Titin Mutations and Left Ventricular Hypertrabeculation / Noncompaction (LVHT)

In a three generation family cardiomyopathy was detected in 8 of them. Cardiomyopathy was classified as left ventricular hypertrabeculation / noncompaction in five family members. Upon high throughput next generation sequencing techniques, a point mutation in the titin gene was detected and made responsible for the cardiac manifestations. However, several arguments can be raised against a causal relation and it was not assessed if frequent complications of noncompaction, such as vebntricular arrhythmias, cardioembolism, or heart failure occurred in any of the family members. Additionally, family members carrying the titin mutation were not neurologically investigated, although it is well established that tinin mutations may cause limb girdle muscular dystrophy.

Keywords: myopathy, non-compaction, hypertrabeculation, mutation, gene, congenital muscular dystrophy.