Loss-of-Function Variants in Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.

Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of diseases caused by pathogenic variants in genes encoding different components of the extracellular matrix and characterized by pleiotropic manifestations, mainly affecting the cutaneous, cardiovascular, and musculoskeletal systems. We report the case of a 9-year-old boy with a discernible connective tissue disorder characterized by cutis laxa (CL) and multiple herniations and caused by biallelic loss-of-function variants in . Hence, we identified as a novel disease-causing gene in the CL spectrum, differentiating it from other HDCT.

Recent changes in practice of elective percutaneous coronary intervention for stable angina.

Background: The COURAGE (Clinical Outcomes Utilizing Revascularization and Aggressive Drug Evaluation) trial was designed to compare optimal medical therapy alone versus optimal medical therapy and percutaneous coronary intervention (PCI) for treatment of patients with stable coronary artery disease and showed equal efficacy for optimal medical therapy with or without PCI. The impact of results from the COURAGE trial on clinical practice is unknown.

Methods And Results: We analyzed 26 388 consecutive patients from the Northern New England Cardiovascular Disease PCI Registry who underwent PCI between January 2006 and June 2009.