Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T
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...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Cardiology |
| Online Access: | http://dx.doi.org/10.1155/2020/5128069 |
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| _version_ | 1832547680031604736 |
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| author | Josef Finsterer Claudia Stöllberger Matthias Hasun Korbinian Riedhammer Mathias Wagner |
| author_facet | Josef Finsterer Claudia Stöllberger Matthias Hasun Korbinian Riedhammer Mathias Wagner |
| author_sort | Josef Finsterer |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-fa08deb9626945d38fa04076fcb6cccd |
| institution | Kabale University |
| issn | 2090-6404 2090-6412 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Cardiology |
| spelling | doaj-art-fa08deb9626945d38fa04076fcb6cccd2025-02-03T06:43:51ZengWileyCase Reports in Cardiology2090-64042090-64122020-01-01202010.1155/2020/51280695128069Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>TJosef Finsterer0Claudia Stöllberger1Matthias Hasun2Korbinian Riedhammer3Mathias Wagner4Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Vienna, Austria2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Vienna, AustriaInstitute of Human Genetics, GermanyInstitute of Human Genetics, GermanyLeft 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.http://dx.doi.org/10.1155/2020/5128069 |
| spellingShingle | Josef Finsterer Claudia Stöllberger Matthias Hasun Korbinian Riedhammer Mathias Wagner Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T Case Reports in Cardiology |
| title | Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T |
| title_full | Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T |
| title_fullStr | Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T |
| title_full_unstemmed | Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T |
| title_short | Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T |
| title_sort | multisystem myotilinopathy including myopathy and left ventricular noncompaction due to the myot variant c 179c t |
| url | http://dx.doi.org/10.1155/2020/5128069 |
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