Diagnostics, Journal Year: 2024, Volume and Issue: 14(23), P. 2709 - 2709
Published: Nov. 30, 2024
: Cardiomyopathy, including dilated cardiomyopathy (DCM) and hypertrophic (HCM), is a major cause of heart failure (HF) leading indication for transplantation. Of these patients, 20-50% have genetic cause, so understanding the basis will provide knowledge about pathogenesis disease diagnosis, treatment, prevention, counseling families.
Language: Английский
The American Journal of Human Genetics, Journal Year: 2025, Volume and Issue: 112(3), P. 461 - 466
Published: March 1, 2025
Language: Английский
Citations
0
The American Journal of Human Genetics, Journal Year: 2025, Volume and Issue: unknown
Published: March 1, 2025
Language: Английский
Citations
0
Circulation Genomic and Precision Medicine, Journal Year: 2025, Volume and Issue: unknown
Published: March 28, 2025
In recent years, there has been a considerable influx of publications assessing the penetrance pathogenic variants associated with monogenic diseases dominant inheritance. As large and diverse groups have sequenced, it become clear that incomplete is common to most hereditary diseases, as numerous molecular, genetic, or environmental factors can cause clinical diversity among carriers same variant. this review, we discuss some these focus on existing approaches estimating penetrance, depending data available their application different sets. We also list currently large-scale sets estimates.
Language: Английский
Citations
0
Genetics in Medicine, Journal Year: 2023, Volume and Issue: 26(3), P. 101051 - 101051
Published: Dec. 19, 2023
The UK 100,000 Genomes Project offered participants screening for additional findings (AFs) in genes associated with familial hypercholesterolemia (FH) or hereditary cancer syndromes including breast/ovarian (HBOC), Lynch, adenomatous polyposis, MYH-associated multiple endocrine neoplasia (MEN), and von Hippel-Lindau. Here, we report disclosure processes, manifestation of AF-related disease, outcomes, costs.
Language: Английский
Citations
8
Journal of Genetic Counseling, Journal Year: 2024, Volume and Issue: unknown
Published: Nov. 1, 2024
Abstract Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death. Genetic testing for HCM increasingly available due advances DNA sequencing technologies reduced costs. While diagnosis of well‐supported indication genetic counseling, incorporation services into the setting often limited outside expert centers. As counseling become accessible convenient, optimal integration genomic data care should be instituted, delivery via counseling. Drawing on recommendations from recent disease guidelines systematic evidence reviews, we highlight key This practice resource provides comprehensive framework guide healthcare providers process test selection, variant classification, cascade evaluation HCM.
Language: Английский
Citations
1
The American Journal of Human Genetics, Journal Year: 2024, Volume and Issue: 111(12), P. 2618 - 2642
Published: Dec. 1, 2024
Language: Английский
Citations
1
Journal of Cardiovascular Translational Research, Journal Year: 2024, Volume and Issue: 17(5), P. 1119 - 1139
Published: May 21, 2024
Abstract Heart failure (HF) remains a major cause of mortality and morbidity worldwide. Understanding the genetic basis HF allows for development disease-modifying therapies, more appropriate risk stratification, personalised management patients. The advent next-generation sequencing has enabled genome-wide association studies; moving beyond rare variants identified in Mendelian fashion detecting common DNA associated with disease. We summarise latest GWAS variant data on mixed refined aetiologies, cardiomyopathies. describe recent understanding functional impact titin highlight FHOD3 as novel cardiomyopathy-associated gene. future directions research this field how can be leveraged to improve care patients HF. Graphical
Language: Английский
Citations
1
Journal of the American Heart Association, Journal Year: 2024, Volume and Issue: unknown
Published: Oct. 18, 2024
Precision medicine, which among other aspects includes an individual's genomic data in diagnosis and management, has become the standard‐of‐care for Mendelian cardiovascular disease (CVD). However, early identification management of asymptomatic patients with potentially lethal manageable CVD through screening, is promise precision health, remains unsolved challenge. The reduced costs sequencing have enabled creation biobanks containing in‐depth genetic health information, facilitated understanding variation, penetrance, expressivity, moving us closer to genotype‐first screening individuals CVD. This approach could transform care by diagnostic refinement facilitating prevention or therapeutic interventions. Yet, potential benefits must be weighed against risks, include evolving variant pathogenicity assertion variants low penetrance; costly, stressful, inappropriate evaluations; negative psychological impact; disqualification employment competitive sports; denial insurance. Furthermore, natural history often unpredictable, making those who will benefit from preventive measures a priority. Currently, there insufficient evidence that population‐based can reduce adverse outcomes at reasonable cost extent outweighs harms true‐positive false‐positive results. Besides technical, clinical, financial burdens, ethical legal pose unprecedented challenges. review highlights key developments field approaches summarizes challenges solutions pave way implementing this clinical care.
Language: Английский
Citations
1
International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(21), P. 11460 - 11460
Published: Oct. 25, 2024
Dilated cardiomyopathy (DCM) is characterized by reduced systolic function and cardiac dilation. Cases without an identified secondary cause are classified as idiopathic dilated (IDC). Over the last 35 years, many cases of IDC have increasingly been recognized to be genetic in etiology with a core set definitively causal genes up 40% cases. While over 200 associated DCM, evidence supporting pathogenicity for most remains limited. Further, rapid advances sequencing bioinformatics recently revealed complex spectrum ranging from monogenic polygenic DCM. These also led discovery modifier variants forms DCM (e.g., alcohol-induced cardiomyopathy). Current guidelines recommend counseling screening, well endorsing handful genotype-specific therapies device placement
Language: Английский
Citations
1
PLoS ONE, Journal Year: 2023, Volume and Issue: 18(9), P. e0290336 - e0290336
Published: Sept. 21, 2023
Next-generation sequencing has led to an explosion of genetic findings for many rare diseases. However, most the variants identified are very and were also in small pedigrees, which creates challenges terms penetrance estimation translation into counselling setting cascade testing. We use simulations show that a (dominant) disorder where variant is number estimate can both have large uncertainty be drastically inflated, due underlying ascertainment bias. developed PenEst, app allows users investigate phenomenon across ranges parameter settings. illustrate robust corrections via LOD (logarithm odds) score, recommend LOD-based approach assessing pathogenicity presence reduced penetrance.
Language: Английский
Citations
2