The Subclinical Cardiomyopathy of Friedreich's Ataxia in a Pediatric Population.
The Subclinical Cardiomyopathy of Friedreich's Ataxia in a Pediatric Population.
- 2018
Available online from MWHC library: 1995 - present
BACKGROUND: Identification of a subclinical cardiomyopathy in a pediatric patients with Friedreich's ataxia (FA) has not been well-described. CONCLUSIONS: A subclinical hypertrophic cardiomyopathy is common in pediatric FA patients and CH is associated with both diastolic and systolic dysfunction. Copyright (c) 2017. Published by Elsevier Inc. METHODS: We performed echocardiography (echo), cardiac magnetic resonance imaging (cMRI) and neurologic assessment in a cross-sectional analysis of 48 genetically-confirmed FA subjects aged 9-17 years with moderate neurologic impairment but without a cardiovascular history. Echo and cMRI-determined left ventricular mass were indexed to height in g/m2.7 (LVMI). LV remodeling was categorized as concentric remodeling (CR), concentric hypertrophy (CH) or eccentric hypertrophy based upon echo-determined relative LV wall thickness. RESULTS: Echo LVMI exceeded age-based normal values in 85% of subjects and cMRI-determined LVMI correlated with depression of both diastolic and systolic tissue Doppler velocity (E': r= -0.65, p<0.001, S': r=-0.46, p<0.001) as well as increased early diastolic Doppler flow velocity/tissue velocity ratio (r=0.55, p<0.001), a marker of elevated LV filling pressure. Similar associations were found with echo LV mass. Depressed LV relaxation and increased LV stiffness were observed in 88% and 71% of subjects despite a normal LV ejection fraction in almost all cases (mean = 60 + 7%). CR and CH were present in 40% and 44% of the study group though significant depressions of E' and S' were observed only in subjects with CH (p<0.005).
English
1071-9164
*Cardiomyopathy, Hypertrophic/et [Etiology]
*Echocardiography, Doppler/mt [Methods]
*Friedreich Ataxia/co [Complications]
*Heart Ventricles/dg [Diagnostic Imaging]
*Magnetic Resonance Imaging, Cine/mt [Methods]
*Ventricular Function, Left/ph [Physiology]
Adolescent
Cardiomyopathy, Hypertrophic/di [Diagnosis]
Cardiomyopathy, Hypertrophic/pp [Physiopathology]
Child
Cross-Sectional Studies
Disease Progression
Double-Blind Method
Female
Follow-Up Studies
Heart Ventricles/pp [Physiopathology]
Humans
Male
Ventricular Remodeling
MedStar Health Research Institute
Journal Article
Available online from MWHC library: 1995 - present
BACKGROUND: Identification of a subclinical cardiomyopathy in a pediatric patients with Friedreich's ataxia (FA) has not been well-described. CONCLUSIONS: A subclinical hypertrophic cardiomyopathy is common in pediatric FA patients and CH is associated with both diastolic and systolic dysfunction. Copyright (c) 2017. Published by Elsevier Inc. METHODS: We performed echocardiography (echo), cardiac magnetic resonance imaging (cMRI) and neurologic assessment in a cross-sectional analysis of 48 genetically-confirmed FA subjects aged 9-17 years with moderate neurologic impairment but without a cardiovascular history. Echo and cMRI-determined left ventricular mass were indexed to height in g/m2.7 (LVMI). LV remodeling was categorized as concentric remodeling (CR), concentric hypertrophy (CH) or eccentric hypertrophy based upon echo-determined relative LV wall thickness. RESULTS: Echo LVMI exceeded age-based normal values in 85% of subjects and cMRI-determined LVMI correlated with depression of both diastolic and systolic tissue Doppler velocity (E': r= -0.65, p<0.001, S': r=-0.46, p<0.001) as well as increased early diastolic Doppler flow velocity/tissue velocity ratio (r=0.55, p<0.001), a marker of elevated LV filling pressure. Similar associations were found with echo LV mass. Depressed LV relaxation and increased LV stiffness were observed in 88% and 71% of subjects despite a normal LV ejection fraction in almost all cases (mean = 60 + 7%). CR and CH were present in 40% and 44% of the study group though significant depressions of E' and S' were observed only in subjects with CH (p<0.005).
English
1071-9164
*Cardiomyopathy, Hypertrophic/et [Etiology]
*Echocardiography, Doppler/mt [Methods]
*Friedreich Ataxia/co [Complications]
*Heart Ventricles/dg [Diagnostic Imaging]
*Magnetic Resonance Imaging, Cine/mt [Methods]
*Ventricular Function, Left/ph [Physiology]
Adolescent
Cardiomyopathy, Hypertrophic/di [Diagnosis]
Cardiomyopathy, Hypertrophic/pp [Physiopathology]
Child
Cross-Sectional Studies
Disease Progression
Double-Blind Method
Female
Follow-Up Studies
Heart Ventricles/pp [Physiopathology]
Humans
Male
Ventricular Remodeling
MedStar Health Research Institute
Journal Article