Isolated left ventricular abnormal trabeculation in adults is associated with neuromuscular disorders

Background: Isolated left ventricular abnormal trabeculation (ILVAT) is defined as < 3 coarse trabeculations of the left ventricular wall, apically to the papillary muscles, in hearts without congenital malformations. Hypothesis: The aims of the study were to assess by echocardiography the prevalence of ILVAT, to confirm the diagnosis by cardiac magnetic resonance imaging (CMRI), to look for cardiac findings in ILVAT, and to determine whether ILVAT is familial and associated with neurological disorders. Methods: During a 1‐year period (July 1995 to July 1996) all patients in whom transthoracic echocardiography visualized ILVAT, were included in the study. The examination and measurements were performed according to established guidelines. Results: During 1 year, ILVAT was found in 6 of 3,397 patients (0.2%). When applied, CMRI confirmed ILVAT. Four patients had heart failure, all had electrocardiographic (ECG) abnormalities. None of the investigated relatives showed ILVAT. One patient had Becker's muscular dystrophy, three had mitochondrial myopathy, one had polyneuropathy, and one had muscle wasting of unknown origin. Conclusions: Isolated left ventricular abnormal trabeculation is rare, visible on echocardiography and CMRI, associated with ECG abnormalities, sometimes with heart failure, and always with neuromuscular disorders. Thus, when ILVAT is found, the cardiologist should consider a neurology referral.