Publications by authors named "C A Eichstaedt"
Background: In healthy subjects, sex-differences in right heart function have already been detected for various echocardiographic parameters.
Research Question: The objective of the study was to investigate sex-differences in echocardiographic ESC/ERS risk stratification parameters and their impact on survival estimation in patients with pulmonary arterial hypertension (PAH).
Study Design And Methods: In this retrospective, cross-sectional study with a mean follow-up time of 3.
Purpose: Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by pathogenic variants, most frequently in the bone morphogenetic protein receptor type 2 ( ) gene. We formed a ClinGen variant curation expert panel to devise guidelines for the clinical interpretation of variants identified in PAH patients.
Methods: The general ACMG/AMP variant classification criteria were refined for PAH and adapted to following ClinGen procedures.
Article Synopsis
- A study on 325 pulmonary arterial hypertension (PAH) patients found mutations in 23% using a specific gene panel targeting 18 known PAH genes.
- Additional sequencing identified two variants in the SMAD5 gene, which were further characterized through various functional tests, confirming their expression and effects on cell behavior.
- One variant was linked to a familial history of PAH and resulted in increased cell viability, while the other variant, associated with congenital heart disease, led to reduced cell viability due to increased apoptosis; both were deemed likely pathogenic and indicate SMAD5 as a potential new PAH gene for diagnostic testing.
Article Synopsis
- * The revised 2022 guidelines from the European Society of Cardiology/European Respiratory Society address PH but only briefly consider the needs of adults with congenital heart defects.
- * The article aims to enhance understanding of ACHD management by exploring various aspects such as diagnostics, specialized therapies, and unique circumstances, thereby addressing gaps in current guidelines.
Article Synopsis
- * The 2022 guidelines by the European Society of Cardiology and the European Respiratory Society address PH management but only briefly cover the specific needs of adults with congenital heart defects.
- * This article reviews various aspects of ACHDs and PH, including their epidemiology, risk factors, and management challenges, aiming to enhance awareness and care strategies for this patient population.