Why the study?
Does the presence of a sarcomere gene mutation predict the clinical phenotype in patients with isolated left ventricular noncompaction cardiomyopathy?
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.
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Sarcomere mutations should not yet inform prognosis in isolated LVNC; leaves open contributions from other genes or modifiers.
Probst et al. (2011) studied this question.
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