MYH7 mutation and non-isolated noncompaction

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? LVHT has been repeatedly reported in association with MYH7 mutations [4-11]. In an adult with mild myopathy LVHT was associated with the c.5566G>A mutation [4]. In a patient with bicuspid aortic valve and LVHT, cardiac abnormalities were associated with the mutation c.1316T>G [5]. In several members of a family with LVHT the mutation c.842G>C was detected [6]. A pediatric patient with heart failure carried the mutation R369Q [7]. In four LVHT families and 4 sporadic cases the mutations c.818_IG_A, Arg243His, Asp239del, Phe252Leu, Arg1359Cys, and Ala1766Thr, were detected [8]. In a 26yo female with LVHT the mutation Tyr350Asp was reported [9]. A 7day-old boy undergoing surgical repair for VSD and LVHT carried the insertion c.2010-2031ins [10]. In a family with LVHT, atrial septal defect (ASD) II and Ebstein’s anomaly the mutation Tyr283Asp was detected [11]. MYH7 mutations associated with LVHT were also reported by Hoedemaekers et al. 2010 [12]. LVHT associated with MYH7 mutations may be already detected upon intra-uterine ultrasound [13].