MYH7 mutation and non-isolated noncompaction
| Main Authors: | Josef Finsterer, Claudia Stöllberger |
|---|---|
| Format: | Article |
| Terbitan: |
, 2019
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| Subjects: | |
| Online Access: |
https://zenodo.org/record/3592755 |
Daftar Isi:
- In a recent article, Hirano et al. reported about Ebstein’s anomaly, non-compaction/left ventricular hypertrabeculation (LVHT), and ventricular septal defect (VSD) in a single patient carrying a MYH7 mutation [1]. We have the following comments and concerns. LVHT is frequently associated with neuromuscular disorders (NMDs) or chromosomal defects [2]. MYH7 mutations may be even associated with muscle disease [3]. Was the described MYH7 mutation also manifesting in the skeletal muscle as has been previously reported [3,4]? Were family members carrying the MYH7 mutation also investigated for muscle disease?