Finland
Hypertrophic cardiomyopathy (HCM)is diagnosed as just one disease. It is, however, a prime example of cardiac myopathy; arising from multiple causal gene mutations, and expressing clinical heterogeneity with complex, multiscale manifestations ranging from molecular and cellular function, tissue structure, to cardiac function. Moreover, HCM is not confined to the heart alone, but spans the entire cardiovascular system. To better understand, strati-fy, and treat the disease requires integration and use of data about disease molecular and cellular mechanisms, genotypic traits, population level clinical data, and patient's phenotypical findings. Obtaining, storing, protecting, pro-cessing and using the complex information is challenging. To highlight these challenges, in this special session we bring together the methodologies and tools developed within SMASH-HCM, an EU HORI-ZON-Digital Twin themed project, which aims to develop and validate a digital twin platform to support clinicians with better stratification and patient management strategies, tailored to individual patient pathophysiology, geno-type, and phenotype in hypertrophic cardiomyopathy.
We showcase the HCM challenge and how we integrate data from differ-ent scales from molecular manifestation of the disease to patient cellular, tissue, whole heart and finally entire cardiovascular systemic level models. The in-vitro and in-silico model insight on the disease and drug mechanisms form the foundation on which we build structured clinical and unstructured data-based models with emphasis on explainable artificial intelligence towards better understanding of the HCM pathophysiology. All these are being integrated into a three-level decision support solution with deep phenotyping and risk stratification tools to support clinical work-flows and decision making enabling the development of effective personal-ized treatment and for the patients for their self-management and possible find new repurposed drugs to mitigate the HCM. The SMASH-HCM toolset could offer an exemplar for future application to other cardiac myopathies and othercomorbidities.