Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction [Original Articles]

Conclusions— LVHT and LVNC likely represent a continuum of genotypic disease with differences in severity and variable phenotype explained, in part, by the number of VOIs and whether mutations are present in sarcomeric or nonsarcomeric genes. Presence of VOIs is common in patients with LVHT. Our findings expand the current clinical and genetic diagnostic approaches for patients with LVHT and LVNC.

http://circgenetics.ahajournals.org/cgi/content/short/10/4/e001763?rss=1

Source: Circulation: Cardiovascular Genetics - August 10, 2017 Category: Cardiology Authors: Miszalski-Jamka, K., Jefferies, J. L., Mazur, W., Głowacki, J., Hu, J., Lazar, M., Gibbs, R. A., Liczko, J., Kłyś, J., Venner, E., Muzny, D. M., Rycaj, J., Białkowski, J., Kluczewska, E., Kalarus, Z., Jhangiani, S., Al-Khalidi, Tags: Genetics, Cardiomyopathy, Magnetic Resonance Imaging (MRI) Original Articles Source Type: research