Restrictive cardiomyopathy is a type of heart muscle disease where the walls of the heart become stiff and less flexible, making it difficult for the heart chambers to fill properly with blood. This stiffness does not usually affect the heart’s…
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease primarily affecting the right ventricle, one of the heart’s main pumping chambers. What makes ARVC unique and challenging is that it causes the normal heart muscle cells to be gradually…
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited heart rhythm disorder characterized by abnormal heartbeats triggered by physical activity or emotional stress. The complications of CPVT arise primarily from its tendency to cause dangerous ventricular arrhythmias, which can have…
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…