Chapters authored
Genetic Evaluation of Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is defined as left ventricular hypertrophy in the absence of abnormal loading conditions. In 50–60% of adolescents and adults with HCM, the disease is inherited as an autosomal dominant trait caused by mutations in cardiac sarcomere protein genes. The most cases are due to mutations in genes which determine the synthesis of myosin-binding protein C (MYBPC3) and beta-myosin heavy chain (MYH7). More rarely involved genes are those encoding myosin light chain 3 (MYL3), tropomyosin alpha-1 chain (TPM1), and cardiac troponins I and T (TNNI3, TNNT2). Mutations in genes encoding Z-disc or calcium-handling proteins account for less than 1% of cases. Multiple sarcomeric protein mutations are present in up to 5% of individuals. A further of 5% of patients have inherited metabolic or neuromuscular diseases, chromosome abnormalities, and genetic syndromes. HCM is characterized by a highly heterogeneous phenotype, highly variable intra- and interfamily expressivity and incomplete penetrance, therefore by a genotype-phenotype plasticity.
Part of the book: Current Perspectives on Cardiomyopathies
Immunological Insights on Pathogenic Connections between Hepato-Digestive Disorders and Periodontal Conditions
The oral cavity is an integral part of the digestive tract and thus significant diseases, including periodontitis, can have an important impact on the normal nutritional functions of the body. Certain diseases of the hepato-digestive system have an inflammatory component, such as chronic hepatitis, fatty liver disease, or gastric cancer. This inflammatory reaction is mainly driven by pro-inflammatory chemokines. This is also the case for periodontitis, a condition characterized by the inflammation of the supporting tissues of teeth. Thus, significant pathogenic connections mediated by pro-inflammatory chemokines could exist between periodontitis and diseases of the hepato-digestive system.
Part of the book: Chemokines Updates