Khalfan S. Al-Senaidi

Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review

Very long-chain acyl-CoA dehydrogenase deficiency (MIM 201475) is a severe defect of mitochondrial energy production from oxidation of very long-chain fatty acids. This inherited metabolic disorder often presents in early neonatal period with episodes of symptomatic hypoglycemia usually responding well to intravenous glucose infusion. These babies are often discharged without establishment of diagnosis but return by 2-5 months of age with severe and progressive cardiac failure due to hypertrophic cardiomyopathy with or without hepatic failure and steatosis. An early diagnosis and treatment with high concentration medium chain triglycerides based feeding formula can be life saving in such patients. Here, we report the first diagnosed and treated case of Very long-chain acyl-CoA dehydrogenase deficiency in Oman. This infant developed heart failure with left ventricular dilation, hypertrophy and pericardial effusion at the age of 7 weeks. Prompt diagnosis and subsequent intervention with medium chain triglycerides-based formula resulted in a reversal of severe clinical symptoms with significant improvement of cardiac status. This treatment also ensured normal growth and neurodevelopment. It is stressed that the disease must be recognized by the pediatricians and cardiologists since the disease can be identified by Tandem Mass Spectrometry; therefore, it should be considered to be included in expanded newborn screening program, allowing early diagnosis and intervention in order to ensure better outcome and prevent complications.

Cardiac tamponade due to umbilical venous catheter in the newborn.

With more and more extreme premature and very low-birth weight babies being resuscitated, umbilical central venous catheterisation is now being used more frequently in neonatal intensive care. The authors present a case of cardiac tamponade following umbilical venous catheterisation in a neonate, an uncommon, yet potentially fatal complication. The patient was diagnosed at the appropriate time by echocardiography and urgent pericardiocentesis proved lifesaving.

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

COX5A is a nuclear‐encoded subunit of mitochondrial respiratory chain complex IV (cytochrome c oxidase). We present patients with a homozygous pathogenic variant in the COX5A gene. Clinical details of two affected siblings suffering from early‐onset pulmonary arterial hypertension, lactic acidemia, failure to thrive, and isolated complex IV deficiency are presented. We show that the variant lies within the evolutionarily conserved COX5A/COX4 interface domain, suggesting that it alters the interaction between these two subunits during complex IV biogenesis. In patient skin fibroblasts, the enzymatic activity and protein levels of complex IV and several of its subunits are reduced. Lentiviral complementation rescues complex IV deficiency. The monomeric COX1 assembly intermediate accumulates demonstrating a function of COX5A in complex IV biogenesis. A potential therapeutic lead is demonstrated by showing that copper supplementation leads to partial rescue of complex IV deficiency in patient fibroblasts.

Complicated subacute bacterial endocarditis in a patient with ventricular septal defect.

Infective endocarditis (IE) is an uncommon but life-threatening infection. Despite advances in management, it still causes high morbidity and mortality. We report the case of an 8-year-old girl who presented with a prolonged fever of 2.5 months duration and a history of a small perimembranous ventricular septal defect. She was diagnosed with subacute bacterial endocarditis secondary to Streptococcus mutans. The patient developed a septic pulmonary embolism; however, with the use of appropriate antimicrobial therapy, she made an uneventful recovery. Clinicians should have a high index of suspicion for IE as the possible cause of a prolonged fever, especially in the presence of congenital heart disease (CHD). Currently, IE prophylaxis is not indicated for unrepaired acyanotic CHD. Nevertheless, with the new changes in the guidelines, more prospective studies are needed to investigate the incidence of IE in such lesions, before long-term conclusions can be drawn.

Echocardiography in PICU: when the heart sees what is invisible to the eye

OBJECTIVEnEchocardiography has become an indispensable bedside diagnostic tool in the realm of pediatric intensive care units (PICU). It has proven to be an influential factor in the formula of clinical decision-making. This study aimed to delineate the impact of echocardiography on the management of critically ill pediatric patients in the PICU at Sultan Qaboos University Hospital, Oman.nnnMETHODnThis was a retrospective cohort study conducted in a five-bed PICU. Patients admitted to the PICU from January of 2011 to December of 2012 were reviewed. Those who have undergone bedside echocardiography during their ICU stay were recruited. Electronic patient record was used as data source.nnnRESULTSnOver a-24-month period, 424 patients were admitted in this PICU. One hundred and one clinically indicated transthoracic echocardiograms were performed. 81.8% of these presented new findings (n=82) that significantly impacted the clinical decision of patient management, namely, alteration in drug therapy and procedure, whereas no difference in the management was yielded in the remaining 17.8% of the studied cases.nnnCONCLUSIONSnEchocardiography had a significant impact on the management of PICU patients. Such salutary effect was consequently reflected on the outcome. Pediatric intensivists are encouraged to acquire such bedside skill.

Changing Survival Rate of Infants Born Before 26 Gestational Weeks: Single-centre study

OBJECTIVESnThis study aimed to evaluate the changing survival rate and morbidities among infants born before 26 gestational weeks at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman.nnnMETHODSnThis retrospective study assessed the mortality and morbidities of all premature infants born alive at 23-26 gestational weeks at SQUH between June 2006 and May 2013. Infants referred to SQUH within 72 hours of birth during this period were also included. Electronic records were reviewed for gestational age, gender, birth weight, maternal age, mode and place of delivery, antenatal steroid administration, morbidity and outcome. The survival rate was calculated and findings were then compared with those of a previous study conducted in the same hospital from 1991 to 1998. Rates of major morbidities were also calculated.nnnRESULTSnA total of 81 infants between 23-26 gestational weeks were admitted to the neonatal unit during the study period. Of these, 58.0% were male and 42.0% were female. Median gestational age was 25 weeks and mean birth weight was 770 ± 150 g. Of the 81 infants, 49 survived. The overall survival rate was 60.5% compared to 41% reported in the previous study. Respiratory distress syndrome (100.0%), retinopathy of prematurity (51.9%), bronchopulmonary dysplasia (34.6%), intraventricular haemorrhage (30.9%) and patent ductus arteriosus (28.4%) were the most common morbidities.nnnCONCLUSIONnThe overall survival rate of infants between 23-26 gestational weeks during the study period had significantly improved in comparison to that found at the same hospital from 1991 to 1998. There is a need for the long-term neurodevelopmental follow-up of premature infants.

Echocardiographic Evidence of Early Diastolic Dysfunction in Asymptomatic Children with Osteogenesis Imperfecta.

OBJECTIVESnStructural and functional cardiovascular abnormalities have been reported in adults with osteogenesis imperfecta (OI); however, there is a lack of paediatric literature on this topic. This study aimed to investigate cardiovascular abnormalities in children with OI in comparison to a control group.nnnMETHODSnThis case-control study was conducted at the Sultan Qaboos University Hospital in Muscat, Oman, between May 2013 and August 2014. Data from eight patients with OI and 24 healthy controls were compared using conventional and tissue Doppler echocardiography (TDE).nnnRESULTSnThe OI group had significantly lower peak early mitral valve flow velocity (P = 0.027), peak a-wave reversal in the pulmonary vein (P = 0.030) and peak early diastolic velocity of the mitral valve and upper septum (P = 0.001 each). The peak late diastolic velocities of the mitral valve (P = 0.002) and the upper septum (P = 0.037) were significantly higher in the OI group; however, the peak early/late diastolic velocity ratios of the mitral valve (P = 0.002) and upper septum (P = 0.001) were significantly lower. Left ventricular dimensions and aortic and pulmonary artery diameters were larger in the OI group when indexed for body surface area. Both groups had normal systolic cardiac function.nnnCONCLUSIONnChildren with OI had normal systolic cardiac function. However, changes in myocardial tissue Doppler velocities were suggestive of early diastolic cardiac dysfunction. They also had increased left ventricular dimensions and greater vessel diameters. These findings indicate the need for early and detailed structural and functional echocardiographic assessment and follow-up of young patients with OI.

Congenital Giant Left Atrium with Severe Mitral Valve Regurgitation

A three-month-old male infant presented to the Royal Hospital, Muscat, Oman in April 2014 following two episodes of pneumonia. On presentation, the patient was not dysmorphic; however, he was tachycardic and tachypnoeic with severe respiratory distress. A pansystolic murmur was heard in his apex, radiating to the axilla. A chest examination showed bilateral wheezing and scattered crepitations. An abdominal examination revealed a soft abdomen with hepatomegaly (liver span of 12 cm), situated 4 cm below the right costal margin. n nEchocardiography and an angiographic volume-rendered reconstructed computed tomograph showed a giant left atrium measuring 7.4 × 4.7 cm [Figure 1]. The atrium had severe mitral valve regurgitation from poor coaptation of the mitral valve leaflets due to annulus dilation of 22 mm. The mitral valve apparatus and left atrial appendage were normal, excluding the associated left atrial appendage aneurysm. There was mild tricuspid valve regurgitation with a peak gradient of 90 mmHg (systemic blood pressure: 80/55 mmHg), indicating severe pulmonary hypertension. The left ventricle was moderately dilated—the left ventricular posterior wall dimension in diastole was 4 mm; the interventricular septum dimension in diastole was 4 mm; the left ventricular end diastolic dimension was 40 mm; and the left ventricular end systolic dimension was 18 mm. Normal ventricular systolic function was noted (ejection fraction: 62%). The right ventricle was compressed by the dilated left ventricle, with severe compression of the right atrium secondary to the dilated left atrium. The inferior vena cava and hepatic veins were dilated; however, the superior vena cava was compressed by the dilated left atrium with a mean gradient of 8 mmHg at its midportion. The dilated pulmonary veins drained normally to the left atrium. No intracardiac vegetation or thrombi were seen. These findings were confirmed by cardiac computed tomography (CT) angiography; severe compression of the left main bronchus was also observed [Figure 2]. The CT angiography also revealed a left atrial volume of 84 mL compared to a left ventricular volume of 10 mL. A chest radiograph of the infant revealed a persistent left-sided lung opacity [Figure 3]. Further abdominal ultrasonography and CT findings indicated eventration of the left hemidiaphragm with a raised spleen position corresponding to the opaque shadow seen on the chest radiograph. A diagnosis of a congenital giant left atrium (CGLA) was made. n n n nFigure 1A & B: n nA: Four chamber echocardiograph showing a giant congenital left atrium (white arrow) severely compressing the right atrium (red arrow) in a three-month-old male infant. B: Volume-rendered reconstructed computed tomography angiograph showing the giant ... n n n n n nFigure 2A & B: n nA: Axial computed tomography (CT) angiograph showing a giant congenital left atrium (black arrow) with left upper lobe and segmental right lower lobe atelectasis (red arrows) in a three-month-old male infant. B: Maximum-intensity CT angiograph projection ... n n n n n nFigure 3: n nFrontal chest radiograph of a three-month-old male infant with congenital giant left atrium showing a persistent left-sided lung opacity (arrow). This was determined by ultrasonography and computed tomography to be a raised spleen caused by eventration ... n n n nDespite cardiac anti-failure medications and inotropic support, a high-risk operation was performed to repair the mitral valve due to the cardiac findings and prolonged intubation. A posterior annuloplasty and a posterior left atrial wall excision were also carried out concurrently. The diagnosis of CGLA was confirmed during the course of the surgery. Following the operation, the left atrial dilation improved and the right ventricular systolic pressure decreased to 30 mmHg (estimated from the tricuspid valve regurgitation jet). Unfortunately, the moderate mitral valve regurgitation continued postoperatively and the infant died two weeks later due to severe cardiorespiratory compromise.

Transcatheter Closure of Ruptured Sinus of Valsalva Aneurysm : Report of two cases

A ruptured sinus of Valsalva aneurysm (RSVA) is a rare cardiac anomaly. Traditionally, RSVAs were repaired surgically; however, percutaneous transcatheter closure is the current treatment of choice. We report two cases of RSVA which were closed using this approach. The first case was a 45-year-old female who presented to the Royal Hospital, Muscat, Oman, in 2014 with a RSVA in the right ventricle. The second case was a 39-year-old male who was admitted to the Sultan Qaboos University Hospital, Muscat, in 2015 with a large multifenestrated RSVA extending into the right ventricle outflow tract. Each patient underwent transcutaneous cardiac catheterisation using three-dimensional echocardiography. Both interventions were technically successful; however, the second patient required a subsequent surgery due to the continuing presence of a significant shunt. Transcatheter closure of RSVAs is an effective alternative to surgical repair, although large multifenestrated RSVAs should be repaired surgically to ensure complete closure.

Artigo originalEchocardiography in PICU: when the heart sees what is invisible to the eyeEcocardiografia na UTIP: quando o coração vê o que é invisível aos olhos☆

Objective nEchocardiography has become an indispensable bedside diagnostic tool in the realm of pediatric intensive care units (PICU). It has proven to be an influential factor in the formula of clinical decision‐making. This study aimed to delineate the impact of echocardiography on the management of critically ill pediatric patients in the PICU at Sultan Qaboos University Hospital, Oman.