Publications by authors named "R E Pyeritz"
Background: Pathogenic variants in may lead to a syndromic genetic aortopathy. Heritable thoracic aortic disease (HTAD) and arterial events may occur in -related disease but there are limited outcomes data on vascular events in this condition.
Methods: Clinical data, phenotypical features and aortic outcomes in individuals with pathogenic/likely pathogenic (P/LP) variants enrolled in the Montalcino Aortic Consortium registry were reviewed.
Research participants report interest in receiving genetic research results. How best to return results remains unclear. In this randomized pilot study, we sought to assess the feasibility of returning actionable research results through a two-step process including a patient-centered digital intervention as compared with a genetic counselor (GC) in the Penn Medicine biobank.
View Article and Find Full Text PDFAcute Aortic Dissection: Observational Lessons Learned From 11 000 Patients.
Circ Cardiovasc Qual Outcomes
September 2024
Background: Over the past 25 years, diagnosis and therapy for acute aortic dissection (AAD) have evolved. We aimed to study the effects of these iterative changes in care.
Methods: Patients with nontraumatic AAD enrolled in the International Registry of Acute Aortic Dissection (61 centers; 15 countries) were divided into time-based tertiles (groups) from 1996 to 2022.
Article Synopsis
- * A study analyzed 65 subjects and found that a VTI-h threshold of ≥15.5 can help discriminate between individuals at risk for cardiovascular issues, with a sensitivity of 70% and specificity of 76%.
- * Age influences cardiovascular event rates, with VTI-h ≥15.5 showing a stronger correlation to events in high-risk variants among individuals under 40, indicating that genetic factors may modify the relationship between tortuosity and
Background: Pathogenic variants in 11 genes predispose individuals to heritable thoracic aortic disease (HTAD), but limited data are available to stratify the risk for aortic events associated with these genes.
Objectives: This study sought to compare the risk of first aortic event, specifically thoracic aortic aneurysm surgery or an aortic dissection, among 7 HTAD genes and variant types within each gene.
Methods: A retrospective cohort of probands and relatives with rare variants in 7 genes for HTAD (n = 1,028) was assessed for the risk of first aortic events based on the gene altered, pathogenic variant type, sex, proband status, and location of recruitment.