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At least 19 recordsLinked to original sources
PubMed2024

Bidirectional association between abnormal cardiac conditions and epilepsy: A two-sample Mendelian randomization study.

BACKGROUND: Observational studies have consistently indicated a significant correlation between abnormal cardiac conditions and epilepsy. However, the association and direction of this relationship remain a subject of debate. This study employs a two-sample bidirectional Mendelian randomization (MR) approach to investigate the association between abnormal cardiac conditions and epilepsy. METHODS: Instrumental variables, represented by single nucleotide polymorphisms (SNPs) associated with epilepsy and various abnormal cardiac conditions, were derived from large-scale genome-wide association studies databases, including FinnGen and UK Biobank. Bidirectional MR analysis was conducted to estimate the association between epilepsy and abnormal cardiac conditions. Sensitivity analyses were performed using MR-Egger, weighted median, Inverse Variance Weighted, and MR pleiotropy residual sum and outlier methods. RESULTS: The forward MR analysis suggested a potential positive effect of atrial fibrillation and flutter (AF) and valvular heart diseases (VHD) on the risk of epilepsy. Conversely, the reverse MR analysis indicated that epilepsy might increase the susceptibility to AF, VHD, and heart failure. CONCLUSION: The findings support a bidirectional relationship between AF, VHD, and epilepsy, indicating that AF and VHD can elevate the risk of developing epilepsy, while epilepsy, in turn, can also increase the risk of developing AF and VHD. Furthermore, the study suggest that epilepsy may contribute to the development of heart failure. These results underscore the importance of screening for cardiac abnormalities in patients with epilepsy and vice versa, to better understand their clinical significance and potential as modifiable risk factors.

Humans↗
PubMed1978

[The heart and drug poisoning, excluding cardiologic treatments].

When considered strictly from the viewpoint of actions on the myocardium, the number of drugs falling into this category is limited, but the resulting conditions may be serious. The prototype for cardiac toxicity is the group of antimitotic drugs (adriamycin or daunomycin). If these drugs are used; frequent and careful follow-up is necessary, the dosage at which the drug becomes cumulative must be known; and patients with a pre-existing cardiac condition must be exluded from treatment. Above all, it is essential not to wait until asystole occurs, but to try to prevent such occurrences by monitoring the patient electrocardiographically. A part from these drugs, recent articles in the literature suggest that similar care should be taken when prescribing emetine and lithium salts. There is insufficient information about other drugs which may have a certain degree of cardiotoxicity. For this reason, it is most important to gather information on accidents and reaction during treatment.

Daunorubicin↗
PubMed2026

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.

Brugada syndrome (BrS) is an inherited cardiac condition characterized by a hallmark ECG pattern and an increased risk of sudden cardiac death. Central to the aetiology of BrS, the SCN5A region harbours both common non-coding risk variants and rare coding variants that are causative in approximately 20% of patients. However, rare non-coding genetic variation in this region remains largely unexplored. Here, we used whole-genome sequencing (WGS) of 752 European-ancestry BrS cases and 1,827 ancestry-matched controls to identify BrS-associated rare non-coding genetic variation at the SCN5A locus. Sliding-window and cis-regulatory element (CRE)-based rare-variant aggregate testing implicated three conserved CREs, including a dense aggregation of case singleton variants within a 178 bp enhancer in intron 17 of SCN5A which replicated in an independent BrS cohort. Prioritised BrS-associated rare and low-frequency non-coding variants within these elements were predicted to alter cardiac transcription factor motifs, and altered CRE activity in hiPSC-CM luciferase assays or were associated with BrS-relevant ECG endophenotypes in the UK Biobank. Single-variant analysis across the region identified a Bonferroni-significant five-fold case-enriched low-frequency variant within a known CRE in intron 1 of SCN5A, which replicated, was associated with slower cardiac conduction in the UK Biobank and accounted for part of the BrS GWAS signal at this locus. Structural variant analyses identified a 10.5 kb deletion upstream of SCN5A in a BrS case that encompassed a cardiac CRE and reduced sodium current density in a hiPSC-CM model, as well as a 6 kb BrS-enriched retrotransposon insertion in SCN5A that appeared to underlie part of the GWAS signal in this region. Together, these findings implicate rare and low-frequency non-coding variation at the SCN5A locus in BrS susceptibility and demonstrate the value of targeted WGS analysis of key disease loci.

Journal Article↗
PubMed1978

Apex sector echocardiography in evaluation of the right atrium in patients with mitral stenosis and atrial septal defect.

Cross-sectional echocardiography utilizing the four chamber apical view was used to evaluate right atrial dimensions as a means of detecting abnormal right heart hemodynamics in 20 patients with mitral stenosis, 5 patients with an atrial septal defect and 10 patients without heart disease. Right and left atrial dimensions on apex echocardiography were 40 mm or less in control subjects. There was a good correlation (r = 0.81) between left atrial size assessed with apex sector and M mode echocardiography. In patients with an atrial septal defect, the left atrium was of normal size on apex sector echocardiography; in patients with mitral stenosis, it was larger on apex echocardiography (59 +/- 9 mm) than on M mode echocardiography (51 +/- 8 mm). The right atrium was enlarged (54 +/- 5 mm) on apex echocardiography in all five patients with an atrial septal defect, but the right ventricle was enlarged in only four. Seventeen of 20 patients with mitral stenosis had an enlarged right atrium (53 +/- 7 mm) on apex echocardiography, whereas 15 had normal right ventricular dimensions (21 +/- 9 mm) on M mode echocardiography. Right atrial size on apex echocardiography was enlarged (54 +/- 6 mm) in 10 of 11 patients with mitral stenosis and pulmonary arterial hypertension. Thus, evaluation of the right atrial dimension with apex echocardiography may be more sensitive than M mode echocardiography in detecting early right heart involvement in specific cardiac conditions.

Adult↗
PubMed2025

Single-Cell Splicing Isoform Atlas of the Adult Human Heart and Heart Failure.

BACKGROUND: Alternative splicing plays crucial roles in normal heart development and cardiac disease by influencing protein-coding sequences, functional domains, and molecular networks. However, a detailed characterization of the human heart isoform landscape remains incomplete. METHODS: Leveraging long-read single-nucleus RNA sequencing and computational analysis, we dissected full-length isoform heterogeneities, expression patterns, and usage shifts across cell types, cell states, and cardiac conditions of the adult left ventricle. We applied in silico approaches to assess the functional relevance of identified isoforms; validated isoform compositions of representative cardiac genes using reverse transcription quantitative polymerase chain reaction and targeted amplicon sequencing; and developed a web server for interactive navigation of our results. RESULTS: The data revealed that isoform heterogeneity is widespread in the cardiac cellular system, serving as a posttranscriptional buffer mechanism that calibrates the molecule reservoirs in human hearts. In healthy left ventricles, ≈30% of cell type-specific genes were polyform, using multiple isoforms tailored to cell type-specific programs. Among ubiquitously expressed genes, >300 showed differential isoform usage with cell type specificity in normal hearts. Comparisons of cardiomyocytes across conditions uncovered 379 genes with marked isoform usage shifts, most of which are predicted to change protein coding outcomes through direct changes in protein coding sequences and switches between intron retention and non-protein-coding biotypes. In contrast, cell state-specific programs tend to operate on monoform genes associated with changes among cell states. In addition, our data revealed heart failure-associated differential isoform usage events in stromal and immune cell types in the cardiac microenvironment. CONCLUSIONS: We present a comprehensive atlas of splicing isoforms in the normal adult heart and heart failure through long-read single-nucleus RNA sequencing and computational analyses. The results suggest crucial roles of isoforms in buffering core cellular programs and contributing to disease-associated cell states. The full-length details of these cell-specific isoforms serve as an important reference for downstream translational and mechanistic studies and are available on our online data portal at https://github.com/gaolabtools/heart-isoform-atlas.

Humans↗
PubMed1978

Altered hemodynamic responses to acute hypoxemia in spontaneously hypertensive rats.

Conscious spontaneously hypertensive rats (SHR), 5--7 wk old, were studied hemodynamically by the direct Fick procedure to determine whether high total peripheral resistance (TPR) coexisted with increased oxygen consumption (QO2) at an early stage of hypertension development. Since under resting conditions cardiac output in SHR was not significantly different from normotensive controls, the elevated arterial pressure and QO2 were associated with increased TPR. Arterial hypoxemia was induced to reduce oxygen availability and to assess whether increased TPR in SHR could be reversed by this procedure. During hypoxemia, normotensive controls (WKY) responded with increased cardiac output and decreased arterial pressure and TPR. In contrast, arterial pressure and cardiac output fell in SHR; and the increased TPR persisted. QO2 fell in hypoxemic SHR demonstrating that the relationship between total body oxygen consumption and cardiac output was abnormal in young SHR, and that increased TPR in SHR was not dependent on resting levels of QO2 or oxygen availability. Although QO2 was elevated in SHR compared to age-matched WKY, this condition was not essential for maintained elevated vascular resistance.

Aging↗
PubMed1976

[Significance of Alfatesine in anesthesia for multiple dental extractions before major cardiac surgery].

This technique of anaesthesia used for oral surgical operations such as, multiple dental extractions, apical resection, carried out in cardiac patients before major cardiac surgery under extra-corporeal circulation, for insertion of valvular prostheses or aorto-coronary by-pass operations, has passed by various stages. The present technique associating phenoperidine-alfatesine-suxame-thonium-N2o-o2, was used in the last 58 cases. It presents a certain number of advantages compared with previous techniques: -very stable level of anaesthesia whatever the duration of the operation, -satisfactory cardio-vascular stability, -almost constant absence of hypo-excitability of the myocardium even in patients in poor cardiac condition before the operation with uninterrupted treatment with digitalis and diuretics, -good quality of awakening.

Adolescent↗
PubMed2025

Clinical and genetic variant re-analysis among pediatric probands undergoing genetic testing for arrhythmia syndromes.

BACKGROUND: Despite increases in genetic testing, longitudinal data regarding changes in diagnostic yield and variant reclassification for inherited arrhythmia syndromes are limited. OBJECTIVE: Determine longitudinal changes in diagnostic yield and variant classification. METHODS: Single-center retrospective study of probands <18 years undergoing genetic testing for suspected inherited cardiac conditions associated with arrhythmias, 2007 to 2018. Variants were classified as diagnostic (pathogenic/likely pathogenic), non-diagnostic (benign/likely benign [B/LB]), or variants of uncertain significance (VUS). Variant reclassification was performed in October 2023 using VarSome and American College of Medical Genetics criteria. We evaluated results by era (early 2007-2013 vs. later 2014-2018, coinciding with Sanger and next-generation sequencing, respectively) and by likelihood of disease based on clinical evaluation. RESULTS: Of 306 probands, initial testing was 23.2% diagnostic, 55.6% non-diagnostic (33.7% no variant, 21.9% B/LB), and 21.2% VUS. When comparing eras, diagnostic yield decreased (34.1%-15.3%), VUS increased (9.3%-29.9%), and non-diagnostic remained similar (55% to 57%). Variants for 22.7% (46/203) of probands with &#x2265;1 variant changed: 9.9% of diagnostic variants (7/71) downgraded to VUS or non-diagnostic, and 60.0% of VUS changed (23.1% upgraded, 36.9% downgraded). B/LB variants did not change. Probands with higher disease likelihood had 6-times the odds of diagnostic results compared to lower disease likelihood, regardless of era (odds ratio 6.3, 95% confidence interval 3.2-12.4, P < .0001). CONCLUSION: Variant reclassification led to changes in 23% of probands, both downgrading and upgrading status, even among probands initially thought to be pathogenic. When comparing later to earlier eras, VUS variants increased while diagnostic yield decreased. Findings support the need for variant re-interpretation and periodic reclassification over time.

Humans↗
PubMed1976

Body position, electrode level, and respiration effects on the Frank lead electrocardiogram.

Frank lead ECG/VCG changes with deep inspiration, expiration, and body position were investigated in 194 patients, 100 with an old myocardial infarction and the remaining 94 chosen as a representative sample of catheterization laboratory patients with a variety of cardiac conditions. In a subgroup of 144 of the patients, Frank lead records were made both at the fifth and the fourth intercostal space. Diagnostic interpretation was performed using the VA-Pipberger ECG Program. The results indicate that, in general, body position and electrode level influence on mean intervals and orientation angles is negligible. There was a highly significant decrease in the R and Q wave amplitudes in leads X and Z and in the maximum spatial magnitude of QRS when electrodes were shifted from the fifth to the fourth interspace. The most pronounced decrease in ECG/VCG amplitudes took place in deep inspiration while mean orientation angles changed little, with the exception of QRS elevation. However, while mean changes with body position and electrode level were rather small, substantial orientation and magnitude changes took place in many patients. Diagnostic interpretation of the records changed in 12.5% with electrode level change, in 11.9% with the transition of body position, and in 16.8% with deep inspiration. Strict standardization of electrode positions and recording procedure is suggested, particularly when serial comparison of Frank lead records is planned.

Adolescent↗
PubMed2025

What Should a Clinical Cardiologist Know About Cardiogenetics?

Inherited cardiovascular diseases are becoming increasingly prominent in clinical practice, significantly impacting diagnosis, risk assessment, and family screening strategies. Progress in genetic testing has broadened access to cardiogenetic evaluations, while also presenting new challenges in interpreting variants and incorporating findings into clinical care. This narrative review explores 20 essential questions that clinical cardiologists may face when dealing with suspected or confirmed inherited cardiac conditions. Organized as a practical, question-driven guide, it outlines when to consider a genetic cause, how to choose and interpret genetic tests, and how to manage patients regardless of their genetic test results. The review emphasizes variant classification based on American College of Medical Genetics and Genomics criteria, the importance of clinical context in interpreting uncertain results, and the principles behind family cascade screening. Particular attention is given to the management of relatives who carry a genetic variant but show no symptoms, and to the current limitations of genetic testing technologies (eg, performance). Ethical considerations, including the appropriate timing of testing in children minors, are also discussed. By connecting genetic insights with clinical cardiology, this review aims to support practical, informed decision making and promote effective collaboration with cardiogenetic specialists.

Humans↗
PubMed1975

An unusual case of urticaria -- cause and therapy.

A case is reported of a female patient who took 140 tablets of the antihistamine, mebhydrolin ('Fabahistin'), in one day for urticaria and experienced virtually no side effects. The urticaria cleared completely when her husband, who had a cardiac condition, died suddenly.

Adult↗
PubMed1975

The spectrum of degenerative changes in hypertrophied human cardiac muscle cells: an ultrastructural study.

Light and electron microscopic observations were made on cardiac tissues removed at operation from 91 patients with ventricular hypertrophy, including left ventricular myocardium from 16 patients with aortic valvular disease and from 16 patients with asymmetric septal hypertrophy, and crista supraventricularis muscle from 59 patients with congenital heart diseases associated with right ventricular outflow tract obstruction. In all patients the majority of cardiac muscle cells were hypertrophied, had intact myofibrils, and were surrounded by small amounts of fibrous tissue. In 18 (20%) of the 91 patients cardiac muscle cells with a wide spectrum of degenerative changes were present in addition to hyperthrophied, nondegenerated cells. Early degenerative changes consisted of focal myofibrillar lysis, with preferential loss of thick myofilaments, and focal proliferation of tubules of sarcoplasmic reticulum. Cardiac muscle cells with advanced degeneration had extensive myofibrillar damage and a marked decrease in numbers of myofibrils and T-tubules. The most severely degenerated cells showed selective proliferation of organelles, including sarcoplasmic reticulum, mitochondria, and glycogen, which replaced the contractile elements in the cytoplasm. These findings suggest that degenerated cardiac muscle cells have poor contractile function and may be responsible for impaired cardiac performance in some patients with ventricular hypertrophy. These morphological features appear to represent a final common pathway for degeneration of cardiac muscle cells in a variety of cardiac conditions.

Aortic Valve Insufficiency↗
PubMed1976

Cardiac actomyosin ATPase activity after prolonged physical conditioning and deconditioning.

Cardiac actomyosin ATPase was increased by making rats swim 150 min/day, 5 days/wk for 8 wk. Changes in Ca2+ -stimulated ATPase activity were then studied in these conditioned rats and in similarly conditioned animals in which swimming was subsequently discontinued (group A), reduced to 45 min/day (group B), or continued at the original level for an additional 8 wk (group C). After the 8-wk initial program actomyosin ATPase activity averaged 22% higher in hearts of conditioned rats than in hearts of sedentary controls (P is less than 0.001). In group A, actomyosin ATPase activity declined rapidly and reached the level found in sedentary controls by the 13th day. In group B, actomyosin ATPase activity declined to the control level by the 30th day. At the end of 16 wk the percent increase in actomyosin ATPase activity in group C over that in hearts of sedentary animals was approximately the same as after 8 wk. These results demonstrate that elevation in cardiac actomyosin ATPase caused by moderate physical training in rats is not maintained if the training program is decreased or discontinued. The training program must be continued at or near the initial level if the increases in cardiac actomyosin ATPase are to be sustained.

Actomyosin↗