Hypertrophic cardiomyopathy (HCM) is the most common cardiac genetic disease with a prevalence of approximately 1:500. The HCM phenotype comprises left ventricular hypertrophy (LVH), myocyte disarray, myocardial fibrosis and reduced left ventricular volume. The subsequent diastolic dysfunction due to increased stiffness and impaired filling contributes to exertional dyspnea and exercise intolerance.
No current treatment can prevent or reverse fibrosis or diastolic dysfunction in patients with HCM. The selective cardiac myosin inhibitor Mavacamten may attenuate disease progression, but clinical use still awaits further studies. It has been shown that endurance training improves diastolic function in healthy hearts, and in patients with heart failure with preserved ejection fraction (HFpEF). Animal studies also indicate a beneficial effect on tissue organization and cardiac stiffness in HCM. We have previously demonstrated a correlation between exercise and larger end diastolic volume (EDV) and favorable diastolic function in HCM. However, few studies have explored the effects of exercise training in individuals genetically predisposed to HCM.
Patients with HCM were historically advised to restrict exercise training, since HCM was found to be a common cause of death in an autopsy study of young athletes. However, the 2020 ESC guidelines on sports cardiology recommend individual risk assessment as a basis for advice regarding exercise and sports participation. Still, Khoury et al. found that the advice given to youth with HCM show great variation between different centers and individual health care providers. Further evidence is clearly needed to provide basis for advice on exercise and sports participation for this group.
As part of genetic cascade screening of families with HCM, an increasing number of individuals that carry genetic variants for HCM are identified early in life and prior to phenotype development. Therefore, evidence for a favorable effect of exercise training during youth in individuals with a genetic predisposition for HCM would have major implications for clinical practice and advice to such individuals. We used data from a large cohort of individuals (N = 187) with HCM or with HCM-causative genetic variants presented in our previous study, to explore the associations between exercise training during childhood and adolescence, and diastolic function later in life.
We have demonstrated that exercise training during childhood and adolescence is associated with a favorable diastolic function later in life (Fig. 1
). These results were found irrespective of phenotype and age at the time of examination (Table 2
). Our main findings are in line with our previous study, where we reported a favorable correlation between lifetime vigorous exercise and EDV.
Exercise training during childhood and adolescence is associated with favorable diastolic function in hypertrophic cardiomyopathy - ScienceDirect
Int J Cardiol. 2022 Oct 1;364:65-71.
Kristine Andreassen, Lars A Dejgaard, Øyvind Lie, Trine S Fink, Ida G Lunde, Thor Edvardsen, Kristina H Haugaa, Mathis K Stokke
Shared under Creative Commons (CC BY 4.0) license.