Uncovering the Genetic Etiology of the (Posttherapy) Broken Heart.
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ABSTRACT:
SUBMITTER: Linet MS
PROVIDER: S-EPMC9360454 | biostudies-literature | 2022 Aug
REPOSITORIES: biostudies-literature
Publications
Uncovering the Genetic Etiology of the (Posttherapy) Broken Heart.
Linet Martha S MS Dores Graça M GM Savage Sharon A SA
Journal of the National Cancer Institute 20220801 8
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Project description: Not available
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Project description:Advanced heart failure is often accompanied by perturbations in cardiac chamber or valve geometries which result in worsening cardiac function and hemodynamics. Once limited to surgical procedures, recent developments in minimally invasive percutaneous techniques have demonstrated efficacy in patients with both reduced and preserved ejection fraction who are at an elevated surgical risk for perioperative events. This review highlights a subset of the interventions available in clinical practice or in development for the treatment of these valvular and structural alterations.
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Project description:Genetic Etiology of Hypoplastic Left Heart Syndrome (HLHS)
| PRJNA356955 | ENA
Project description:Congenital heart disease is the most common congenital defect observed in newborns. Within the spectrum of congenital heart disease are left-sided obstructive lesions (LSOLs), which include hypoplastic left heart syndrome, aortic stenosis, bicuspid aortic valve, coarctation of the aorta, and interrupted aortic arch. These defects can arise in isolation or as a component of a defined syndrome; however, nonsyndromic defects are often observed in multiple family members and associated with high sibling recurrence risk. This clear evidence for a heritable basis has driven a lengthy search for disease-causing variants that has uncovered both rare and common variants in genes that, when perturbed in cardiac development, can result in LSOLs. Despite advancements in genetic sequencing platforms and broadening use of exome sequencing, the currently accepted LSOL-associated genes explain only 10% to 20% of patients. Further, the combinatorial effects of common and rare variants as a cause of LSOLs are emerging. In this review, we highlight the genes and variants associated with the different LSOLs and discuss the strengths and weaknesses of the present genetic associations. Furthermore, we discuss the research avenues needed to bridge the gaps in our current understanding of the genetic basis of nonsyndromic congenital heart disease.
| S-EPMC7955312 | biostudies-literature
Project description:BackgroundMortality from myocardial infarction (MI) has been decreasing since the introduction of primary percutaneous intervention. Late complications still pose a dilemma, such as deterioration of left ventricle (LV) function, LV aneurysms, and LV thrombus formation. If not adequately managed in a timely manner, this can result in life-threatening consequences. Restoration of LV function by surgical resection of the infarcted LV wall is an option for a few complicated cases, with variable outcomes.Case summaryA 66-year-old man presented with dyspnoea 2 years after his initial MI, which was treated with a drug-eluting stent to his left circumflex artery. His Warfarin had been stopped after 6 months of treatment of a small LV thrombus, which was noted at the time of his initial infarction. His echocardiogram on admission demonstrated severe LV systolic impairment of 23% (which had deteriorated from 40%) with a giant true aneurysm of the basal to mid-lateral wall, which resembled a Valentine heart. The presence of a large, organized thrombus filling the aneurysm complicated the case further. The patient underwent a resection of the LV aneurysm and thrombus. He remained asymptomatic and maintained a significant improvement of his LV function to 47% at his 5 months scan.DiscussionThe importance of imaging post-large MI and follow-up imaging once thrombus resolution has occurred is crucial. Patients with large LV aneurysm associated with severe refractory LV impairment and LV thrombus should be considered for LV aneurysmectomy for prognostic benefit and symptom relief.
| S-EPMC9382566 | biostudies-literature
Project description: Not available
| S-EPMC4882998 | biostudies-literature
Project description:Congenital heart disease (CHD) is the most prevalent hereditary disorder, affecting approximately 1% of all live births. A reduction in morbidity and mortality has been achieved with advancements in surgical intervention, yet challenges in managing complications, extracardiac abnormalities, and comorbidities still exist. To address these, a more comprehensive understanding of the genetic basis underlying CHD is required to establish how certain variants are associated with the clinical outcomes. This will enable clinicians to provide personalized treatments by predicting the risk and prognosis, which might improve the therapeutic results and the patient's quality of life. We review how advancements in genome sequencing are changing our understanding of the genetic basis of CHD, discuss experimental approaches to determine the significance of novel variants, and identify barriers to use this knowledge in the clinics. Next-generation sequencing technologies are unravelling the role of oligogenic inheritance, epigenetic modification, genetic mosaicism, and noncoding variants in controlling the expression of candidate CHD-associated genes. However, clinical risk prediction based on these factors remains challenging. Therefore, studies involving human-induced pluripotent stem cells and single-cell sequencing help create preclinical frameworks for determining the significance of novel genetic variants. Clinicians should be aware of the benefits and implications of the responsible use of genomics. To facilitate and accelerate the clinical integration of these novel technologies, clinicians should actively engage in the latest scientific and technical developments to provide better, more personalized management plans for patients.
| S-EPMC10777202 | biostudies-literature
Project description:Background and Objectives Cardiovascular diseases have been the leading cause of death globally for decades. Pharmacological advances targeting the sympathetic nervous system, renin-angiotensin-aldosterone system, and fibrosis slow the progression of diverse cardiovascular diseases. However, ongoing cardiomyocyte loss is inevitable in divergent cardiovascular diseases, eventually leading to heart failure as the end stage. In this review, we focused on the key biomedical findings and underlying principles of cardiomyocyte regeneration. Methods Literature regarding the key findings in cardiomyocyte regeneration research, including controversies on the origins of newly formed cardiomyocytes, potential barriers and strategies to heart regeneration, and the key animals, models, and methods applied in the study of heart regeneration, were broadly researched using the PubMed and Web of Science databases. Key Content and Findings In the mammalian heart, cardiomyocytes proliferate during the embryonic and early postnatal stages, while the capability of proliferation disappears in the adult stage. An increasing amount of evidence suggests that cardiomyocytes self-renew at a very limited level and that most newly formed cardiomyocytes originate from pre-existing cardiomyocytes and not cardiac progenitor cells (CPCs). Several potential barriers to heart regeneration have been addressed, including metabolic switch, a large increase in multinucleated and polyploid cardiomyocytes, and alteration in the epigenome and transcriptome. In addition, immune system evolution is also associated with the loss of regenerative capacity. However, the activation of resident cardiomyocytes, somatic cell reprogramming, and direct reprogramming, in addition to the promotion of neovascularization and immune modulation, constitute the new insights into those strategies that can boost cardiac regeneration. Conclusions Heart regeneration is one of the most popular fields in cardiovascular research and represents a promising avenue of therapeutics for mending a broken heart. Despite the controversies and challenges, a clearer picture of adult mammalian cardiac regeneration is emerging.
| S-EPMC9708497 | biostudies-literature
Project description:ObjectivesPatients suffering from Takotsubo syndrome have a higher prevalence of anxiety and depressive disorders compared to those with acute myocardial infarction and might thus show impaired regulation and processing of emotions.MethodsIn this cross-sectional study, neural activity during an emotional picture processing task was examined in 26 Takotsubo patients (on average 27 months after the Takotsubo event) and 22 healthy age- and gender-matched control subjects undergoing functional magnetic resonance imaging. Imaging data were analyzed with two complementary approaches: First, univariate analysis was used to detect brain regions showing condition-specific differences in mean neural activity between groups. Second, multivariate pattern analysis was applied to decode the experimental conditions from individual activity patterns.ResultsIn the univariate analysis approach, patients showed lower bilateral superior parietal activity during the processing of negative expected pictures compared to the control subjects. The multivariate pattern analysis revealed group differences in decoding negative versus neutral pictures from a widespread network consisting of frontal, parietal, occipital, and cerebellar brain regions. Additionally, differences in decoding the expectation of a negative versus positive upcoming picture were observed in the visual cortex.ConclusionThe lower involvement of brain regions observed in Takotsubo patients suggests an impairment in emotion regulation, which might be of etiological importance in this brain-heart disease.
| S-EPMC6938811 | biostudies-literature