Unroofed coronary sinus, left-sided superior vena cava and mitral insufficiency: A case report and review of the literature.

Background: Unroofed coronary sinus (UCS) is a rare subtype of atrial septal defect. It is frequently associated with a persistent left superior vena cava and is often part of a more intricate cardiac malformation.

Case Summary: This report describes a rare case of an adolescent patient with UCS featuring atrial situs solitus, absence of the right superior vena cava and a persistent left superior vena cava draining into the left atrium consistent with total unroofing of the coronary sinus.

Double-outlet Right Atrium with Double-orifice Tricuspid Valve: Report of a Rare Case and Review of the Literature.

Double-outlet right atrium is an extremely rare congenital cardiac defect, in which the right atrium drains into both ventricles. Here in, we present a peculiar case involving an 8-year-old female with double-outlet right atrium characterized by three distinct atrioventricular valves and a membranous ventricular septal defect. This is associated with right atrium to left ventricular flow through the accessory atrioventricular valve while maintaining adequate size of the right ventricle.

Congenital heart disease research landscape in the Arab world: a 25-year bibliometric review.

Background: While research on congenital heart disease has been extensively conducted worldwide, comprehensive studies from developing countries and the Arab world remain scarce.

Aim: This study aims to perform a bibliometric review of research on congenital heart disease in the Arab world from 1997 to 2022.

Methods: We analyzed data from the Web of Science, encompassing various aspects such as topics, countries, research output, citations, authors, collaborations, and affiliations.

Cardiac manifestations and short-term outcomes of multisystem inflammatory syndrome in Middle Eastern children during the COVID-19 pandemic: a case series.

We herein report on a series of four patients presented to our tertiary care centre with features of multisystem inflammatory syndrome in children and cardiac involvement. Two of our patients had recent exposure to a COVID-19-positive patient, one had recent documented infection, and another had no known positive contact. All the patients were tested positive for severe acute respiratory syndrome coronavirus 2 immunoglobulin G antibody at the time of presentation.

Balloon Valvuloplasty for Congenital Aortic Stenosis: Experience at a Tertiary Center in a Developing Country.

Background: Aortic valve stenosis accounts for 3-6% of congenital heart disease. Balloon aortic valvuloplasty (BAV) is the preferred therapeutic intervention in many centers. However, most of the reported data are from developed countries.

Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy.

Background: Cardiac troponin I () gene mutations account for 3% of hypertrophic cardiomyopathy and carriers have a heterogeneous phenotype, with increased risk of sudden cardiac death (SCD). Only one mutation (p.Arg21Cys) has been reported in the N terminus of the protein.

Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia.

Valvular heart disease frequently occurs as a consequence of premature atherosclerosis in individuals with familial hypercholesterolemia (FH). Studies have primarily focused on aortic valve calcification in heterozygous FH, but there is paucity of data on the incidence of valvular disease in homozygous FH. We performed echocardiographic studies in 33 relatively young patients (mean age: 26 years) with homozygous FH (mean LDL of 447 mg/dL, 73% on LDL apheresis) to look for subclinical valvulopathy.

Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

Background: The familial inherited genetic disorder of lipoprotein metabolism affects more than 10 million individuals around the world. Lebanon is one of the several endemic areas for familial hypercholesterolemia (FH) with a founder mutation in the low-density lipoprotein cholesterol receptor (LDLR) gene, responsible for most of the cases. We have previously shown that 16% of all familial cases with hypercholesterolemia do not show genotype segregation of LDLR with the underlying phenotype.

The Muscle-Bound Heart.

Hypertrophic cardiomyopathy (HCM) is a familial cardiac disease manifested in a wide phenotype and diverse genotype and, thus, presenting unpredictable risks mainly on young adults. Extensive studies are being conducted to categorize patients and link phenotype with genotype for a better management and control of the disease with all its complications. Because the full mechanisms behind HCM are still not revealed, therapeutics are not definitive.

Incessant Long R-P Tachycardia.

A 13-year-old boy had a positive P wave in V1 with a negative P wave in lead I, aVL, and aVR, as well as a positive P wave in the inferior leads, which correlated with a left atrial appendage (LAA) atrial tachycardia (AT) focus. P-wave morphologies can provide clues regarding an AT's origin, and this P-wave negative in lead I favored LAA AT. Careful mapping along the atria and coronary sinus to determine the earliest site of activation for the surface P wave is a reliable method for precisely localizing the AT origin as a target for catheter ablation.

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

NKX2-5 mutations are associated with different forms of congenital heart disease. Despite the knowledge gained from molecular and animal studies, genotype-phenotype correlations in humans are limited by the lack of large cohorts and the incomplete assessment of family members. We hypothesized that studying the role of NKX2-5 in inbred populations with homogeneous genetic backgrounds and high consanguinity rates such as Lebanon could help closing this gap.

Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia.

Background: Intima-media thickness (IMT) is a well-described marker of cardiovascular disease. In this study we aim to determine whether low-density lipoprotein (LDL) levels and disease-related mutation status can predict IMT in patients with severe familial hypercholesterolemia (FH) referred for or on LDL apheresis.

Methods: Genetic screening, lipid profile testing, and IMT measurements were performed on a series of 33 severe FH patients (19 homozygous) on LDL apheresis treatments (LDL 447 ± 151 mg/dL, age range 6-60 years).

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.

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.

Absence of GJA1 gene mutations in four patients with anomalous left coronary artery from the pulmonary artery (ALCAPA).

Problem: 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 43alpha1 is a member of the gap junction family of proteins demonstrated by animal studies to have a role in coronary artery patterning during development.

The status of pediatric cardiology at a tertiary center in Lebanon.

Problem: Cardiac disease, both congenital and acquired, contributes significantly to morbidity and mortality in children.

Methods: 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.

Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation.

Familial hypercholesterolemia (FH) is an inherited disease characterized by the deposition of LDL in tissues causing premature atherosclerosis. Many genes are implicated in FH resulting in a large variability in the phenotype. DNA sequencing of the LDLR gene was done for forty patients clinically diagnosed with homozygous FH and forty family members variably affected.

Pulmonary hypertension in children and young adults with sickle cell disease: evidence for familial clustering.

Background: Pulmonary hypertension (PHTN) is increasingly recognized as a serious complication of sickle cell disease (SCD). Our objective was to determine the prevalence of PHTN and identify factors associated with PHTN among children and young adults with SCD in Lebanon.

Procedure: From June 2004 to June 2008, 90 patients were studied.

Effect of chronic hypoxia on leptin, insulin, adiponectin, and ghrelin.

The endocrine system plays an important role in the adaptation to hypoxia. The aim of this study was to assess the effect of chronic hypoxia on insulin, adiponectin, leptin, and ghrelin levels in a neonatal animal model. Sprague-Dawley rats were placed in a normobaric hypoxic environment at birth.

Apoptosis and the activity of ceramide, Bax and Bcl-2 in the lungs of neonatal rats exposed to limited and prolonged hyperoxia.

Background: The aim of the study is to examine the effect of limited and prolonged hyperoxia on neonatal rat lung. This is done by examining the morphologic changes of apoptosis, the expression of ceramide, an important mediator of apoptosis, the expression of inflammatory mediators represented by IL-1beta and the expression of 2 proto-oncogenes that appear to modulate apoptosis (Bax and Bcl-2).

Methods: Newborn rats were placed in chambers containing room air or oxygen above 90% for 7 days.

Regulation of the sphingolipid signaling pathways in the growing and hypoxic rat heart.

Sphingolipids (SLs) have a biomodulatory role in physiological as well as pathological cardiovascular conditions. This study aims to assess the variation of SL mediators and metabolizing enzymes in the growing and hypoxic rat heart. Sprague-Dawley rats were placed in a hypoxic environment at birth.

Long-term effects of acute and of chronic hypoxia on behavior and on hippocampal histology in the developing brain.

Ten-day-old rat pups (P10) subjected to acute hypoxia (down to 4% O2) had as adults increased aggression (handling test), memory impairment (water maze test), and decreased CA1 cell counts. Pups subjected to chronic hypoxia (10% O2 from P0 to P21) had increased aggression, hyperactivity (open-field test), and decreased CA1 cell counts. Chronic hypoxia with superimposed acute hypoxia resulted in consequences that were not different from those of chronic hypoxia.

Bilateral percutaneous stent implantation in the pulmonary vasculature: a modality now available in Lebanon.

We report a child with Truncus Arteriosus who developed bilateral proximal branch pulmonary stenosis, following total surgical repair of her condition with construction of the right ventricular outflow tract utilizing a Contegra conduit (Medtronic Inc., Minneapolis, Minn.).

Patterns of congenital heart disease in unoperated adults: a 20-year experience in a developing country.

Background: The number of patients with congenital cardiac disease reaching adulthood is increasing steadily. Many adults with such disease face both medical and surgical difficulties.

Hypothesis: This retrospective study was undertaken to assess the frequency and outcome of congenital heart disease (CHD) in unoperated adults.