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Keywords Cardiovascular genetic risk te...

Cardiovascular genetic risk testing

https://read.qxmd.com/read/38521406/genetic-testing-in-kidney-transplantation-helped-develop-a-morbidity-gene-panel-for-evaluation-of-kidney-transplant-recipients
#1
JOURNAL ARTICLE
Becky M Ma, Naama Elefant, Martina Tedesco, Kelsie Bogyo, Natalie Vena, Sarath K Murthy, Shiraz A Bheda, Sandy Yang, Nikita Tomar, Jun Y Zhang, Syed Ali Husain, Sumit Mohan, Krzysztof Kiryluk, Hila Milo Rasouly, Ali G Gharavi
Cardiovascular disease, infection, malignancy, and thromboembolism are major causes of morbidity and mortality in kidney transplant recipients (KTR). Prospectively identifying monogenic conditions associated with post-transplant complications may enable personalized management. Therefore, we developed a transplant morbidity panel (355 genes) associated with major post-transplant complications including cardiometabolic disorders, immunodeficiency, malignancy, and thrombophilia. This gene panel was then evaluated using exome sequencing data from 1590 KTR...
March 21, 2024: Kidney International
https://read.qxmd.com/read/38516780/clinical-guideline-for-preimplantation-genetic-testing-in-inherited-cardiac-diseases
#2
JOURNAL ARTICLE
Job A J Verdonschot, Debby M E I Hellebrekers, Vanessa P M van Empel, Malou Heijligers, Sonja de Munnik, Edith Coonen, Jos C M F Dreesen, Arthur van den Wijngaard, Han G Brunner, Masoud Zamani Esteki, Stephane R B Heymans, Christine E M de Die-Smulders, Aimée D C Paulussen
BACKGROUND: Preimplantation genetic testing (PGT) is a reproductive technology that selects embryos without (familial) genetic variants. PGT has been applied in inherited cardiac disease and is included in the latest American Heart Association/American College of Cardiology guidelines. However, guidelines selecting eligible couples who will have the strongest risk reduction most from PGT are lacking. We developed an objective decision model to select eligibility for PGT and compared its results with those from a multidisciplinary team...
March 22, 2024: Circulation. Genomic and Precision Medicine
https://read.qxmd.com/read/38510747/lipoprotein-a-an-important-piece-of-the-ascvd-risk-factor-puzzle-across-diverse-populations
#3
JOURNAL ARTICLE
Nicole Ciffone, Catherine J McNeal, Mary P McGowan, Keith C Ferdinand
Elevated lipoprotein(a) (Lp[a]) is an independent, genetic risk factor for atherosclerotic cardiovascular disease (ASCVD) that impacts ~1.4 billion people globally. Generally, Lp(a) levels remain stable over time; thus, most individuals need only undergo Lp(a) testing through a non-fasting blood draw once in their lifetime, unless elevated Lp(a) is identified. Despite the convenience of the test for clinicians and patients, routine Lp(a) testing has not been widely adopted. This review provides a guide to the benefits of Lp(a) testing and solutions for overcoming common barriers in practice, including access to testing and lack of awareness...
February 2024: American heart journal plus: cardiology research and practice
https://read.qxmd.com/read/38506362/-diagnosis-and-treatment-of-elevated-lipoprotein-a-in-israel-consensus-statement-from-the-israel-society-for-research-prevention-and-treatment-of-atherosclerosis-and-israel-society-for-clinical-laboratory-sciences
#4
JOURNAL ARTICLE
Barak Zafrir, Ronen Durst, Clara Henig, Yaakov Henkin, Elena Itzhakov, Marielle Kaplan, Dov Gavish
Lipoprotein(a) [Lp(a)] is composed of 2 major protein components, a low-density lipoprotein (LDL) cholesterol-like particle containing apolipoprotein B (apo B) that is covalently bound to apolipoprotein(a). Its level is predominantly genetically determined, and it is estimated that 20% to 25% of the population have Lp(a) levels that are associated with increased cardiovascular risk. Elevated Lp(a) is related to increased vascular inflammation, calcification, atherogenesis and thrombosis, and is considered an independent and potentially causal risk factor for atherosclerotic cardiovascular diseases and calcified aortic valve stenosis...
March 2024: Harefuah
https://read.qxmd.com/read/38506081/reproductive-carrier-screening-identifying-families-at-risk-for-familial-hypercholesterolemia-in-the-united-states
#5
JOURNAL ARTICLE
Vivienne Souter, Emily Becraft, Samantha Brummit, Bryan Gall, Brittany Prigmore, Yang Wang, Peter Benn
BACKGROUND: Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the LDLR gene in female individuals receiving reproductive carrier screening. METHODS: This retrospective observational study included samples from female patients (aged 18-55 years) receiving a 274-gene carrier screening panel from January 2020 to September 2022. LDLR exons and their 10 base pairs flanking regions were sequenced...
March 20, 2024: Circulation. Genomic and Precision Medicine
https://read.qxmd.com/read/38501269/current-and-emerging-monoclonal-antibodies-for-treating-familial-hypercholesterolemia-in-children
#6
REVIEW
M Doortje Reijman, D Meeike Kusters, Albert Wiegman
INTRODUCTION: Heterozygous familial hypercholesterolemia (HeFH) is a common genetic disorder caused by pathogenic variants in the LDL-C metabolism. Lifelong exposure to elevated LDL-C levels leads to a high risk of premature cardiovascular disease. To reduce that risk, children with HeFH should be identified and treated with lipid-lowering therapy. The cornerstone consists of statins and ezetimibe, but not in all patients this lowers the LDL-C levels to treatment targets. For these patients, more intensive lipid-lowering therapy is needed...
March 19, 2024: Expert Opinion on Biological Therapy
https://read.qxmd.com/read/38495666/the-impact-of-pregnancy-in-patients-with-thoracic-aortic-disease-epidemiology-risk-assessment-and-management-considerations
#7
REVIEW
Valeria E Duarte, Jessica N Richardson, Michael N Singh
Thoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-blockade and strict blood pressure control, is essential throughout pregnancy...
2024: Methodist DeBakey Cardiovascular Journal
https://read.qxmd.com/read/38495193/unlocking-stroke-prediction-harnessing-projection-based-statistical-feature-extraction-with-ml-algorithms
#8
JOURNAL ARTICLE
Saad Sahriar, Sanjida Akther, Jannatul Mauya, Ruhul Amin, Md Shahajada Mia, Sabba Ruhi, Md Shamim Reza
Non-communicable diseases, such as cardiovascular disease, cancer, chronic respiratory diseases, and diabetes, are responsible for approximately 71% of all deaths worldwide. Stroke, a cerebrovascular disorder, is one of the leading contributors to this burden among the top three causes of death. Early recognition of symptoms can encourage a balanced lifestyle and provide essential information for stroke prediction. To identify a stroke patient and risk factors, machine learning (ML) is a key tool for physicians...
March 15, 2024: Heliyon
https://read.qxmd.com/read/38484827/toxicity-of-minoxidil-comprehensive-in-silico-prediction-of-main-toxicity-endpoints-acute-toxicity-irritation-of-skin-and-eye-genetic-toxicity-health-effect-cardiotoxicity-and-endocrine-system-disruption
#9
JOURNAL ARTICLE
Adrian Frydrych, Kamil Jurowski
This article focusses on elucidating the toxicological profile of minoxidil, a widely used pharmacological agent for alopecia, through the application of in silico methods (Percepta ACD/Labs software). This research is driven by the need to understand key toxicological endpoints: acute toxicity, skin and eye irritation, genetic toxicity, cardiotoxicity, disruption of the endocrine system, and estimation of various health effects due to the lack of experimental data for this drug. These parameters are critically evaluated to meet the stringent requirements of the pharmaceutical industry's safety assessments...
March 12, 2024: Chemico-biological Interactions
https://read.qxmd.com/read/38480692/can-flow-proneness-be-protective-against-mental-and-cardiovascular-health-problems-a-genetically-informed-prospective-cohort-study
#10
JOURNAL ARTICLE
Emma Gaston, Fredrik Ullén, Laura W Wesseldijk, Miriam A Mosing
Flow is a phenomenon where one experiences optimal challenge, marked by an intense, effortless, and rewarding concentration on a task. Past research shows that flow proneness is associated with good mental and cardiovascular health. However, this research has been primarily cross-sectional, based on self-report data, and has not controlled for potential confounding effects of neuroticism. In a large, longitudinal twin sample (N = 9361), we used nationwide patient registry data to test whether flow proneness predicted registry-based diagnoses of depression, anxiety, schizophrenia, bipolar disorder, stress-related disorders, or cardiovascular diseases...
March 13, 2024: Translational Psychiatry
https://read.qxmd.com/read/38480670/heritable-thoracic-aortic-disease-a-literature-review-on-genetic-aortopathies-and-current-surgical-management
#11
REVIEW
Alexander C Mills, Harleen K Sandhu, Yuki Ikeno, Akiko Tanaka
Heritable thoracic aortic disease puts patients at risk for aortic aneurysms, rupture, and dissections. The diagnosis and management of this heterogenous patient population continues to evolve. Last year, the American Heart Association/American College of Cardiology Joint Committee published diagnosis and management guidelines for aortic disease, which included those with genetic aortopathies. Additionally, evolving research studying the implications of underlying genetic aberrations with new genetic testing continues to become available...
March 14, 2024: General Thoracic and Cardiovascular Surgery
https://read.qxmd.com/read/38476290/the-role-of-detailed-medical-history-for-the-early-diagnosis-of-familial-bradycardia-in-a-patient-with-associated-atrial-fibrillation-case-report
#12
Andreea Ciacaru, Anna Tusa, Annamaria Magdas, Cristian Podoleanu
BACKGROUND: Bradycardia represents a frequent reason for medical presentation and has a complex aetiology, including genetic disorders, like LMNA mutation. LMNA mutation is responsible for laminopathies, including LMNA -cardiomyopathy. Cardiac involvement is prevalent and is linked to dilated cardiomyopathy associated with conduction block, which is anticipated by bradyarrhythmia and supraventricular tachyarrhythmia. LMNA mutation carriers have higher risk for sudden cardiac death (SCD), malignant ventricular tachycardia, and extreme bradycardia...
March 2024: European Heart Journal. Case Reports
https://read.qxmd.com/read/38471098/association-of-tenascin-c-gene-polymorphisms-with-risk-of-acute-coronary-syndrome-in-south-indian-population-a-case-control-genetic-association-study
#13
JOURNAL ARTICLE
Sankar Abirami, Prashant Shankarrao Adole, Kolar Vishwanath Vinod
Background: The extracellular matrix (ECM) glycoprotein changes are associated with the pathogenesis and complications of atherosclerosis, leading to acute coronary syndrome (ACS). Tenascin-C (TNC), an ECM protein, has been implemented in the pathogenesis, diagnosis, and prognosis of patients with cardiovascular disease. Aim: The study aimed to compare the genetic variants of the TNC gene (rs13321, rs2104772, and rs12347433) between South Indians with ACS and healthy participants. Materials and Methods: This case-control study recruited 150 ACS patients as cases and 150 healthy participants as controls...
March 12, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38471013/genetically-predicted-body-mass-index-and-mortality-in-copd
#14
JOURNAL ARTICLE
Jingzhou Zhang, Matthew Moll, Brian D Hobbs, Per Bakke, Elizabeth A Regan, Hanfei Xu, Josée Dupuis, Joe W Chiles, Merry-Lynn N McDonald, Miguel J Divo, Edwin K Silverman, Bartolome R Celli, George T O'Connor, Michael H Cho
RATIONALE: BMI is associated with COPD mortality, but the underlying mechanisms are unclear. The effect of genetic variants aggregated into a polygenic score may elucidate causal mechanisms and predict risk. OBJECTIVES: To examine the associations of genetically predicted BMI with all-cause and cause-specific mortality in COPD. METHODS: We developed a polygenic score for BMI (PGSBMI ) and tested for associations of the PGSBMI with all-cause, respiratory, and cardiovascular mortality in participants with COPD from the COPDGene, ECLIPSE, and Framingham Heart studies...
March 12, 2024: American Journal of Respiratory and Critical Care Medicine
https://read.qxmd.com/read/38446445/deep-learning-augmented-ecg-analysis-for-screening-and-genotype-prediction-of-congenital-long-qt-syndrome
#15
JOURNAL ARTICLE
River Jiang, Christopher C Cheung, Marta Garcia-Montero, Brianna Davies, Jason Cao, Damian Redfearn, Zachary M Laksman, Steffany Grondin, Joseph Atallah, Carolina A Escudero, Julia Cadrin-Tourigny, Shubhayan Sanatani, Christian Steinberg, Jacqueline Joza, Robert Avram, Rafik Tadros, Andrew D Krahn
IMPORTANCE: Congenital long QT syndrome (LQTS) is associated with syncope, ventricular arrhythmias, and sudden death. Half of patients with LQTS have a normal or borderline-normal QT interval despite LQTS often being detected by QT prolongation on resting electrocardiography (ECG). OBJECTIVE: To develop a deep learning-based neural network for identification of LQTS and differentiation of genotypes (LQTS1 and LQTS2) using 12-lead ECG. DESIGN, SETTING, AND PARTICIPANTS: This diagnostic accuracy study used ECGs from patients with suspected inherited arrhythmia enrolled in the Hearts in Rhythm Organization Registry (HiRO) from August 2012 to December 2021...
March 6, 2024: JAMA Cardiology
https://read.qxmd.com/read/38444303/digital-droplet-pcr-versus-quantitative-pcr-for-lipoprotein-a-kringle-iv-type-2-repeat-polymorphism-genetic-characterization
#16
JOURNAL ARTICLE
Giulia Barbieri, Giulia Cassioli, Ada Kura, Rebecca Orsi, Alberto Magi, Martina Berteotti, Giusi Maria Scaturro, Elena Lotti, Anna Maria Gori, Rossella Marcucci, Betti Giusti, Elena Sticchi
BACKGROUND: Lipoprotein(a) [Lp(a)] level variability, related to atherothrombotic risk increase, is mainly attributed to LPA gene, encoding apolipoprotein(a), with kringle IV type 2 (KIV2) copy number variation (CNV) acting as the primary genetic determinant. Genetic characterization of Lp(a) is in continuous growth; nevertheless, the peculiar structural characteristics of this variant constitute a significant challenge to the development of effective detection methods. The aim of the study was to compare quantitative real-time PCR (qPCR) and digital droplet PCR (ddPCR) in the evaluation of KIV2 repeat polymorphism...
March 5, 2024: Journal of Clinical Laboratory Analysis
https://read.qxmd.com/read/38437179/sex-specific-and-polygenic-effects-underlying-resting-heart-rate-and-associated-risk-of-cardiovascular-disease
#17
JOURNAL ARTICLE
Ada N Nordeidet, Marie Klevjer, Karsten Øvretveit, Erik Madssen, Ulrik Wisløff, Ben M Brumpton, Anja Bye
AIMS: Resting heart rate (RHR) is associated with cardiovascular disease (CVD) and mortality. This study aimed to identify genetic loci associated with RHR, develop a genome-wide polygenic risk score (PRS) for RHR, and assess associations between the RHR PRS and CVD outcomes, to better understand the biological mechanisms linking RHR to disease. Sex-specific analyses were conducted to potentially elucidate different pathways between the sexes. METHODS: We performed a genome-wide meta-analysis of RHR (n=550,467) using two independent study populations, The Trøndelag Health Study (HUNT) and the UK Biobank (UKB), comprising 69,155 and 481,312 participants, respectively...
March 4, 2024: European Journal of Preventive Cardiology
https://read.qxmd.com/read/38434565/nomogram-developed-with-apoa5-genetic-variant-rs662799-and-clinical-characteristics-predicting-risk-of-essential-hypertension-in-a-chinese-population
#18
JOURNAL ARTICLE
Dilihumaer Abulaiti, Shajidan Abudureyimu, Hui Li, Yan Cao, Ying Gao
BACKGROUND: The apolipoprotein A5 ( APOA5 ) gene has been identified as a key regulatory factor in triglyceride (TG) metabolism and plasma lipid levels. Genetic polymorphisms of APOA5 have been linked to an elevated risk of atherosclerosis, metabolic syndrome, stroke, and coronary artery disease. The rs662799 variant is a single nucleotide polymorphism (SNP) that occurs at a specific position within the APOA5 gene. However, the association between rs662799 polymorphism and essential hypertension (EHT) remains unclear...
February 15, 2024: Cardiovascular Diagnosis and Therapy
https://read.qxmd.com/read/38433754/prenatal-diagnosis-and-clinical-management-of-cardiac-rhabdomyoma-a-single-center-study
#19
JOURNAL ARTICLE
Longzhuang Peng, Youchun Cai, Jianhang Wu, Wen Ling, Qiumei Wu, Shan Guo, Biying Huang, Caihong Jiang, Zongjie Weng
OBJECTIVE: The study aims to assess the ultrasonic features of fetal cardiac rhabdomyoma (CR), track the perinatal outcome and postnatal disease progression, investigate the clinical utility of ultrasound, MRI and tuberous sclerosis complex (TSC) gene analysis in CR evaluation, and offer evidence for determing of fetal CR prognosis. METHODS: We conducted a retrospective analysis of prenatal ultrasound-diagnosed fetal CR cases in our hospital from June 2011 to June 2022, tracked the perinatal outcomes, regularly followed live infants to analyze cardiac lesion changes and disease progression, and compared the sensitivities of ultrasound, MRI and their combination in the detecting of intracranial sclerosing nodules...
2024: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/38427739/genetic-determinants-of-blood-pressure-and-heart-rate-identified-through-enu-induced-mutagenesis-with-automated-meiotic-mapping
#20
JOURNAL ARTICLE
Samantha K Teixeira, Roberto Pontes, Luiz Fernando G Zuleta, Jianhui Wang, Darui Xu, Sara Hildebrand, Jamie Russell, Xiaoming Zhan, Mihwa Choi, Miao Tang, Xiaohong Li, Sara Ludwig, Bruce Beutler, Jose E Krieger
We used N -ethyl- N -nitrosurea-induced germline mutagenesis combined with automated meiotic mapping to identify specific systolic blood pressure (SBP) and heart rate (HR) determinant loci. We analyzed 43,627 third-generation (G3) mice from 841 pedigrees to assess the effects of 45,378 variant alleles within 15,760 genes, in both heterozygous and homozygous states. We comprehensively tested 23% of all protein-encoding autosomal genes and found 87 SBP and 144 HR (with 7 affecting both) candidates exhibiting detectable hypomorphic characteristics...
March 2024: Science Advances
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