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Progressive Cardiac Conduction Defect
Progressive cardiac conduction defect (PCCD) is a rare inherited degenerative disease of a heart's electrical conduction system. Over time PCCD can lead to a complete heart block and might require a pacemaker implantation to treat it. Genetics Most commonly PCCD is inherited as a autosomal dominant defect and is caused by mutations of chromosome 19q13.3 and in SCN5A, SCN1B and TRPM4 Transient receptor potential cation channel subfamily M member 4 (hTRPM4), also known as melastatin-4, is a protein that in humans is encoded by the TRPM4 gene. TRPM4 Channel Blocker * 9-Phenanthrol * TRPM4-IN-5 See also * TRPM TRPM is a family ... genes. References External links Familial progressive cardiac conduction defect on orpha Congenital disorders Heart diseases {{circulatory-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electrical Conduction System Of The Heart
The cardiac conduction system (CCS) (also called the electrical conduction system of the heart) transmits the signals generated by the sinoatrial node – the heart's pacemaker, to cause the heart muscle to contract, and pump blood through the body's circulatory system. The pacemaking signal travels through the right atrium to the atrioventricular node, along the bundle of His, and through the bundle branches to Purkinje fibers in the walls of the ventricles. The Purkinje fibers transmit the signals more rapidly to stimulate contraction of the ventricles. The conduction system consists of specialized heart muscle cells, situated within the myocardium. There is a skeleton of fibrous tissue that surrounds the conduction system which can be seen on an ECG. Dysfunction of the conduction system can cause irregular heart rhythms including rhythms that are too fast or too slow. Structure Electrical signals arising in the SA node (located in the right atrium) stimulate the atr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SCN1B
Sodium channel subunit beta-1 is a protein that in humans is encoded by the ''SCN1B'' gene. Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics. upplied by OMIMref name="entrez" /> Clinical significance Mutation in the SCN1B gene are associated with disorders such as Brugada syndrome, Dravet Syndrome, and GEFS. See also * Sodium channel Sodium channels are integral membrane proteins that form ion channels, conducting sodium ions (Na+) through a cell's membrane. They belong to the superfamily of cation channels and can be classified according to the trigger that opens the channel ... References Further reading * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TRPM4
Transient receptor potential cation channel subfamily M member 4 (hTRPM4), also known as melastatin-4, is a protein that in humans is encoded by the TRPM4 gene. TRPM4 Channel Blocker * 9-Phenanthrol * TRPM4-IN-5 See also * TRPM TRPM is a family of transient receptor potential ion channels (''M'' standing for '' wikt:melastatin''). Functional TRPM channels are believed to form tetramers. The TRPM family consists of eight different channels, TRPM1–TRPM8. Unlike the TRPC ... References Further reading * * * * * * External links * Ion channels {{membrane-protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
