Familial dilated cardiomyopathy in a child: a case report.

BACKGROUND: Dilated cardiomyopathy (DCM) commonly leads to heart failure (HF) and represents the most common indication for cardiac transplantation in the pediatric population. Clinical manifestations of DCM are mainly the symptoms of heart failure; it is diagnosed by EKG, chest x-ray and echocardiography. For the idiopathic and familial diseases cases of DCM, there are no definite guidelines for treatment in children as they are treated for prognostic improvement. CASE PRESENTATION: We report the case of a 2-year-old girl diagnosed with dilated cardiomyopathy associated with homozygous mutation in the Myosin Light Chain 3 gene admitted for edema in lower extremities, muscle weakness, lethargy and vomiting, and she was found to be in cardiogenic shock. Chest x-ray showed cardiomegaly and EKG showed first degree atrioventricular block. Echocardiogram showed severe biventricular systolic and diastolic dysfunction. After 70 days of hospitalization, the patient went into cardiac arrest with cessation of electrical and mechanical activity of the heart, despite cardiopulmonary resuscitative efforts. CONCLUSION: Although rare, pediatric DCM carries a high risk of morbidity and mortality and a lack of curative therapy.

Mitochondrial depletion syndrome type 3: the Lebanese variant.

Introduction: Mitochondrial DNA depletion syndrome type 3 is an emerging disorder linked to variants in the deoxyguanosine kinase gene, which encodes for mitochondrial maintenance. This autosomal recessive disorder is frequent in the Middle East and North Africa. Diagnosis is often delayed due to the non-specificity of clinical presentation with cerebro-hepatic deterioration. The only therapeutic option is liver transplantation, although the value of this remains debatable. Methods: We describe the clinical, biochemical, and molecular profiles of Lebanese patients with this rare disorder. We also present a review of all cases from the Middle East and North Africa. Results: All Lebanese patients share a unique mutation, unreported in other populations. Almost half of patients worldwide originate from the Middle East and North Africa, with cases reported from only 7 of the 21 countries in this region. Clinical presentation is heterogeneous, with early-onset neurological and hepatic signs. Liver failure and lactic acidosis are constants. Several variants can be identified in each population; a unique c.235C>T p. (Gln79*) pathogenic variant is found in Lebanese patients. Outcome is poor, with death before 1 year of age. Conclusion: The pathogenic nonsense variant c.235C>T p. (Gln79*) in the deoxyguanosine kinase gene may be considered a founder mutation in Lebanon. Further genotypic delineation of this devastating disorder in populations with high consanguinity rates is needed.

Acute Kidney Injury Post-cardiac Surgery in Infants and Children: A Single-Center Experience in a Developing Country.

Introduction: The incidence of acute kidney injury (AKI) in pediatric patients following cardiac surgery varies between 15 and 64%, with a mortality rate of 10-89% among those requiring dialysis. This variation in the incidence and mortality of AKI across studies is probably due to the inconsistent definitions used for AKI. The purpose of this study is to present our experience with AKI post-cardiac surgery with emphasis on predisposing or aggravating factors. Patients and Methods: We evaluated the incidence of AKI using the KDIGO criteria in 150 infants and children undergoing cardiac surgeries between 2015 and 2017. Post-operatively, all patients were admitted to the pediatric intensive care unit (PICU) at a tertiary care center in a developing country. This is a retrospective chart review in which data collected included age, gender, type of heart disease, prior cardiac surgeries, RACHS-1 category, and pre- and post-operative creatinine levels. Neonates were not included in this study. Results: Six percent of the studied patients were below 1 year of age, 84% 1-10 years, and 10% 10-18 years. Fourteen patients (9.3%) developed AKI. Patients with cyanotic heart disease were more prone to develop AKI (78%) compared to those with non-cyanotic heart disease (44%). Children with AKI had a higher length of stay in PICU, 2.56 ± 1.44 vs. 4 ± 2.66 (p- 0.02). Serum lactic acid was higher in patients who developed AKI with a mean value of 6.8 ± 6.9 vs. 2.85 ± 1.55 mmol/l in the non-AKI group (p- 0.03). Lower hemoglobin levels and hyperlactic acidemia were significantly more prevalent in the AKI group. There were five deaths in this series (3.3%), and four of those (80%) were in the AKI group. Conclusion: Using the KDIGO criteria, the incidence of AKI in infants and children following cardiac surgery was 9.3%. This is slightly lower than in previously published studies where the range was between 15 and 64%. Children with cyanotic cardiac disease, hyperlactic acidemia, and anemia were more prone to developing AKI. Identifying patients at risk might help decrease the risk of post-operative AKI.

Cardiac involvement in a child post COVID-19: a case from Lebanon.

We report on an 8-year-old boy, who presented to the emergency department at our institution with fever, generalised oedema and hypotension. Investigations revealed anaemia, thrombocytopenia in addition to elevated serum inflammatory markers, a negative COVID-19 PCR test and a positive COVID-19 IgG. His echocardiography was consistent with carditis in otherwise morphologically normal heart with depressed cardiac function, moderate-to-severe mitral valve regurgitation, moderate tricuspid regurgitation with an estimated right ventricular systolic pressure half systemic, trace aortic regurgitation, bilateral small pleural effusions, distended inferior vena cava and normal coronaries. He was started on inotropic support, intravenous immunoglobulin and methylprednisolone, and was transferred to the paediatric intensive care unit. To the best of our knowledge, this was the first case of multisystem inflammatory syndrome in children encountered in Lebanon. The presentation and management were thoroughly described in this article aiming to share our experience and to contribute to the rapidly emerging literature on this syndrome.

Establishing a High-Quality Congenital Cardiac Surgery Program in a Developing Country: Lessons Learned.

Background: Developing countries are profoundly affected by the burden of congenital heart disease (CHD) because of limited resources, poverty, cost, and inefficient governance. The outcome of pediatric cardiac surgery in developing countries is suboptimal, and the availability of sustainable programs is minimal. Aim: This study describes the establishment of a high quality in-situ pediatric cardiac surgery program in Lebanon, a limited resource country. Methods: We enrolled all patients operated for CHD at the Children's Heart Center at the American University of Beirut between January 2014 and December 2018. Financial information was obtained. We established a partnership between the state, private University hospital, and philanthropic organizations to support the program. Results: In 5 years, 856 consecutive patients underwent 993 surgical procedures. Neonates and infants constituted 22.5 and 22.6% of our cohort, respectively. Most patients (82.6%) underwent one cardiac procedure. Our results were similar to those of the Society of Thoracic Surgeons (STS) harvest and to the expected mortalities in RACHS-1 scores with an overall mortality of 2.8%. The government (Public) covered 43% of the hospital bill, the Philanthropic organizations covered 30%, and the Private hospital provided a 25% discount. The parents' out-of-pocket contribution included another 2%. The average cost per patient, including neonates, was $19,800. Conclusion: High standard pediatric cardiac surgery programs can be achieved in limited-resource countries, with outcome measures comparable to developed countries. We established a viable financial model through a tripartite partnership between Public, Private, and Philanthropy (3P system) to provide high caliber care to children with CHD.

Correction to: A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect.

The original version of this article unfortunately contained a mistake in the author name. The first author name should be Manal Fardoun instead of Manal Fardon. The original article has been corrected.

A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect.

Congenital heart defects (CHDs) are the leading cause of death in infants under 1 year of age. Aberrations in the expression and function of cardiac transcription factors (TFs) are a major contributor to CHDs. Despite the numerous studies undertaken to functionally characterize these TFs, their exact role in different stages of cardiogenesis is still not fully elucidated. Here we focused on HEY2, a basic helix loop helix transcriptional repressor, and its potential role in human ventricular septal defects. Genetic analysis was performed based on sequencing of DNA and cDNA obtained from post-operational cardiac tissues and blood of 17 Lebanese patients with various CHDs. The screen covered the entire coding regions of the GATA4, NKX2.5, TBX5, TBX20 and HEY2 genes. Our results revealed two novel somatic mutations, namely p.Ala229Thr and p.161_190 del, affecting HEY2 in the diseased cardiac tissues of two patients with VSD. These results suggest a potential role of HEY2 in regulating ventricular septation in humans.

Establishing an ECMO program in a developing country: challenges and lessons learned.

AIM: The ECMO (extracorporeal membrane oxygenation) Program at the American University of Beirut Medical Center was established in November 2015 as the first program serving adult and pediatric population in a low-resource setting. The aim of the study is to describe the challenges faced during the establishment of the program and factors leading to its success. METHODS: The program establishment is described. The preparation phase, included the strategic, financial, and clinical planning by administration, nursing, and a multidisciplinary team of physicians. The training and education phase included all the involved nurses, perfusionists, and physicians. Concerns were heard from various stakeholders, and the challenges were analyzed and discussed. RESULTS: The preparation committee chose the adequate equipment, responded to the concerns, defined roles and responsibilities through credentialing and privileging, wrote policies and protocols, and established a strategy to decide for the ECMO indication. Selected team of nurses, physicians, and perfusionists are identified and trained locally, and abroad. A full-time ECMO physician was recruited to launch the program. Twelve patients (6 adults, 3 children, and 3 neonates) were supported by ECMO, for cardiac and respiratory indications. Eleven patients were supported by veno-arterial ECMO, and 1 patient (a neonate) with veno-venous ECMO. Overall, 75% survived to decannulation and 41% survived to discharge. CONCLUSION: With limited human and financial resources, new ECMO centers need to carefully establish selection criteria that may differ from those used in developed countries. Indications should be discussed on a case by case basis, taking into account clinical, social, and financial issues. This experience might help other institutions in developing countries to build their own program despite financial and human limitations.

Spirituality among parents of children with cancer in a Middle Eastern country.

PURPOSE: Family caregivers of children with cancer face emotional, psychological, and spiritual challenges coping with their child's illness. For ensuring comprehensive multidisciplinary pediatric care, there is a need to understand and define what spirituality means for them in relation to their child's illness. The purpose of this study is to understand the meaning of spirituality for parents of cancer patients in Lebanon. METHODS: This qualitative study followed the Heideggerian interpretive phenomenological method. Through purposeful sampling, 11 parents (mother or father) of children with cancer receiving treatment at a tertiary care center in Beirut, Lebanon were interviewed. Data were analyzed following the hermeneutical process as described by Diekelmann and Ironside (1998). RESULTS: A constitutive pattern and overarching theme, "spirituality is a two-level relationship. It is a relation with God and with people. It is the act of receiving and giving back" and five major themes emerged from the data. These were "Being there for me; " "Connectedness with other parents is a blessing and a torment; " "The power of knowing; " "Communication with Unknown" and "Spirituality is not religiosity". CONCLUSION: Lebanese parents of children with cancer defined the elements of their own spirituality. Relational aspects dominated and communication was an important factor. IMPLICATIONS FOR PRACTICE: This is the first study in the Middle East to address the meaning of spirituality in this population, and would pave the way for a customized palliative care program and integrative approach to patient care.

Device-associated infections in the pediatric intensive care unit at the American University of Beirut Medical Center.

INTRODUCTION: Device-associated healthcare-associated infections (DA-HAIs) are the principal threat to patient safety in intensive care units (ICUs).  The primary objective of this study was to identify the most common DA-HAIs in the pediatric intensive care unit (PICU) at the American University of Beirut Medical Center (AUBMC). Length of stay (LOS) and mortality, antimicrobial resistance patterns, and suitability of empiric antibiotic choices for DA-HAIs according to the local resistance patterns were also studied. METHODOLOGY: This was a retrospective study that included all patients admitted to the PICU at AUBMC between January 2007 and December 2011. All patients admitted to the PICU having a placed central line, an endotracheal tube, and/or a Foley catheter were included. Data was extracted from the patients' medical records through chart review. A total of 22 patients were identified with 25 central line-associated bloodstream infections (CLABSI), 25 ventilator-associated pneumonia (VAP), and 9 catheter-associated urinary tract infections (CAUTIs). The causing organisms, their resistance patterns, and the appropriateness of empiric antimicrobial therapy were reported. RESULTS: Gram-negative pathogens were found in 53% of the DA-HAIs, Gram-positive ones in 27%, and fungal organisms in 20%. A total of 80% of K. pneumonia isolates were extended-spectrum beta-lactamases (ESBL) producers, and 30% of Pseudomonas isolates were multidrug resistant. No methicillin-resistant Staphylococcus aureus (MRSA) or vancomycin-resistant enterococci (VRE) were isolated. Based on culture results, the choice of empiric antimicrobial therapy was appropriate in 64% of the DA-HAIs. CONCLUSIONS: After the care bundle approach is adopted in our PICU, DA-HAIs are expected to decrease further.

Dietary Zinc Intake and Plasma Zinc Concentrations in Children with Short Stature and Failure to Thrive.

BACKGROUND: The burden of zinc deficiency on children includes an increased incidence of diarrhea, failure to thrive (FTT) and short stature. The aim of this study was to assess whether children with FTT and/or short stature have lower dietary zinc intake and plasma zinc concentrations compared to controls. METHODS: A case-control study conducted at the American University of Beirut Medical Center included 161 subjects from 1 to 10 years of age. RESULTS: Cases had a statistically significant lower energy intake (960.9 vs. 1,135.2 kcal for controls, p = 0.010), lower level of fat (30.3 vs. 36.5 g/day, p = 0.0043) and iron intake (7.4 vs. 9.1 mg/day, p = 0.034). There was no difference in zinc, copper, carbohydrate and protein intake between the 2 groups. The plasma zinc concentration did not differ between the cases and controls (97.4 vs. 98.2 µg/dl, p = 0.882). More cases had mild-to-moderate zinc deficiency when compared to controls with 10.3 vs. 3.6%, p = 0.095. CONCLUSION: Our study did not show statistically significant difference in dietary zinc intake and plasma zinc concentrations between children with FTT and/or short stature compared to healthy controls. A prospective study is planned to assess the effect of zinc supplementation on growth parameters in FTT children.

Acute acalculous cholecystitis in a Lebanese girl with primary Epstein-Barr viral infection.

Acute acalculous cholecystitis (AAC) constitutes 5-10% of all cases of cholecystitis in adults, and is even less common in children. The recent literature has described an association between primary Epstein-Barr virus (EBV) infection and AAC, however, it still remains an uncommon presentation of the infection. Most authors advise that the management of AAC in patients with primary EBV infection should be supportive, since the use of antibiotics does not seem to alter the severity or prognosis of the illness. Furthermore, surgical intervention has not been described as necessary or indicated in the management of uncomplicated AAC associated with EBV infection. We report a case of a 16-year-old Lebanese girl with AAC associated with primary EBV infection. She presented to the emergency department, with high-grade fever, fatigue, vomiting and abdominal pain. Liver enzymes were elevated with a cholestatic pattern, and imaging confirmed the diagnosis of AAC. She was admitted to the regular floor, and initial management was conservative. Owing to persistence of fever, antibiotics were initiated on day 3 of admission. She had a smooth clinical course and was discharged home after a total of 9 days, with no complications.

Novel percutaneous femoral arterial-transthoracic approach for closure of ascending aortic pseudoaneurysm with a septal occluder device in a child.

Ascending aortic pseudoaneurysms are a rare complication following cardiac surgery. Their traditional surgical management carries high morbidity and mortality, especially in patients with multiple comorbidities. Transcatheter closure of these pseudoaneurysms using a septal occluder device has been previously reported in adults as an alternative approach with fewer complications. We report the first case of a novel percutaneous femoral arterial-transthoracic approach for exclusion of an ascending aortic pseudoaneurysm with an Amplatzer atrial septal occluder device in a 9-year-old child with Takayasu's arteritis.

The lived experience of parents of children admitted to the pediatric intensive care unit in Lebanon.

BACKGROUND: Family caregivers have a significant responsibility in the care of their child in the Pediatric Intensive Care Unit (PICU). Parents staying with their child in the PICU have particular needs that should be acknowledged and responded to by clinicians. Several studies have been conducted in the USA and Europe to try to understand the experience of family caregivers of children admitted to the Pediatric Intensive Care Unit. There are no such studies in Lebanon or the Middle East where the culture and support systems differ from other countries. OBJECTIVE: To understand the lived experience of Lebanese parents of children admitted to the PICU in a tertiary hospital in Beirut. DESIGN: Phenomenological study. METHODS: The study followed purposeful sampling in which 10 parents (mother or father) of children admitted to PICU were interviewed. Data were analyzed following the hermeneutical process as described by Diekelmann and Ironside (1998). RESULTS: A constitutive pattern "Journey into the unknown" which constitutes an overarching theme and four major themes with subthemes emerged from the data. These were: We are human beings with dignity "; "looking for a healthier environment"; Dependence on God and "The need to be in the loop" reveal the parents' journey into the unknown. CONCLUSION: This qualitative study adds to the knowledge that would help health care workers understand the experience of Lebanese parents with a child in PICU and to highlight the significance of this experience to them. The findings could be used to inform the development of a PICU parental satisfaction instrument for the sample group.

Congenital infantile fibrosarcoma: Association with bleeding diathesis.

PATIENT: Male, 2 month FINAL DIAGNOSIS: Congenital infantile fibrosarcoma Symptoms: Bleeding Medication: Vincristine • actinomycin • cyclophosphamide Clinical Procedure: Surgical resection Specialty: Pediatric Oncology. OBJECTIVE: Diagnostic/therapeutic accidents. BACKGROUND: Congenital infantile fibrosarcoma (CIF) is a soft-tissue tumor occurring during the first 2 years of life, most commonly in the extremities. CIF is frequently initially misdiagnosed as a vascular tumor, but its association with bleeding and coagulopathy has not been well characterized. CASE REPORTS: We describe 2 infants with CIF presenting with bleeding and coagulopathy, requiring urgent intervention. Both patients did well; one underwent partial resection followed by chemotherapy, and the other received 2 cycles of chemotherapy followed by gross total resection. We also provide a review of all reported cases of coagulopathy in the setting of CIF in the English literature, uncovering an association that seems to be more prevalent in patients diagnosed in the neonatal period, with associated anemia and thrombocytopenia, and a significant mortality rate. CONCLUSIONS: CIF needs to be considered in the differential diagnosis of vascular congenital tumors, especially when there is evidence of bleeding, anemia, or thrombocytopenia.

Dubowitz syndrome: common findings and peculiar urine odor.

BACKGROUND: Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, severe microcephaly, psychomotor retardation, hyperactivity, eczema, and characteristic dysmorphic facial features. Although many cases have been reported, the cause of this disease is still unknown. CASE: We present here the case of a Lebanese girl with Dubowitz syndrome in whom an unpleasant urine odor was persistently reported since birth. CONCLUSION: Although Dubowitz syndrome has been largely described in the medical literature, this is the first time that a peculiar urine odor was reported. This case report adds a new and unusual feature to the numerous findings related to this rare polymorphous syndrome.

Rupture of sinus of Valsalva aneurysm with aorto-biventricular fistulas and right-ventricular outflow tract obstruction: a unique association.

Sinus of Valsalva aneurysms are a rare entity. Rupture of such aneurysms is a major cause of aortocardiac fistulas usually occurring between the right sinus of Valsalva and right cardiac chambers. We report an exceptional case of a ruptured congenital sinus of Valsalva aneurysm with fistulas involving both the right- and left-ventricular outflow tracts and causing RVOT obstruction. We also demonstrate the utility of computed tomography angiography and transesophageal echocardiography in diagnosing these fistulas.

Inherited thrombophilia in childhood arterial stroke: data from Lebanon.

Pediatric ischemic stroke still represents a burden, and more than half of the survivors will experience cognitive or motor disabilities. The objective of this study was to investigate the role of thrombophilia in a cohort of children with arterial ischemic stroke. The records of infants and children with clinically and radiologically confirmed stroke were reviewed. Patients with venous or perinatal stroke were not included. Thirty-three patients were diagnosed with arterial ischemic stroke. The male/female ratio was 1.75:1. The median age was 4 years. The most frequent clinical manifestations were hemiparesis (54.5%) and seizures (33.3%). Genetic thrombophilia testing was available on 24 patients. Nine of the 24 patients (37.5%) were heterozygous for factor V Leiden. None of the patients carried the factor II G20210A variant. Ten patients (41.7%) were heterozygous and 3 (12.5%) were homozygous for methylenetetrahydrofolate reductase (MTHFR) C677T variant. Fifteen patients (62.5%) had one or more genetic polymorphism. Factor V Leiden was significantly associated with arterial ischemic stroke (P < 0.001). Stroke recurred in 2 children with multiple risk factors and MTHFR C677T mutation. Factor V Leiden is one of the major genetic risk factors for pediatric arterial ischemic stroke in Lebanon. MTHFR C677T was prevalent among patients with recurrent stroke.

Intestinal polypoid arteriovenous malformation: unusual presentation in a child and review of the literature.

AIM: We report a jejuno-jejunal intussusception with a polypoid arteriovenous malformation as a lead point in a 12-year-old boy, presenting with lower abdominal pain and non-bloody non-projectile vomiting. METHODS: A computed tomography scan of the abdomen and pelvis showed proximal jejuno-jejunal intussusception in the right upper quadrant. Exploratory laparotomy revealed a 5.5 × 2.5 × 2 cm polypoid mass within the wall of the jejunum. Consequently, jejunal segment resection was performed with end to end jejunostomy. Our case is distinctive because it involves a rare vascular lesion at an atypical site, the jejunum, in a child with an unusual presentation of intussusception treated surgically. CONCLUSION: Many paediatric benign and surgical conditions present with similar clinical symptoms; the physician in the emergency department should try to narrow the differential diagnosis and recognize surgical emergencies to avoid any delay in intervention that could be life-threatening.

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families' presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder.