Novel Insights Into Cardiocutaneous Syndromes

The document "Novel insights into cardiocutaneous syndromes" by Mathilde Vermeer explores the genetic and functional aspects of cardiocutaneous syndromes, focusing on desmoplakin (DSP) and Kelch-like protein 24 (KLHL24). The research highlights the dose-dependent severity of disease linked to DSP variants within a single family and the impact of a gain-of-function mutation in KLHL24 on desmin degradation and dilated cardiomyopathy. Additionally, it discusses how dynamic loading of engineered heart tissue can enhance contractile function and drive disease phenotypes. The findings underscore the necessity of functional studies in understanding the genetics of cardiomyopathy with skin disease.