[Show abstract][Hide abstract] ABSTRACT: Introduction:
Sarcoidosis is an uncommon multi-system disorder with many possible complications. Arteriovenous malformations (AVMs) are a rare vascular complication of sarcoidosis.
A 15-year-old girl presented to the Pediatric Clinic at AKUH with pulmonary, hepatic, joint, and skin manifestations. Physical examination and investigations pointed toward sarcoidosis, including raised erythrocyte sedimentation rate, angiotensin converting enzyme (ACE), and alanine transaminase (ALT). An incidental finding of pulmonary arteriovenous malformation (PAVM) was noticed on echocardiography. She responded to oral corticosteroids, her ACE and ALT levels improved. There was lack of indication for pulmonary angio-embolization for her PAVM. On a 3-year follow-up, her condition improved and she is clinically well.
Pulmonary arteriovenous malformation is an extremely rare complication of sarcoidosis, especially among the pediatric population. Hence, this is the first reported case of its kind. The relation between sarcoidosis and PAVM is difficult to establish; however, there are some theories. This condition may be treated depending on the symptoms. Since our patient did not have any significant symptoms of PAVM, she was treated for the underlying disease, i.e., sarcoidosis.
While dealing with patients having multi-system disorders like sarcoidosis, one must be very vigilant so as not to miss out on any complication. Regular follow-up visits should be scheduled to rule out new complications and to monitor the past ones.
Full-text · Article · Oct 2015 · Frontiers in Pediatrics
[Show abstract][Hide abstract] ABSTRACT: This study compares the effectiveness and cost of trans-catheter verses surgical closure of secundum atrial septum defect (ASD). ASD accounts for 10% of congenital cardiac defects. Trans-catheter closure of secundum ASD is increasingly used as the primary intervention. Surgical repair is advised in a proportion of secundum type defects which are unsuitable for device closure.
We reviewed the clinical course of 176 patients who underwent closure of isolated secundum ASD. The patients were assigned to either the device or surgical group depending upon the treatment they received. Successful closure was assessed immediately after the procedure. The following outcomes were studied: mortality, morbidity, hospital stay, and costs.
Ninety five patients were in the surgical group and 81 patients were in the group undergoing device closure. The median age was 14.0 years (range 1.1-61.0) for surgical group and 24.0 years (range 0.5-68.0) for the device group. The mortality in both groups was 0. The procedure success rate was 100% for the surgical group and 96.3% for the device group. The complication rate was 13.7% for surgical group and 7.4% for the device group. The mean length of hospital stay was 5.0 ± 2.7 days for surgical group and 3.0 ± 0.4 days for device group. The procedure cost for surgery was found to be 12.3% lower than that of trans-catheter closure.
Successful closure is achieved by both methods. Trans-catheter closure results in lower rate of complication and hospital stay but the cost of the procedure tends to be higher than surgery.
[Show abstract][Hide abstract] ABSTRACT: Abstract
Introduction: This study compares the effectiveness and cost of trans-catheter verses surgicalclosure of secundum atrial septum defect (ASD). ASD accounts for 10% of congenital cardiacdefects. Trans-catheter closure of secundum ASD is increasingly used as the primary intervention.Surgical repair is advised in a proportion of secundum type defects which are unsuitable fordevice closure.Methods: We reviewed the clinical course of 176 patients who underwent closure of isolatedsecundum ASD. The patients were assigned to either the device or surgical group depending uponthe treatment they received. Successful closure was assessed immediately after the procedure. Thefollowing outcomes were studied: mortality, morbidity, hospital stay, and costs.Results: Ninety five patients were in the surgical group and 81 patients were in the groupundergoing device closure. The median age was 14.0 years (range 1.1-61.0) for surgical groupand 24.0 years (range 0.5-68.0) for the device group. The mortality in both groups was 0. Theprocedure success rate was 100% for the surgical group and 96.3% for the device group. Thecomplication rate was 13.7% for surgical group and 7.4% for the device group. The mean lengthof hospital stay was 5.0 ± 2.7 days for surgical group and 3.0 ± 0.4 days for device group. Theprocedure cost for surgery was found to be 12.3% lower than that of trans-catheter closure.Conclusion: Successful closure is achieved by both methods. Trans-catheter closure results inlower rate of complication and hospital stay but the cost of the procedure tends to be higherthan surgery.
[Show abstract][Hide abstract] ABSTRACT: Background
Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have been recently described as the cause of Sengers syndrome in nine families.Methods
We investigated the clinical and molecular features of Sengers syndrome in seven new families; five families with the severe and two with the milder form.ResultsSequence analysis of AGK revealed compound heterozygous or homozygous predicted loss-of-function mutations in all affected individuals. A total of eight different disease alleles were identified, of which six were novel, homozygous c.523_524delAT (p.Ile175Tyrfs*2), c.424-1G¿>¿A (splice site), c.409C¿>¿T (p.Arg137*) and c.877¿+¿3G¿>¿T (splice site), and compound heterozygous c.871C¿>¿T (p.Gln291*) and c.1035dup (p.Ile346Tyrfs*39). All patients displayed perinatal or early-onset cardiomyopathy and cataract, clinical features pathognomonic for Sengers syndrome. Other common findings included blood lactic acidosis and tachydyspnoea while nystagmus, eosinophilia and cervical meningocele were documented in only either one or two cases. Deficiency of the adenine nucleotide translocator was found in heart and skeletal muscle biopsies from two patients associated with respiratory chain complex I deficiency. In contrast to previous findings, mitochondrial DNA content was normal in both tissues.Conclusion
We compare our findings to those in 21 previously reported AGK mutation-positive Sengers patients, confirming that Sengers syndrome is a clinically recognisable disorder of mitochondrial energy metabolism.
Full-text · Article · Aug 2014 · Orphanet Journal of Rare Diseases
[Show abstract][Hide abstract] ABSTRACT: Abstract
Anthracyclines (i.e., doxorubicin, daunorubicin) have significant impact on outcome in many pediatric
chemotherapy protocols and therefore remain the mainstay of treatment. The objective of
this study was to identify the risk factors for anthracycline induced cardiac dysfunction in pediatric
patients. Multiple logistic regression model was applied to assess the risk factors for development
of cardiac dysfunction. 110 pediatric oncology patients were available for final analysis. 75
(66%) children were males and mean age was 74 ± 44 months. ALL (n = 70, 64%) was the most
common primary diagnosis followed by lymphoma (n = 19; 17%) and AML (n = 12, 11%). Daunorubicin
alone or in combination with doxorubicin was used in (n = 94, 85%) patients and cumulative
dose < 300 mg was used in (n = 95; 86%) children. 24 (22%) children received radiation
therapy as per protocol and sepsis were observed in 47 (43%) cases. Post anthracycline, 15 (14%)
children had cardiac dysfunction within a month; out of them 10/15 (67%) had isolated diastolic
dysfunction, while 28 (25%) developed dysfunction within a year. 19 (17%) had pericardial effusion.
11 expired and out of them, 7 had significant cardiac dysfunction. Cumulative dose > 300
mg/m2 (p < 0.001; AOR 2.3), radiation therapy (p = 0.009; AOR 3.5) and sepsis (p = 0.002; AOR 2.6)
were found to be independent risk factors associated anthracycline induced cardiac dysfunction.
At univariant level use of daunorubicin alone or in combination therapy (p < 0.001, OR 7) and
mode of delivery (p 0.048, OR 9.7) were also found statistically significant. In conclusion anthracycline
induced cardiac dysfunction is mostly related to cumulative dose > 300 mg/m2, use of Daunorubicin
alone or in combination with doxorubicin, mode of delivery, radiation therapy and sepsis.
Regular long term follow-up with cardiologist is the key point for early diagnosis and therapy for a
long term survival.
Full-text · Article · Jun 2014 · World Journal of Cardiovascular Diseases
[Show abstract][Hide abstract] ABSTRACT: Total anomalous pulmonary venous drainage (TAPVD) accounts for approximately 1.5% of all congenital heart diseases. It is usually diagnosed in the neonatal period and is rarely seen in adults. We report an unusual case of a patient with TAPVD who was successfully treated at the age of 28 years. We believe that this is the oldest person in the South Asian literature to undergo surgical correction of TAPVD.
Full-text · Article · Nov 2013 · Annals of Medicine and Surgery
[Show abstract][Hide abstract] ABSTRACT: To evaluate the midterm results of Contegra conduit.
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.
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.
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.
Full-text · Article · Oct 2013 · Journal of the Pakistan Medical Association
[Show abstract][Hide abstract] ABSTRACT: The cause in 10 - 20% cases of liver cirrhosis (LC) cannot be elucidated, and are thus termed cryptogenic. Pulmonary arteriovenous malformations (PAVMs) are relatively rare, but the most common anomaly involving the pulmonary tree. Although the rare correlation between LC and PAVM is well-known, there have been no reports of PAVMs occurring in cryptogenic LC. We report a case of PAVM that occurred in cryptogenic liver cirrhosis in a 3 years old male child. The child presented with complaints of malena, hematemesis and variceal bleed. The examination revealed a child with respiratory distress, irritability, tachycardia, clubbing and abdominal distention. He was worked up for recurrent variceal bleeding secondary to portal hypertension but the oxygen saturation during hospital stay kept deteriorating. The diagnosis of hepatopulmonary syndrome as the cause of persistent hypoxemia in the absence of other cardio-pulmonary causes was then made by enhanced echocardiogram using agitated saline. He improved significantly after liver transplantation performed abroad. At a 6 months follow-up, the child was stable with no evidence of intrapulmonary shunting on repeat echo.
[Show abstract][Hide abstract] ABSTRACT: 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.
No preview · Article · Aug 2011 · Journal of the Pakistan Medical Association
[Show abstract][Hide abstract] ABSTRACT: 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.
[Show abstract][Hide abstract] ABSTRACT: Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD.
A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study.
Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD.
Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD.
No preview · Article · Jul 2011 · Annals of Pediatric Cardiology
[Show abstract][Hide abstract] ABSTRACT: 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.
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.
All four devices were retrieved and the defects closed successfully with a low morbidity and no mortality.
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.
No preview · Article · May 2011 · Journal of Cardiac Surgery
[Show abstract][Hide abstract] ABSTRACT: 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.
Full-text · Article · Apr 2011 · Journal of the Pakistan Medical Association
[Show abstract][Hide abstract] ABSTRACT: Background: The spectrum of infective endocarditis (IE) is significantly different in developed and developing countries. The present study was conducted to study the clinical profile and outcome of infective endocarditis in Pakistan. Methods: A descriptive cross-sectional study with review of medical records for 188 patients admitted to our teaching hospital with a diagnosis of IE from January 1988 to December 2001. One hundred fifty-nine subjects fulfilled the modified Duke diagnostic criteria. Results: Definite IE was found in 59.7% (95/159) patients, while the rest had possible IE. One-third of subjects had acute IE 55/159 (34.5%). Subacute IE was found in 62% (99/159) and Nosocomial IE in 3% of the cases. Eighty six (54%) were classified as having culture- negative endocarditis and 73 (46%) as culture positive. Ninty four patients (59%) had an underlying predisposing factor including congenital heart disease (31%) and rheumatic heart disease (21%). The most frequently isolated organisms were streptococci (52%) and followed by staphylococci (29%). Fourteen (8.1%) patients had right-sided cardiac involvement. Using univariate analysis, patients with heart failure, neurologic or renal complications, septicemia, nosocomial endocarditis, and prosthetic valve endocarditis were at increased risk of death (p ≤ 0.05), however no individual microorganism, or specific site, size, or morphology of vegetation seen on echocardiogram were significantly associated with death. Thirty-seven (23%) patients died of endocarditis or its complications. Conclusion: Endocarditis continues to be an important contributor to morbidity and mortality in Pakistan, especially in young adults. Our patients differ from the west in terms of epidemiology, predisposing factors, microbiology, complications, and outcome.
Full-text · Article · Apr 2009 · International Journal of Collaborative Research on Internal Medicine and Public Health
[Show abstract][Hide abstract] ABSTRACT: 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.
Full-text · Article · Feb 2009 · Journal of the Pakistan Medical Association
[Show abstract][Hide abstract] ABSTRACT: A large number of patients treated at our hospital for endocarditis have negative cultures. Taking into consideration the fact that many of these patients receive antibiotics prior to referral, we decided to study culture-negative endocarditis in Pakistan.
The medical records of all patients admitted to the Aga Khan University Hospital, Pakistan, for the period from 1988 to 2001, with an underlying diagnosis of infective endocarditis (IE) and negative cultures, were reviewed.
Of the 159 patients diagnosed with IE by revised Duke criteria, 86 (54.1%) had persistent negative cultures. More than half of these patients (52%) had received antibiotics before being referred to our center. Patients with culture-negative endocarditis were less likely to be classified as definite endocarditis by revised Duke criteria (p<0.001, 95% CI 0.07-0.3) or to have large vegetations (p=0.021, 95% CI 0.05-0.5), and more likely to have a mitral valve prolapse (p=0.003, 95% CI 1.6-2.3). Definite endocarditis (p=0.042, 95% CI 1.02-7.4), heart failure (p=0.008, 95% CI 1.4-12.7), renal failure (p=0.017, 95% CI 1.16-40.7), embolism (p=0.019, 95% CI 1.2-38.8), and neurological complications (p=0.02, 95% CI 1.16-9.2) were associated with an increased mortality.
Culture-negative endocarditis is very common among patients with IE in Pakistan. The presentation, laboratory findings, and complications are similar to those for culture-positive endocarditis. It is postulated that previous antibiotic treatment is the most common cause of culture-negative endocarditis in our hospital.
No preview · Article · Feb 2009 · International journal of infectious diseases: IJID: official publication of the International Society for Infectious Diseases
[Show abstract][Hide abstract] ABSTRACT: This study was undertaken to determine the diastolic Doppler echocardiographic correlates of pulmonary vascular resistance calculated on cardiac catheterization in patients with secondary pulmonary arterial hypertension. Thirty-eight consecutive patients with congenital heart disease, pulmonary artery hypertension and pulmonary regurgitation were studied. Continuous-wave Doppler-derived pulmonary artery diastolic gradients were measured at 3 points on the pulmonary regurgitant diastolic velocity slope: peak diastolic, end-diastolic (at the R wave on the electrocardiogram), and mid-diastolic (midway between the peak and end-diastolic points). Catheterization data included oximetry, measurements of pressure in the cardiac chambers and great arteries, and calculation of pulmonary vascular resistance index. Doppler-derived peak, mid, and end-diastolic pulmonary regurgitation gradients correlated best with catheterization-measured pulmonary artery systolic, mean and diastolic pressures, respectively. The best Doppler correlate of pulmonary vascular resistance index was the pulmonary artery end-diastolic gradient. Clinically useful information can be obtained from Doppler pulmonary artery diastolic gradients measured on the pulmonary regurgitant diastolic velocity slope, which can estimate the pulmonary arterial pressure as well as pulmonary vascular resistance obtained on cardiac catheterization.
No preview · Article · Jul 2008 · Asian cardiovascular & thoracic annals
[Show abstract][Hide abstract] ABSTRACT: Multiple congenital cardiac defects are usually addressed by cardiac surgery. We present our experience with simultaneous transcatheter treatment of multiple defects in children. Ten children, six females and four males, with multiple defects underwent treatment with interventional technique. The mean age was 4.4 +/- 2.6 years (range, 7 months to 8 years). The cardiac diagnosis was patent ductus arteriosus (PDA) and valvular pulmonary stenosis (PS) in two, atrial septal defect (ASD) and PDA in two, ASD and PS in two, PDA and aortic stenosis (AS) in three (severe left ventricular dysfunction in two), and perimembranous ventricular septal defect (VSD) and valvular PS in one. The ASDs were closed with an Amplatzer septal occluder (mean size, 16 +/- 4 mm), four PDAs were closed with an Amplatzer duct occluder, and three with a Cook's detectable coil. Mean balloon size used to dilate the pulmonary valve was 18 +/- 4 mm, and for the aortic valve this was 12 +/- 2 mm. There was a 70% (+/-15%) postprocedure reduction of gradients across the stenotic valves. The closure rate was 75% for PDAs in the catheterization laboratory, 80% for ASDs, and there was a mild residual intradevice leak in the VSD. In conclusion, interventional technology addressing multiple congenital cardiac defects as a combined procedure in the catheterization laboratory is safe and effective.
No preview · Article · Jun 2008 · Pediatric Cardiology