Modelling and decoding the mechanisms of left ventricular non compaction cardiomyopathy (A04)

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Human left ventricular non-compaction cardiomyopathy (LVNC-CM) is a common, yet understudied, heart disease. Many LVNC-CM mutations impact developmental genes, including lamin A, suggesting that these cardiomyopathies have a developmental origin. Here, state-of-the-art 3D left-ventricle organoids and genome engineering are combined to model lamin A mutations. The impact of patient mutations on the differentiation and function of the left ventricle will be characterized using single-cell genomics. The impact of stress on the contractile properties of mutant organoids will be assessed. A04 will thereby reveal the mechanisms by which lamin A mutations predispose and induce LVNC disease.