title: Combination of mitochondrial myopathy and biventricular hypertrabeculation/noncompaction.
abstract: Left ventricular hypertrabeculation/noncompaction (LVHT/LVNC), characterized by prominent trabeculations and intertrabecular recesses within the left ventricle, is a cardiac abnormality of unclear etiology. Although the left ventricle is the most commonly affected site, a few cases of biventricular involvement have also been reported. We report a 31-year-old woman who presented with mild cardiac symptoms and progressive bilateral limb muscle weakness following exercise which she had also been experiencing for about 5 years. Abnormal serum levels of creatine kinase, lactic acid and pyruvic acid, combined with the results of modified lactate stress test, needle EMG and muscle biopsy indicated that she had mitochondrial myopathy. The transthoracic echocardiography, together with magnetic resonance imaging (MRI), revealed biventricular hypertrabeculation.
authors.affiliation: Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, China.
authors.forename: Xiangquan
authors.initials: X
authors.lastname: Kong
authors.affiliation: Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Han
authors.affiliation: Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Hu
authors.affiliation: Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Cao
authors.affiliation: FM Kirby Neurobiology Research Center, Children's Hospital at Boston, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, China. Electronic address: xhzhuqing@gmail.com.
authors.forename: Qing
authors.initials: Q
authors.lastname: Zhu
mesh_terms: D000328:Adult; D004452:Echocardiography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D017240:Mitochondrial Myopathies / Q000097:blood / Q000175:diagnosis* / Q000000981:diagnostic imaging; D018754:Ventricular Dysfunction / Q000097:blood / Q000175:diagnosis* / Q000000981:diagnostic imaging
keywords: Biventricular noncompaction; Hypertrabeculation; Mitochondrial myopathy