Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T
Joint Authors
Pacer, Elizabeth
Finsterer, Josef
Stöllberger, Claudia
Riedhammer, Korbinian
Wagner, Mathias
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-05-14
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Left ventricular hypertrabeculation/noncompaction is a myocardial abnormality of unknown etiology/pathogenesis, which is frequently associated with neuromuscular disorders or chromosomal defects.
LVHT in association with a MYOT mutation has not been reported.
The patient is a 72-year-old male with a history of strabismus in childhood, asymptomatic creatine-kinase elevation since age 42 years, slowly progressive lower limb weakness since age 60 years, slowly progressive dysarthria and dysphagia since age 62 years, and recurrent episodes of arthralgias and myalgias since age 71 years.
He also had arterial hypertension, diverticulosis, hyperlipidemia, coronary heart disease, and a hiatal hernia with reflux esophagitis.
Clinical exam revealed mild quadruparesis and proximal wasting of the legs.
Whole exome sequencing revealed a known variant in the MYOT gene.
Muscle biopsy, previously assessed as inclusion body myopathy, was compatible with the genotype after revision.
Cardiologic work-up revealed a left anterior hemiblock, mild myocardial thickening, and noncompaction.
This case shows that myotilinopathy may manifest as a multisystem disease, including noncompaction.
American Psychological Association (APA)
Finsterer, Josef& Stöllberger, Claudia& Pacer, Elizabeth& Riedhammer, Korbinian& Wagner, Mathias. 2020. Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. Case Reports in Cardiology،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1146117
Modern Language Association (MLA)
Finsterer, Josef…[et al.]. Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. Case Reports in Cardiology No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1146117
American Medical Association (AMA)
Finsterer, Josef& Stöllberger, Claudia& Pacer, Elizabeth& Riedhammer, Korbinian& Wagner, Mathias. Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. Case Reports in Cardiology. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1146117
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1146117