Alieva NailyaRussian Peoples of Friendship University, Russian Federation
Title: PRKAG2 glycogen storage cardiomyopathy syndrome: A clinical review
Hypertrophic cardiomyopathy often serves as a component of various metabolic diseases resulting from mutations in the genes of proteins of the non-sarcomeric complex, resulting in the deposition of metabolic products in the cytoplasm or lysosomes of cardiomyocytes, for example such diseases include Pompe, Cori, Fabry diseases, amylosidosis. Glycogenoses dominate among the metabolic forms of hypertrophic cardiomyopathy. Mutations in a number of genes of proteins of the non-sarcomeric complex-the PRKAG2 gene (?2-subunit of adenosymonophosphate-activating protein kinase) cause hypertrophic cardiomyopathy, phenotypic manifestations are very similar to the primary forms of the disease resulting from mutations in the genes of the sarcomeric complex. In these cases, metabolic products (glycogen) are deposited mainly in the myocardium. PRKAG2 syndrome is autosomal dominant inherited disease. Clinical manifestations PRKAG2 syndrome include cardiac hypertrophy, ventricular pre-excitation, atrioventricular conduction abnormalities (accessory atrio-ventricular pathways in Wolff-Parkinson-White syndrome (WPW syndrome), and atrial flutter or fibrillation. Combinating WPW syndrome and atrial fibrillation in patients with hypertrophic cardiomyopathy can lead to sudden cardiac death. Sudden cardiac death may occur before 30 years, cased by atrial fibrillation conducting with life-threatening arrythmias. Therefore, the most important for this category of patients is the timely surgical elimination of life-threatening arrythmias and prevention of sudden cardiac death.
Nailya Alieva has complete aspiranture in Bakoulev National Medical Research Centre for Cardiovascular Surgery, specialization cardiovascular surgeon. She complete her PHD at age 37 years from in Bakoulev National Medical Research Centre for Cardiovascular Surgery. She has 9 publications.