 Cardiac channelopathies are disorders characterized by disturbances in the electrical activity of the heart. They can precipitate into life threatening arrhythmias eventually leading to sudden cardiac death. Cardiac channelopathies primarily include Long QT syndrome (LQTS), Brugada syndrome (BrS), Short QT syndrome (SQTS) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). Clinical diagnosis is usually based on symptoms such as, recurrent syncope, heart palpitations, chest pain, dizziness, shortness of breath and abnormalities in ECG. In addition to these symptoms, positive family history of any cardiac event, or sudden cardiac death is also taken into consideration during diagnosis of these diseases. | Genomics and Genetics of Cardiac Channelopathies Three ion channel genes are majorly implicated in cardiac channelopathies, however there are more than 35 genes that are also reported to be associated with these conditions. Incomplete penetrance, variable expressivity along with pronounced genotypic and phenotypic heterogeneity, observed among affected individuals, makes diagnosis of these diseases difficult. Understanding the mutational spectrum of these diseases in the Indian context is of prime importance, given the large population, prevalent practice of endogamy and population stratification. Although large scale genotypic studies have been reported from western population, there is limited data on the genotypic landscape of these diseases in India. Such a genetic landscape would provide the much required data to enable fast, precise diagnosis and allow for appropriate therapeutic decisions. | Collaborators: All India Institute of Medical Sciences, New Delhi Madras Medical Mission, Chennai Tirunelveli Medical College, Tirunelveli Safdarjung Hospital, New Delhi Amrita Institute of Medical Sciences, Kochi Government Medical College, Calicut Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bengaluru R. K. Hospital for Women and Children, Thanjavur Past Meetings: Recent Advances in Cardiovascular Genetics and Genomics 20th July, 2019, Sri Balaji Vidyapeeth, Puducherry Genetics & Genomics in Cardiovascular Diseases 8th and 9th September 2017, Madras Medical Mission, Chennai |
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