Congenital and Hereditary Heart Diseases

Ion channels are pore forming proteins that provide pathways for the controlled movement of ions into and out of cells. Diseases caused by mutations in genes that encode ion channel subunits or regulatory proteins are reffered to as channelopathies. Cardiac Channelopathies and Sudden Cardiac Death (SCD) Arrhythmogenesis in cardiac channelopathies: Cardiac Channelopathies of clinical significance: Cardiac Channelopathies: Brugada Syndrome ( BrS ) ECG manifestations in Brugada Syndrome:- ST segment and T wave are typically involved in Brugada Syndrome and pattern of ST-T changes can be any one of the following:- Cardiac Channeloapthies: Long QT Syndrome ( LQTS ) LQTS is … Read more

Hypertrophic Cardiomyopathy is a hereditary disorder that is typically inherited in an autosomal dominant fashion with variable penetrance and expressivity. The hallmark of the disorder is myocardial hypertrophy that is inappropriate, often asymmetrical, and occurs in the absence of an obvious inciting hypertrophy stimulus. This hypertrophy can occur in any region of the left or right ventricle, but frequently involves the interventricular septum, which in nearly quarter of patients results in an obstruction of flow through the left ventricular outflow tract. Mutations involving genes coding for sarcomeric proteins accounts for most cases of HCM. ECG manifestations of HCM: Ventricular Hypertrophy … Read more