Serum biomarkers of early stages of hypertrophic cardiomyopathy in a young population

Research output: Contribution to journalPublished meeting abstract


Background: Hypertrophic cardiomyopathy (HCM) is the most common monogenic cardiac disorder and the leading cause of sudden cardiac death in the young. Although in a majority of HCM cases there are gene mutations coding for sarcomere proteins, the onset for the clinical consequences of these mutations are difficult to predict, as these mutations do not show any clear relationship to the degree of myocardial hypertrophy. Hence identification of early markers for this disease is important. The aim of this study was to investigate novel serum biomarkers reflecting myocardial remodeling, microfibrosis and coronary endotheliopathy in young presymtomatic HCM patients and in individuals at risk for developing HCM. Methods: Eighty-nine participants (18 HCM patients, 14 HCM-risk individuals, and 57 healthy controls) with median age of 15 (range 0-30) years underwent assessment with echocardiography and serum analysis for myostatin, cathepsin S, endostatin, type I collagen degradation marker (ICTP), matrix metalloproteinase (MMP) 9, vascular (VCAM) and intercellular adhesion molecules (ICAM). In some individuals, myocardial perfusion was measured both at rest and after adenosine via magnetic resonance. Results: Both cathepsin S and endostatin were increased in the HCM group (p0.3) and diastolic function, expressed as E/e' (p0.3). In the HCM-risk group, myostatin was decreased (p0.1). Conclusion: To the best of our knowledge, this is the first study to suggest early onset changes in biomarkers of myoblast regulation, endothelial function and matrix remodeling in young presymptomatic HCM patients and in HCM-risk individuals.


Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Pediatrics


  • biological marker, myostatin, endostatin, marker, cathepsin S, protein, adenosine, cell adhesion molecule, gelatinase B, serum, hypertrophic cardiomyopathy, population, American, college, cardiology, human, risk, patient, heart muscle perfusion, mutation, sarcomere, myoblast, echocardiography, heart left ventricle mass, nuclear magnetic resonance, gene mutation, sudden cardiac death, heart ventricle hypertrophy, cell adhesion, control group, high risk population, collagen degradation, diseases
Original languageEnglish
Pages (from-to)A787
Number of pages1
JournalJournal of the American College of Cardiology
Issue number10S
Publication statusPublished - 2015 Mar 17
Publication categoryResearch