Echocardiographic evaluation of pre-diagnostic development in young relatives genetically predisposed to hypertrophic cardiomyopathy

Identification of the first echocardiographic manifestations of hypertrophic cardiomyopathy may be important for clinical management and our understanding of the pathogenesis. We studied the development of pre-diagnostic echocardiographic changes in young relatives to HCM patients during long-term y...

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Bibliographic Details
Published in:International Journal of Cardiovascular Imaging 2015-12, Vol.31 (8), p.1511-1518
Main Authors: Jensen, Morten K., Havndrup, Ole, Christiansen, Michael, Andersen, Paal S., Axelsson, Anna, Køber, Lars, Bundgaard, Henning
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Asymptomatic Diseases
Cardiac Imaging
Cardiology
Cardiomyopathy, Hypertrophic, Familial - diagnostic imaging
Cardiomyopathy, Hypertrophic, Familial - genetics
Cardiomyopathy, Hypertrophic, Familial - physiopathology
Case-Control Studies
Child
Disease Progression
DNA Mutational Analysis
Echocardiography, Doppler
Female
Follow-Up Studies
Genetic Markers
Genetic Predisposition to Disease
Heredity
Humans
Imaging
Male
Medicine
Medicine & Public Health
Mitral Valve - diagnostic imaging
Mitral Valve - physiopathology
Mutation
Observer Variation
Original Paper
Pedigree
Phenotype
Predictive Value of Tests
Radiology
Risk Factors
Stroke Volume
Time Factors
Ventricular Function, Left
Young Adult
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Description
Summary:Identification of the first echocardiographic manifestations of hypertrophic cardiomyopathy may be important for clinical management and our understanding of the pathogenesis. We studied the development of pre-diagnostic echocardiographic changes in young relatives to HCM patients during long-term years follow-up. HCM-relatives not fulfilling the diagnostic criteria for HCM and age of 2 in a subset of relatives with unknown genetic status. Children carrying pathogenic sarcomere gene mutations develop reduced LVEDd and increased E/e’ as first pre-diagnostic echocardiographic manifestations during follow-up into adulthood.
ISSN:1569-5794
1573-0743
1875-8312
DOI:10.1007/s10554-015-0723-x