Neuromuscular Disorders and Noncompaction Cardiomyopathy

Abstract

Noncompaction cardiomyopathy (NCCM), also known as left ventricular hypertrabeculation (LVHT), occurs with an increased prevalence in patients with a neuromuscular disorder (NMD). The first NMD patient with LVHT was a patient with Becker muscular dystrophy, reported in 1996. Since then, LVHT was found in a number of other NMDs. The most prevalent of the NMDs are mitochondrial disorders (MIDs), myotonic dystrophy type-1 (MD1), dystrophinopathies, Barth syndrome, titinopathies, and laminopathies: The NMDs in which LVHT has been reported most frequently so far are MIDs, dystrophinopathies, Barth syndrome, and MD1. Mutated genes detected in LVHT patients with a NMD include DMD, TAZ, DTNA, mtDNA genes (ND1, tRNA(Leu), COX3, ND4), LDB3, DMPK, LMNA, AMPD1, PMP22, MYH7, CNBP, GLA, RYR1, DNAJC19, MYH7B, LAMP2, TTN, GARS, SDHD, HADHB, PLEC1, MIPEP, and POMPT2. Since NMDs present frequently with LVHT and since LVHT is associated with complications and the outcome of LVHT patients depends on the presence/absence of an NMD, it is essential that all patients with a NMD are prospectively investigated for LVHT and that all patients with LVHT are prospectively investigated for a NMD. Management of LVHT depends on the presence/absence of a NMD.