Medizinische Universität Graz - Research portal
Selected Publication:
Demian, C.
Hypertrophic Cardiomyopathy -
The Examination of Contemporary Insights with Regard to Genetic Aspects, Various Implications, Morphologic Variants, and Therapeutic Intervention
Humanmedizin; [ Diplomarbeit ] Graz Medical University; 2021. pp. 176
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- Authors Med Uni Graz:
- Advisor:
- Ablasser Klemens
- Verheyen Nicolas Dominik
- Altmetrics:
- Abstract:
- Introduction: The relevance of the ailment Hypertrophic Cardiomyopathy, with its clinical identification in existence in collectively 122 countries of the world, is of global scale. The disease’s etiologic basis in the extent of up to 60% of persons within their adolescence or adulthood represents mutations encountered in genes encoding for cardiac sarcomeric proteins. Methods: The present Diploma Thesis constitutes the result of Literature Research. Literature contained in Textbooks, Studies, and Reviews were utilized. Furthermore, the resource PubMed® and medical research platform Ovid® were applied. Results: A condition’s Genotype-Phenotype Correlation, even though not unequivocally evident, is discussed while an incomplete and age associated Penetrance has been demonstrated as well as determinants such as Complex Genotypes and Modifier Genes exert influence on the condition. Furthermore, Epigenetics as well as environmental factors have been taken into consideration of influencing Hypertrophic Cardiomyopathy. Hypertrophic Cardiomyopathy is encountered with a variability in morphologic expression, holding different hypertrophic patterns. Its manifestation of hypertrophy presents a substantial interindividual variation with regard to its extent as well as distribution. Possibility of a disease’s subdivision into an asymmetric, concentric, apical, and midventricular form as well as a mass-like manifestation, right ventricular involvement and genotype positive phenotype negative conjuncture, is existent. Therapeutic intervention includes inter alia the implementation of general measures and a pharmacological approach in reference to either, collectives subject to Left Ventricular Outflow Tract Obstruction and individuals in absence of the entity. In case of persons presenting Left Ventricular Outflow Tract Obstruction, invasive therapeutic contingencies constitute the procedures of Ventricular Septal Myectomy and Alcohol Septal Ablation. While Cardiac Pacing as a therapeutic measure is not unequivocally established, the option of Cardiac Transplantation in a subdivision of individuals presenting affirmative eligibility, is available. Conclusion: The condition of Hypertrophic Cardiomyopathy has been subject of a considerable extent of persons directing their attention to. As much information as has been gathered up until present time, entire elucidation of this in part question raising ailment has not been attained.