A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.

The Ehlers-Danlos Syndromes (EDS) are a group of inherited connective tissue disorders with a worldwide prevalence of 1 in 2500 to 1 in 5000 births irrespective of sex or ethnicity. Fourteen subtypes of Ehlers-Danlos Syndrome (EDS) have been described, each with characteristic phenotypes and associated genes. Pathogenic variants in COL5A1 and COL5A2 cause the classical EDS subtypes. Pathogenic variants in COL3A1 cause vascular EDS. In this case report, we describe a patient with a phenotype resembling that of vascular EDS, caused by a novel pathogenic variant in COL5A1.

Atrio-Ventricular Dyssynchrony After Cardiac Resynchronization Therapy: An Unusual Contributor to Heart Failure Symptoms.

Cardiac resynchronization therapy (CRT) is the mainstay for the management of systolic heart failure with LVEF <35% and evidence of dyssynchrony despite optimal medical therapy. After CRT placement, persistent dyssynchronization is possible and can contribute to heart failure symptoms despite a well-functioning CRT device. Echo-guided imaging can be beneficial for the optimization of CRT in selected patients who have evidence of continued dyssynchrony despite a well-functioning CRT device.