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Updated: Apr 16, 2026
Non-invasive Assessment of Microvascular and Endothelial Function
Published on: January 29, 2013
Peripheral microvascular function is altered in young individuals at risk for hypertrophic cardiomyopathy and
Eva Fernlund1, Todd T Schlegel2, Pyotr G Platonov3
1Department of Pediatric Cardiology, Pediatric Heart Center, Skane University Hospital and Clinical Sciences, Lund University, Lund, Sweden; Department of Pediatrics, Linkoping University Hospital, Linkoping, Sweden; and eva.fernlund@med.lu.se.
Insights
Hypertrophic cardiomyopathy (HCM) is linked to early diastolic dysfunction and peripheral microvascular changes, even before significant heart muscle thickening occurs. These findings in young individuals highlight potential early detection markers for HCM risk.
Area of Science:
- Cardiology
- Vascular Biology
- Pediatric Cardiology
Background:
- Hypertrophic cardiomyopathy (HCM) is a primary cause of sudden cardiac death in young individuals.
- Previous studies suggest vascular abnormalities in adults with HCM, but data on early stages and at-risk youth are limited.
Purpose of the Study:
- To evaluate peripheral vascular and myocardial diastolic function in young individuals with early-stage HCM or at risk for HCM.
- To identify early functional changes preceding or accompanying left ventricular hypertrophy (LVH).
Main Methods:
- The study included young individuals with HCM (n=36), at risk for HCM (n=30), healthy controls (n=85), and athletes (n=12).
- Assessments involved electrocardiography, echocardiography, tissue Doppler imaging, and laser Doppler with iontophoresis of acetylcholine (ACh) and sodium nitroprusside.
- Left ventricular (LV) thickness, mass, mitral E-to-e' ratio, and microvascular responses were analyzed.
Main Results:
- LV thickness and mass were elevated in the HCM and athlete groups.
- The mitral E-to-e' ratio was significantly increased in the HCM and HCM-risk groups compared to controls and athletes.
- Impaired microvascular responses to ACh were observed in the HCM and HCM-risk groups, correlating with diastolic dysfunction.
Conclusions:
- Familial history or genetic mutations associated with HCM lead to early cardiac diastolic and peripheral microvascular functional changes, preceding myocardial hypertrophy.
- Tissue Doppler imaging is valuable for distinguishing HCM from physiological LV hypertrophy in young athletes.
Abstract:
Hypertrophic cardiomyopathy (HCM) is a major cause of sudden cardiac death in the young. Based on previous reports of functional abnormalities in not only coronary but also peripheral vessels in adults with HCM, we aimed to assess both peripheral vascular and myocardial diastolic function in young individuals with an early stage of HCM and in individuals at risk for HCM. Children, adolescents, and young adults (mean age: 12 yr) with a family history of HCM who either had (HCM group; n = 36) or did not have (HCM-risk group; n = 30) echocardiography-documented left ventricular (LV) hypertrophy as well as healthy matched controls (n = 85) and healthy young athletes (n = 12) were included in the study. All underwent assessment with 12-lead electrocardiography, two-dimensional echocardiography, tissue Doppler imaging and laser Doppler with transdermal iontophoresis of ACh and sodium nitroprusside. LV thickness and mass were increased in HCM and athlete groups compared with control and HCM-risk groups. The mitral E-to-e' ratio, measured via tissue Doppler, was increased in HCM (P < 0.0001) and HCM-risk (P < 0.01) groups compared with control and athlete groups, as were microvascular responses to ACh (HCM group: P = 0.045 and HCM-risk group: P = 0.02). Responses to ACh correlated with the E-to-e' ratio (r = 0.5, P = 0.001). Microvascular responses to sodium nitroprusside were similar in all groups (P > 0.2). HCM-causing mutations or its familial history are associated with changes in cardiac diastolic function and peripheral microvascular function even before the onset of myocardial hypertrophy. Tissue Doppler can be used to differentiate HCM from physiological LV hypertrophy in young athletes.
