MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients

Cardiomyopathies (CMPs) are a heterogeneous group of diseases, frequently genetic, affecting the heart muscle. The symptoms range from asymptomatic to dyspnea, arrhythmias, syncope, and sudden cardiac death. This study is focused on MYH7 (beta-myosin heavy chain), as this gene commonly mutated in cardiomyopathy patients. Due high combined prevalence variants severe health outcomes, it one most tested genes clinical settings. We analyzed presentation natural history 48 patients with MYH7-related belonging cohort tertiary center at Helsinki University Hospital, Finland. made special reference three age subgroups (0–1, 1–12, >12 years). Our results characterize clinically significant cohort, emphasizing variability CMP phenotype depending age. observed subgroup infants (0–1 years) associated DCM phenotype. further demonstrate that under 12 years have similar symptom burden compared older