Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome

Left heart catheterization is an invasive diagnostic procedure used to evaluate the function and structure of the left side of the heart. It is generally performed to diagnose and treat cardiovascular conditions such as valve abnormalities, coronary artery disease, and congenital heart defects.Diagnostic and therapeutic purposesLeft heart catheterization serves various diagnostic and therapeutic purposes, including:Assessing coronary artery bypass grafts.Evaluating coronary artery disease in...

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...

The human heart is made up of three layers of tissue that are surrounded by the pericardium, a membrane that protects and confines the heart. The outermost layer, closest to the pericardium, is the epicardium. The pericardial cavity separates the pericardium from the epicardium. Beneath the epicardium is the myocardium, the middle layer, and the endocardium, the innermost layer. There are four chambers of the heart: the right atrium, the right ventricle, the left atrium, and the left ventricle.

Atoms and Molecules

All living things are formed mostly of carbon compounds called organic compounds. The category of organic compounds includes both natural and synthetic compounds that contain carbon. Although a single, precise definition has yet to be identified by the chemistry community, most agree that a defining trait of organic molecules is the presence of carbon as the principal element, bonded to hydrogen and other carbon atoms. However, some carbon-containing compounds such as carbonates, cyanides, and...

Pure substances consist of only one type of matter. A pure substance can be an element or a compound. An element consists of only one type of atom, while a compound consists of two or more types of atoms held together by a chemical bond.
Elements
Elements are classified as atomic or molecular based on the nature of their basic units. They are unique forms of matter with specific chemical and physical properties that cannot break down into smaller substances by ordinary chemical reactions. There...