status of pediatric cardiology at a tertiary center in Lebanon

Cardiac disease, both congenital and acquired, contributes significantly to morbidity and mortality in children. This article describes the status of pediatric cardiology at the Children's Heart Center in the American University of Beirut Medical Center. It addresses the available clinical services as well as the research and educational activities that are present at a tertiary center in Lebanon, a developing country with a population of 4 million. Lebanon has witnessed major developments in the field of pediatric cardiology over the past few years. About 650 babies are born with heart disease every year, with more than 425 needing treatment. Nearly all types of interventional catheterization procedures are currently being performed. About 300 open and closed pediatric cardiac surgeries are performed per year in Lebanon. In 2008, the in-hospital surgical mortality rate at our center was 2.6%, reflecting the good level of care in the treatment of children with congenital heart disease [CHD] in Lebanon. Basic research in the field of pediatric cardiology is emerging at our center. Our team has been studying the effect of chronic hypoxemia on the neonatal myocardium in an animal model of chronic hypoxia, as well as the study of molecular basis of CHD. Appropriate identification of cardiac disease, its epidemiology, and outcome is of utmost importance in guiding adequate care. Centralization of facilities is important to improve results and level of care

Absence of GJA1 gene mutations in four patients with anomalous left coronary artery from the pulmonary artery [ALCAPA]

Anomalous left coronary artery from the pulmonary artery [ALCAPA] is a rare form of congenital heart disease with no known genetic cause. It is usually diagnosed within the first year of life ; it results in myocardial cell death, congestive heart failure and lethality if left untreated. Connexin 43 alpha 1 is a member of the gap junction family of proteins demonstrated by animal studies to have a role in coronary artery patterning during development. No previous studies have investigated the role of this gene in patients with ALCAPA. We forth herein describe the clinical presentation of four patients who presented to the Children's Heart Center at AUBMC and had the final diagnosis of ALCAPA. Screening the GJA1 gene coding for connexin 43 alpha 1 was undertaken. No mutations were found in the patients or their parents, except for one polymorphism in one of the parents in the 3' untranslated region. All four patients underwent surgical repair with excellent outcome. This paper raises the awareness of this rare condition enabling physicians to reach the adequate diagnosis which will allow early surgical intervention and better prognosis. Our patient sample did not exhibit any evidence of association between connexin 43 alpha 1 and the clinical phenotype