Abstract
We present a series of 9 adults in 2 families with isolated noncompaction of the ventricular myocardium involving the left ventricular apex. Three of these patients had been previously misdiagnosed as having dilated cardiomyopathy, apical hypertrophic cardiomyopathy, or apical mural thrombus. Phenotypic variation was observed with gradation of severity of noncompaction and left ventricular systolic dysfunction between first-degree relatives.
MeSH terms
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Adolescent
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Adult
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Aged
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Cardiomyopathy, Dilated / diagnostic imaging
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Cardiomyopathy, Dilated / genetics
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Cardiomyopathy, Dilated / physiopathology
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Cardiomyopathy, Hypertrophic / diagnostic imaging
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Cardiomyopathy, Hypertrophic / genetics
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Cardiomyopathy, Hypertrophic / physiopathology
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Coronary Artery Disease / diagnostic imaging
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Coronary Artery Disease / genetics
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Coronary Artery Disease / physiopathology
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Coronary Thrombosis / diagnostic imaging
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Coronary Thrombosis / genetics
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Coronary Thrombosis / physiopathology
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Diagnosis, Differential
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Echocardiography, Doppler, Color
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Electrocardiography, Ambulatory
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Family Health
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Female
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Genetic Predisposition to Disease / genetics
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Heart Ventricles / diagnostic imaging
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Heart Ventricles / pathology
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Humans
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Hypertrophy, Left Ventricular / diagnostic imaging
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Hypertrophy, Left Ventricular / genetics
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Hypertrophy, Left Ventricular / physiopathology
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Male
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Middle Aged
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Myocardium / pathology*
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Pedigree
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Stroke Volume / genetics
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Tomography, X-Ray Computed