Table 2.

Summary of current knowledge, gaps in evidence, and future directions.

Current Knowledge	Gaps in Evidence	Future Directions
HCM is caused by mutations in sarcomeric or sarcomeric-related genes;	Incomplete understanding of disease genetics, particularly in “genotype negative/phenotype positive” patients;	Use of broad gene panels, or whole-exome/whole-genome sequencing;
Penetrance and expressivity are subjected to various genetic and nongenetic influences;	Incomplete understanding of the natural history of HCM;	Conduct multiethnic, large-scale prospective cohort studies to assess disease progression;
Overt disease can be easily diagnosed with available imaging techniques;	Deficiency/lack of modalities that allow early diagnosis;	Refine existing imaging techniques; develop multimodal approaches that permit early diagnosis;
Noncoding RNAs have emerged as useful tools for diagnosis, prognosis, and therapeutics of HCM;	Limited data about their mechanism of action and regulated pathways, particularly in humans;	Use relevant in vivo models before translating into clinics; Use alternative in vitro models (patient-derived iPSC) to gain insights about regulated pathways in humans;
Risk prediction models are used in clinical practice (HCM Risk-SCD score).	Risk stratification models in specific groups (such as women and children).	Fine-tune existing risk models according to findings from multiethnic, large-scale cohort studies focusing on specific subpopulations.

HCM—hypertrophic cardiomyopathy, RNA—ribonucleic acid, SCD—sudden cardiac disease, and iPSC—induced pluripotent stem cells.