due to myocardial ischemia. Survivors after infancy have improved left ventricular function but continue to have mitral regurgitation due to papillary muscle ischemia. The present study emphasizes the importance of unexplained mitral regurgitation as a clue to the diagnosis. PATIENTS AND METHODS:  Patients with the diagnosis of ALCAPA operated between June 2017 and May 2018 were enrolled. Their ages at diagnosis, electrocardiography, and echocardiography findings were noted. A selective angiogram of the right coronary artery was done in all. Results of surgical reimplantation were analyzed. Postoperative data were collected, including ventricular function and mitral regurgitation. RESULTS:  Six patients were included. Clinical signs of cardiac failure were present in two patients, and a systolic murmur was heard in all. The mean left ventricular ejection fraction was 52 ± 12%. Mitral regurgitation was present in all of the patients. The right coronary artery was dilated (Z score > 2.5) in all except one. Selective right coronary angiogram and cardiac computerized tomography angiogram (CTA) were performed in all. Coronary reimplantation was successfully done. Follow-up echocardiography showed improved left ventricular ejection fraction and degree of mitral regurgitation in all patients. CONCLUSION:  ALCAPA is an uncommon congenital anomaly, the diagnosis of which can be missed, particularly in late presenters. Unexplained mitral regurgitation should always raise the suspicion of this anomaly. Surgical intervention has excellent results with an improvement of left ventricular function and mitral regurgitation.

Modified Blalock-Taussig shunt: immediate and short-term follow-up results in neonates.

INTRODUCTION: The modified Blalock-Taussig shunt (MBTS) is the most commonly created systemic-pulmonary shunt in neonates with cyanotic heart disease. Morbidity and mortality after MBTS is associated with several factors including age, pulmonary artery diameter and the baseline cardiac anatomy. The objective of this research was to describe the immediate and short-term follow-up results of MBTS in Pakistani neonates. METHODS AND RESULTS: A retrospective review of patient charts was done to select 22 neonatal cases of various types of cyanotic heart diseases who had undergone MBTS creation from 1999 to 2005. Clinical and echocardiographic data were collected. Patients were followed up on their post-operative visits. Twenty-two neonates, 14 males and 8 females, mean age 11.2+/-6.9, underwent MBTS surgery during the six-year period of study. Pulmonary artery diameters were 3+/-0.2 and 2.9+/-0.2 for the right and left arteries, respectively. All patients received a 4mm Gor-Tex shunt through a postero-lateral thoracotomy approach. The mean duration of post-operative mechanical ventilation was 3.9+/-4.5 days. Three neonates (13.6%) died within one month of surgery while another three (13.6%) died after three months of surgery. Among these deaths, two were due to shunt occlusion/failure (9%) and the rest were due to non-cardiac causes. Another two patients underwent revision of surgery after shunt failure. Pulmonary atresia with intact interventricular septum was the most common cardiac anomaly in our series. CONCLUSIONS: The mortality rate in neonates is highest during the first post-operative month. Shunt thrombosis and occlusion can be sudden and fatal therefore coagulation profile should be carefully monitored especially in the peri-operative period. PA-IVS was the most common anatomical variant in our limited experience and had high morbidity and mortality rate after surgery.

Clinical profile and outcome of cyanotic congenital heart disease in neonates.

OBJECTIVE: To determine the clinical profile and assess the outcome of all neonates diagnosed with cyanotic congenital heart disease. STUDY DESIGN: A case series. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital from January 1998 to December 2000. PATIENTS AND METHODS: Neonates admitted with diagnosis of cyanotic congenital heart disease were evaluated for clinical diagnosis, survival and mortality. RESULTS: Forty four neonates met the inclusion criteria. Eleven babies (25%) had Tetralogy of Fallot or its variants. Other malformations were d-transposition of great arteries, tricuspid valve anomalies (tricuspid atresia and Ebstein's anomaly), hypoplastic left heart syndrome, truncus arteriosus, total anomalous pulmonary venous return and complex congenital heart disease like single ventricle. Twenty eight (63.6%) neonates survived and 16 (36.4%) expired during hospital stay. Cause of death was surgical in 2 cases and medical problems in 14 babies. CONCLUSION: Tetralogy of Fallot or variants was the commonest cyanotic heart disease in neonates with frequency of 27.27%. Majority of neonates with congenital cyanotic heart disease showed survival with appropriate management.

Congenitally Corrected Transposition of the Great Arteries in a Septuagenarian from the Developing Country of Pakistan.

Congenitally corrected transposition of the great arteries (CCTGA) is a rare congenital cardiac defect with atrioventricular and ventriculoarterial discordance which leads to heart failure and limits patients' lifespan. We report the case of a 70-year-old lady, from a poor province in Pakistan, who presented for the first time with palpitations and was diagnosed to have CCTGA. She had moderate pulmonic valve stenosis which was protective against heart failure. She had six children all born via spontaneous vertex delivery in her local village. This case exemplifies the fact that pulmonic stenosis is favourable for patients with CCTGA. In a country where the average life expectancy of females is only 68 years, the survival of our patient with CCTGA beyond the average lifespan is indeed interesting.