Short QT syndrome (SQTS) is a rare heart condition characterized by an abnormally short QT interval on an electrocardiogram (ECG), which reflects the electrical activity of the heart. This shortened QT interval indicates that the heart’s electrical system is repolarizing…
Long QT syndrome (LQTS) is a heart condition where the electrical system that controls the heartbeat takes longer than normal to recharge between beats. This delay shows up as a prolonged QT interval on an electrocardiogram (ECG). The syndrome can…
Brugada syndrome is a heart condition that affects the way electrical signals travel through the heart, leading to abnormal heart rhythms. These abnormal rhythms, especially in the lower chambers of the heart called the ventricles, can be dangerous and sometimes…
Barth syndrome is a rare genetic disorder primarily affecting males, caused by mutations in the *TAFAZZIN* gene. This gene mutation disrupts the production and remodeling of cardiolipin, a crucial lipid in the inner mitochondrial membrane, leading to mitochondrial dysfunction. The…
Pearson syndrome is caused by defects in the mitochondrial DNA (mtDNA), which lead to a failure in the mitochondria’s ability to produce energy properly. Mitochondria are tiny structures inside cells that act like power plants, generating the energy cells need…
Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder that primarily affects multiple body systems, leading to a wide range of complications. These complications arise because the mitochondria, which are responsible for producing energy in cells, are dysfunctional due to large…
MERRF syndrome, which stands for Myoclonic Epilepsy with Ragged Red Fibers, is caused by mutations in the mitochondrial DNA (mtDNA). These mutations disrupt the normal function of mitochondria, which are tiny structures inside cells responsible for producing energy. Because mitochondria…
MELAS syndrome, which stands for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes, is a complex genetic disorder that primarily affects the brain and muscles. The symptoms can be quite varied and often begin in childhood or early adulthood, although they…
Leigh syndrome is a severe neurological disorder caused primarily by defects in the mitochondria, the energy-producing structures within cells. These defects disrupt the ability of cells to generate energy efficiently, especially in the brain and nervous system, leading to progressive…
Mitochondrial myopathy is a group of disorders caused by dysfunctional mitochondria, the tiny powerhouses inside cells responsible for producing energy. When mitochondria fail to work properly, cells, especially muscle cells, cannot generate enough energy, leading to a wide range of…