Multicenter Prospective Registry of Patients With Hypertrophic Cardiomyopathy

This study is observational registry of patients with HCM in Russian Federation. The study seeks to elucidate disease progression, identify contributing clinical factors, and explore new as well as previously established associations between genetic and acquired determinants and clinical features of HCM.The Additional Objectives of the Study are:

• To evaluate the natural progression of HCM in non-operated patients who have indications for myectomy and in high-risk patients for SCD, who have not been implanted with an ICD.
• To clarify the relationship between pediatric and adult HCM by constructing large pedigrees, including clinically and genetically examined relatives.
• To evaluate real-world clinical practices, both surgical and therapeutic, in the management of LV obstruction.
• To investigate the impact of comorbidities on phenotypic expression of HCM.
• To establish a group of national HCM experts and centers of excellence. We plan to include 1400 patients with HCM in the study.The examination of patients includes the collection of clinical information, ECG, EchoCG, Holter ECG monitoring, etc.• During follow-up period, patients or their relatives will be contacted by phone at least once every 12 months
• At follow-up visits, information regarding the study endpoints, ant medical examinations, and interventions that have occurred since the time of enrollment will be collected. Investigators are encouraged to make every effort to obtain official medical records that document these endpoints and any interventions that have taken place.

The genetic study aims to identify the causative genetic variants associated with HCM in enrolled patients (probands). The genetic testing will be conducted using new-generation sequencing (NGS) with target gene panels. In the study cohort of patients, an analysis of the effect of common genetic variants, identified based on the literature or GWAS, on the course of HCM will be conducted. In the study cohort (partially or entirely), genome-wide sequencing might be performed to replicate the significance of existing variants and to identify new genetic determinants that define the development of the HCM phenotype.

A comparative analysis of different parameters will be performed across various subgroups, categorized by the following characteristics (but not limited to them):

• Sex
• Age at first diagnosis
• Proband or relative status
• Presence of LV obstruction
• Morphological type of HCM
• Presence of comorbidities
• Presence of mutations or VUSs in sarcomere genes

In addition to the clinical and genetic spectrum and endpoints, the rate and type of diagnostic and treatment procedures related to HCM will be assessed.

In cases where the diagnosis of HCM was reconsidered or declined based on the results of additional investigations after enrollment, such patients will not be included in the prognosis analysis. However, they will be described in the clinical and genetic profile of the study population.