128 research outputs found
Commentary: Peptide-Based Targeting of the L-Type Calcium Channel Corrects the Loss-of-Function Phenotype of Two Novel Mutations of the CACNA1 Gene Associated With Brugada Syndrome
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Early recurrence of atrial fibrillation after circumferential pulmonary vein ablation: Is it predictive of long-term unsuccessful outcome?
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Which is the optimal ablation endpoint for pulmonary vein disarticulation? Insight from circumferential pulmonary vein ablation for atrial fibrillation
Get PDFAtrial electro-anatomical remodeling as a predictor of the success of circumferential pulmonary vein ablation for atrial fibrillation
Get PDFCase report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age
Get PDFVascular Ehlers-Danlos syndrome (vEDS) is a genetic disease caused by a pathogenic mutation in the COL3A1 gene. Despite its severe course, the rarity and extreme clinical variability of the disease can pose significant obstacles to a timely diagnosis. Early and accurate diagnosis may lead to improved patient outcomes by providing access to targeted pharmacological treatments like celiprolol and enhancing the management of vEDS-related complications. Herein, we report a patient harboring a novel de novo COL3A1 missense variant, in which the diagnosis was only possible belatedly due to delayed referral for genetic evaluation. The patient developed pulmonary complications, aneurysms, and vascular malformations, and died at the age of 26 years due to massive pulmonary bleeding
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