Does the presence of a sarcomere gene mutation predict the clinical phenotype in patients with isolated left ventricular noncompaction cardiomyopathy?
While sarcomere gene mutations are present in a significant proportion of isolated LVNC cases, they do not predict the clinical phenotype.
Mutations in sarcomere genes account for a significant (29%) proportion of cases of isolated LVNC in this cohort. The distribution of disease genes confirms genetic heterogeneity and opens new perspectives in genetic testing in patients with LVNC and their relatives at high risk of inheriting the cardiomyopathy. The presence or absence of a sarcomere gene mutation in LVNC cannot be related to the clinical phenotype.
Probst et al. (2011) studied this question.