Publications by authors named "Sophie Hespe"
Article Synopsis
- Pathogenic variants in the desmoplakin (DSP) gene lead to a unique type of cardiomyopathy that doesn't fit neatly into existing categories like DCM, NDLVC, or ARVC, with limited past studies on potential predictors of severe outcomes.
- Researchers analyzed 800 patients with DSP variants from a global network over an average of 3.7 years, finding that 17.4% experienced sustained ventricular arrhythmias (VAs) and 9.0% had heart failure (HF) hospitalizations.
- Key risk factors for developing VAs included female sex, history of non-sustained and sustained VAs, and lower left ventricular ejection fraction, while T-wave inversion was linked to HF
Background: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ~1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity. Here we report work by the ClinGen Hereditary Cardiovascular Disorders Gene Curation Expert Panel (HCVD-GCEP) to reappraise the clinical validity of previously curated and new putative HCM genes.
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- Pathogenic variants in the desmoplakin (DSP) gene are linked to a specific type of arrhythmogenic cardiomyopathy, which increases the risk of serious heart rhythm issues, but current evaluation methods are unreliable for these patients.
- A study was conducted with patients from the DSP-ERADOS registry to track the occurrence of sustained ventricular arrhythmia (VA) over time, using a detailed statistical analysis to create a new clinical prediction tool.
- The research identified five key clinical factors that can help predict the risk of developing sustained VA, resulting in a new DSP risk score that demonstrated strong prediction capabilities in both the initial and external testing groups.
Inherited cardiomyopathies are a heterogeneous group of heart muscle conditions where disease classification has traditionally been based on clinical characteristics. However, this does not always align with genotype. While there are well described challenges of genetic testing, understanding the role of genotype in patient management is increasingly required.
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- * The study finds that a history of nonsustained ventricular tachycardia is a strong predictor of future VA occurrences, although traditional risk factors such as age and male sex do not show a significant association with VA events.
- * The ARVC risk calculator, which is intended to evaluate the risk of VA, performs inadequately in this patient population, highlighting the need for a more tailored, gene-specific risk
Background: encodes for filamin-C, a protein expressed in Z-discs of cardiac and skeletal muscle, involved in intracellular signalling and mechanical stabilization. Variants can cause diverse phenotypes with skeletal (myofibrillar or distal myopathy) and/or cardiac (hypertrophic, restrictive, and arrhythmogenic cardiomyopathies) manifestations. Truncating variants have recently been implicated in arrhythmogenic cardiomyopathy (ACM) without skeletal disease.
View Article and Find Full Text PDFBackground: The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and management among consecutive individuals attending a specialised clinic and identify those with the highest likelihood of having a monogenic disease.
Methods: A retrospective audit of 1697 consecutive, unrelated probands referred to a specialised, multidisciplinary clinic between 2002 and 2020 was performed.