Publications by authors named "Julie Proukhnitzky"
Article Synopsis
- - The study compares genotypes between pediatric cardiomyopathy (pCM) and adult-onset cardiomyopathy (aCM) to understand why pCM has earlier onset and differs in severity.
- - Analysis of 253 pCM patients revealed a higher rate of genetic variants, particularly in restrictive pCM, and identified critical risk factors for adverse outcomes such as early diagnosis and presence of multiple variants.
- - Genetic testing not only clarified the genetic basis for pCM but also enhanced genetic counseling for families, resulting in cases of prenatal diagnosis.
Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR or acquired wild-type ATTR form. Genetic testing is critical for determining a hereditary predisposition and subsequently initiating appropriate family screening.
View Article and Find Full Text PDFArticle Synopsis
- SCN5A gene variants are linked to various cardiac electrical disorders, but they can also result in complex phenotypes like overlap syndromes, which haven't been thoroughly studied.
- The study analyzed DNA from over 13,500 patients with a focus on those carrying pathogenic SCN5A variants, finding that most were tied to well-defined conditions like Brugada syndrome and long QT syndrome.
- About 19% of the variants were associated with complex phenotypes, and only a small number (8 out of 9,960 patients) showed a potential link to dilated cardiomyopathies (DCM), suggesting it's a rare association.
Background: With the development of advanced sequencing techniques, genetic testing has emerged as a valuable tool for the work-up of non-ischaemic sudden cardiac arrest (SCA).
Aims: To evaluate the effectiveness of genetic testing in patients with unexplained SCA, according to clinical phenotype.
Methods: All patients who underwent molecular genetic testing for non-ischaemic SCA with no left ventricular cardiomyopathy between 2012 and 2021 in two French university hospitals were included.
Aims: Inherited cardiomyopathies are relatively rare but carry a high risk of cardiac maternal morbidity and mortality during pregnancy and postpartum. However, data for risk stratification are scarce. The new CARPREG II score improves prediction of prognosis in pregnancies associated with heart disease, though its role in inherited cardiomyopathies is unclear.
View Article and Find Full Text PDFSaw-tooth cardiomyopathy is a very rare disease, and only few cases have been published since its first description 10 years ago. We report the clinical presentation, imaging features and genetic analysis of a saw-tooth cardiomyopathy and argues that it should not be confused with left-ventricular noncompaction. ().
View Article and Find Full Text PDFRationale: Fibro-fatty infiltration of subepicardial layers of the atrial wall has been shown to contribute to the substrate of atrial fibrillation.
Objective: Here, we examined if the epicardium that contains multipotent cells is involved in this remodeling process.
Methods And Results: One hundred nine human surgical right atrial specimens were evaluated.