Myofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis
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Dahiya, Arun
Lo, Ada
Scalia, Gregory M
Atherton, John J
Prasad, Sandhir B
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Abstract
The investigators present a rare case of myofibrillar cardiomyopathy in an 18-year-old male patient in which echocardiography, cardiac magnetic resonance, and genetic testing played complementary roles. At the top, the parasternal long- and short-axis views of the heart document increased wall thickness and normal systolic function. Significant diastolic dysfunction was present. Cardiac magnetic resonance imaging (bottom) showed delayed enhancement in thickened segments and was not suggestive of cardiac amyloid or hypertrophic cardiomyopathy. Quadriceps muscle biopsy showed histopathology compatible with myofibrillar myopathy. Subsequent genetic testing confirmed a novel desmin gene mutation as the cause.
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CASE (Phila)
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© 2017 by the American Society of Echocardiography. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, providing that the work is properly cited.
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Subject
Genetics
Desminopathy
Myofibrillar cardiomyopathy
Desminopathy
Myofibrillar cardiomyopathy
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Koitka, K; Dahiya, A; Lo, A; Scalia, GM; Atherton, JJ; Prasad, SB, Myofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis., CASE (Phila), 2017, 1 (1), pp. 28-33