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2.
BMC Cardiovasc Disord ; 24(1): 242, 2024 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-38724937

RESUMO

BACKGROUND: Cardiac autonomic neuropathy (CAN) is a complication of diabetes mellitus (DM) that increases the risk of morbidity and mortality by disrupting cardiac innervation. Recent evidence suggests that CAN may manifest even before the onset of DM, with prediabetes and metabolic syndrome potentially serving as precursors. This study aims to identify genetic markers associated with CAN development in the Kazakh population by investigating the SNPs of specific genes. MATERIALS AND METHODS: A case-control study involved 82 patients with CAN (cases) and 100 patients without CAN (controls). A total of 182 individuals of Kazakh nationality were enrolled from a hospital affiliated with the RSE "Medical Center Hospital of the President's Affairs Administration of the Republic of Kazakhstan". 7 SNPs of genes FTO, PPARG, SNCA, XRCC1, FLACC1/CASP8 were studied. Statistical analysis was performed using Chi-square methods, calculation of odds ratios (OR) with 95% confidence intervals (CI), and logistic regression in SPSS 26.0. RESULTS: Among the SNCA gene polymorphisms, rs2737029 was significantly associated with CAN, almost doubling the risk of CAN (OR 2.03(1.09-3.77), p = 0.03). However, no statistically significant association with CAN was detected with the rs2736990 of the SNCA gene (OR 1.00 CI (0.63-1.59), p = 0.99). rs12149832 of the FTO gene increased the risk of CAN threefold (OR 3.22(1.04-9.95), p = 0.04), while rs1801282 of the PPARG gene and rs13016963 of the FLACC1 gene increased the risk twofold (OR 2.56(1.19-5.49), p = 0.02) and (OR 2.34(1.00-5.46), p = 0.05) respectively. rs1108775 and rs1799782 of the XRCC1 gene were associated with reduced chances of developing CAN both before and after adjustment (OR 0.24, CI (0.09-0.68), p = 0.007, and OR 0.43, CI (0.22-0.84), p = 0.02, respectively). CONCLUSION: The study suggests that rs2737029 (SNCA gene), rs12149832 (FTO gene), rs1801282 (PPARG gene), and rs13016963 (FLACC1 gene) may be predisposing factors for CAN development. Additionally, SNPs rs1108775 and rs1799782 (XRCC1 gene) may confer resistance to CAN. Only one polymorphism rs2736990 of the SNCA gene was not associated with CAN.


Assuntos
Predisposição Genética para Doença , PPAR gama , Polimorfismo de Nucleotídeo Único , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Estudos de Casos e Controles , Cazaquistão/epidemiologia , Fatores de Risco , PPAR gama/genética , Idoso , Fenótipo , Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Medição de Risco , Estudos de Associação Genética , Proteína 1 Complementadora Cruzada de Reparo de Raio-X/genética , Cardiopatias/genética , Cardiopatias/etnologia , Cardiopatias/diagnóstico , Doenças do Sistema Nervoso Autônomo/genética , Doenças do Sistema Nervoso Autônomo/diagnóstico , Adulto , Neuropatias Diabéticas/genética , Neuropatias Diabéticas/diagnóstico , Neuropatias Diabéticas/etnologia , Neuropatias Diabéticas/epidemiologia , Sistema Nervoso Autônomo/fisiopatologia , Marcadores Genéticos , alfa-Sinucleína
3.
J Emerg Med ; 66(5): e614-e618, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38702244

RESUMO

BACKGROUND: Left-sided intracardiac thrombi are most commonly seen in conditions with decreased cardiac flow, such as myocardial infarction or atrial fibrillation. They can be propagated into the systemic circulation, leading to a cerebrovascular accident. Identification of thrombus-in-transit via point-of-care ultrasound (POCUS) has the potential to change patient management given its association with high patient morbidity and mortality. CASE REPORT: An intubated 60-year-old man was transferred to our emergency department for management of altered mental status and seizure-like activity. The patient was markedly hypotensive on arrival, and cardiac POCUS was performed to identify potential causes of hypotension. A left ventricular thrombus-in-transit was identified. The thrombus was notably absent on a repeat POCUS examination < 10 min later, which led to concern for thrombus propagation. Furthermore, the patient's vasopressor requirements had significantly increased in that time period. Subsequent emergent neuroimaging revealed a large ischemic stroke in the left internal carotid and middle cerebral artery distribution. The patient was, unfortunately, deemed to not be a candidate for either thrombectomy or thrombolysis and ultimately expired in the hospital. Why Should an Emergency Physician Be Aware of This? Serial POCUS examinations identified the propagation of this patient's thrombus-in-transit, leading the physician to change the initial presumptive diagnosis and treatment course, and pursue further imaging and workup for ischemic stroke. Identification of a thrombus-in-transit is a clue to potentially underlying critical pathology and should be followed with serial POCUS examinations to assess for treatment efficacy and thrombus propagation.


Assuntos
Sistemas Automatizados de Assistência Junto ao Leito , Trombose , Ultrassonografia , Humanos , Masculino , Pessoa de Meia-Idade , Trombose/diagnóstico por imagem , Ultrassonografia/métodos , Serviço Hospitalar de Emergência/organização & administração , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/fisiopatologia , Hipotensão/etiologia , Cardiopatias/diagnóstico , Cardiopatias/complicações , Evolução Fatal
4.
Cardiovasc Toxicol ; 24(6): 563-575, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38700665

RESUMO

Anthracycline antibiotic is one of the most effective anti-tumor drugs used to manage certain types of breast cancers, lymphomas, and leukemias. However, anthracyclines induce a dose-dependent cardiotoxicity that may progress to heart failure. Thus, using a sensitive predictor of early cardiac dysfunction in patients treated with anthracyclines can help detect subclinical cardiac dysfunction early and help initiate interventions to protect these patients. Among parameters of myocardial measure, cardiac magnetic resonance (CMR)-measured native myocardial T1 mapping is considered a sensitive and accurate quantitative measure of early subclinical cardiac changes, particularly cardiac inflammation and fibrosis. However, to understand the quality and the validity of the current evidence supporting the use of these measures in patients treated with anthracyclines, we aimed to conduct a systematic review of clinical studies of this measure to detect early myocardial changes in cancer patients treated with anthracyclines. The primary outcome was the level of native T1 mapping. We performed fixed-effects meta-analyses and assessed certainty in effect estimates. Of the 1780 publications reviewed (till 2022), 23 were retrieved, and 9 articles met the inclusion criteria. Our study showed that exposure to anthracycline was associated with a significant elevation of native myocardial T1 mapping from baseline (95% CI 0.1121 to 0.5802; p = 0.0037) as well as compared to healthy control patients (95% CI 0.2925 to 0.7448; p < 0.0001). No significant publication bias was noted on the assessment of the funnel plot and Egger's test. According to the Q test, there was no significant heterogeneity in the included studies (I2 = 0.0000% versus healthy controls and I2 = 14.0666% versus baseline). Overall, our study suggests that native myocardial T1 mapping is useful for detecting anthracycline-induced cardiotoxicity in patients with cancer.


Assuntos
Antraciclinas , Antibióticos Antineoplásicos , Cardiotoxicidade , Cardiopatias , Neoplasias , Valor Preditivo dos Testes , Humanos , Antraciclinas/efeitos adversos , Neoplasias/tratamento farmacológico , Antibióticos Antineoplásicos/efeitos adversos , Feminino , Cardiopatias/induzido quimicamente , Cardiopatias/diagnóstico por imagem , Cardiopatias/fisiopatologia , Cardiopatias/diagnóstico , Masculino , Pessoa de Meia-Idade , Diagnóstico Precoce , Fatores de Risco , Adulto , Idoso , Medição de Risco , Imageamento por Ressonância Magnética , Função Ventricular Esquerda/efeitos dos fármacos , Adulto Jovem
5.
BMC Cardiovasc Disord ; 24(1): 260, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38769516

RESUMO

INTRODUCTION: Use of doxorubicin, an anthracycline chemotherapeutic agent has been associated with late-occurring cardiac toxicities. Detection of early-occurring cardiac effects of cancer chemotherapy is essential to prevent occurrence of adverse events including toxicity, myocardial dysfunction, and death. OBJECTIVE: To investigate the prevalence of elevated cardiac troponin T (cTnT) and associated factors of myocardial injury in children on doxorubicin cancer chemotherapy. METHODS: Design: A cross-sectional study. SETTING AND SUBJECTS: A hospital-based study conducted on children aged 1-month to 12.4-years who had a diagnosis of cancer and were admitted at Kenyatta National Hospital (KNH). INTERVENTIONS AND OUTCOMES: The patients underwent Echocardiography (ECHO) before their scheduled chemotherapy infusion. Twenty-four (24) hours after the chemotherapy infusion the patients had an evaluation of the serum cardiac troponin T (cTnT) and a repeat ECHO. Myocardial injury was defined as cTnT level > 0.014 ng/ml or a Fractional Shortening (FS) of < 29% on ECHO. RESULTS: One hundred (100) children were included in the final analysis. Thirty-two percent (32%) of the study population had an elevated cTnT. A cumulative doxorubicin dose of > 175 mg/m2 was significantly associated with and elevated cTnT (OR, 10.76; 95% CI, 1.18-97.92; p = 0.035). Diagnosis of nephroblastoma was also associated with an elevated cTnT (OR, 3.0; 95% CI, 1.23-7.26) but not statistically significant (p = 0.105). Nine percent (9%) of the participants had echocardiographic evidence of myocardial injury. CONCLUSION: When compared to echocardiography, elevated levels of cTnT showed a higher association with early-occurring chemotherapy-induced myocardial injury among children on cancer treatment at a tertiary teaching and referral hospital in Kenya.


Assuntos
Antibióticos Antineoplásicos , Biomarcadores , Cardiotoxicidade , Doxorrubicina , Neoplasias , Centros de Atenção Terciária , Troponina T , Humanos , Estudos Transversais , Masculino , Feminino , Doxorrubicina/efeitos adversos , Criança , Quênia/epidemiologia , Troponina T/sangue , Pré-Escolar , Antibióticos Antineoplásicos/efeitos adversos , Lactente , Neoplasias/tratamento farmacológico , Neoplasias/sangue , Fatores de Risco , Biomarcadores/sangue , Prevalência , Fatores de Tempo , Regulação para Cima , Cardiopatias/induzido quimicamente , Cardiopatias/epidemiologia , Cardiopatias/diagnóstico por imagem , Cardiopatias/diagnóstico , Cardiopatias/sangue , Fatores Etários , Medição de Risco , Ecocardiografia
6.
Rev Clin Esp (Barc) ; 224(5): 288-299, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38614320

RESUMO

In recent years, the interest in cardiac amyloidosis has grown exponentially. However, there is a need to improve our understanding of amyloidosis in order to optimise early detection systems. Therefore, it is crucial to incorporate solutions to improve the suspicion, diagnosis and follow-up of cardiac amyloidosis. In this sense, we designed a tool following the different phases to reach the diagnosis of cardiac amyloidosis, as well as an optimal follow-up: a) clinical suspicion, where the importance of the "red flags" to suspect it and activate the diagnostic process is highlighted; 2) diagnosis, where the diagnostic algorithm is mainly outlined; and 3) follow-up of confirmed patients. This is a practical resource that will be of great use to all professionals caring for patients with suspected or confirmed cardiac amyloidosis, to improve its early detection, as well as to optimise its accurate diagnosis and optimal follow-up.


Assuntos
Amiloidose , Cardiomiopatias , Humanos , Amiloidose/diagnóstico , Amiloidose/terapia , Cardiomiopatias/diagnóstico , Cardiomiopatias/terapia , Algoritmos , Cardiopatias/diagnóstico , Cardiopatias/terapia
7.
Sci Rep ; 14(1): 7833, 2024 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-38570560

RESUMO

Heart disease is a major global cause of mortality and a major public health problem for a large number of individuals. A major issue raised by regular clinical data analysis is the recognition of cardiovascular illnesses, including heart attacks and coronary artery disease, even though early identification of heart disease can save many lives. Accurate forecasting and decision assistance may be achieved in an effective manner with machine learning (ML). Big Data, or the vast amounts of data generated by the health sector, may assist models used to make diagnostic choices by revealing hidden information or intricate patterns. This paper uses a hybrid deep learning algorithm to describe a large data analysis and visualization approach for heart disease detection. The proposed approach is intended for use with big data systems, such as Apache Hadoop. An extensive medical data collection is first subjected to an improved k-means clustering (IKC) method to remove outliers, and the remaining class distribution is then balanced using the synthetic minority over-sampling technique (SMOTE). The next step is to forecast the disease using a bio-inspired hybrid mutation-based swarm intelligence (HMSI) with an attention-based gated recurrent unit network (AttGRU) model after recursive feature elimination (RFE) has determined which features are most important. In our implementation, we compare four machine learning algorithms: SAE + ANN (sparse autoencoder + artificial neural network), LR (logistic regression), KNN (K-nearest neighbour), and naïve Bayes. The experiment results indicate that a 95.42% accuracy rate for the hybrid model's suggested heart disease prediction is attained, which effectively outperforms and overcomes the prescribed research gap in mentioned related work.


Assuntos
Doença da Artéria Coronariana , Aprendizado Profundo , Cardiopatias , Humanos , Teorema de Bayes , Cardiopatias/diagnóstico , Cardiopatias/genética , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/genética , Algoritmos , Inteligência
8.
Sci Rep ; 14(1): 9614, 2024 04 26.
Artigo em Inglês | MEDLINE | ID: mdl-38671304

RESUMO

The abnormal heart conduction, known as arrhythmia, can contribute to cardiac diseases that carry the risk of fatal consequences. Healthcare professionals typically use electrocardiogram (ECG) signals and certain preliminary tests to identify abnormal patterns in a patient's cardiac activity. To assess the overall cardiac health condition, cardiac specialists monitor these activities separately. This procedure may be arduous and time-intensive, potentially impacting the patient's well-being. This study automates and introduces a novel solution for predicting the cardiac health conditions, specifically identifying cardiac morbidity and arrhythmia in patients by using invasive and non-invasive measurements. The experimental analyses conducted in medical studies entail extremely sensitive data and any partial or biased diagnoses in this field are deemed unacceptable. Therefore, this research aims to introduce a new concept of determining the uncertainty level of machine learning algorithms using information entropy. To assess the effectiveness of machine learning algorithms information entropy can be considered as a unique performance evaluator of the machine learning algorithm which is not selected previously any studies within the realm of bio-computational research. This experiment was conducted on arrhythmia and heart disease datasets collected from Massachusetts Institute of Technology-Berth Israel Hospital-arrhythmia (DB-1) and Cleveland Heart Disease (DB-2), respectively. Our framework consists of four significant steps: 1) Data acquisition, 2) Feature preprocessing approach, 3) Implementation of learning algorithms, and 4) Information Entropy. The results demonstrate the average performance in terms of accuracy achieved by the classification algorithms: Neural Network (NN) achieved 99.74%, K-Nearest Neighbor (KNN) 98.98%, Support Vector Machine (SVM) 99.37%, Random Forest (RF) 99.76 % and Naïve Bayes (NB) 98.66% respectively. We believe that this study paves the way for further research, offering a framework for identifying cardiac health conditions through machine learning techniques.


Assuntos
Arritmias Cardíacas , Eletrocardiografia , Aprendizado de Máquina , Humanos , Eletrocardiografia/métodos , Arritmias Cardíacas/diagnóstico , Algoritmos , Monitorização Fisiológica/métodos , Cardiopatias/diagnóstico
9.
Int J Cardiol ; 406: 132070, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38643802

RESUMO

BACKGROUND: Cardiac involvement represents a major cause of morbidity and mortality in patients with myotonic dystrophy type 1 (DM1) and prevention of sudden cardiac death (SCD) is a central part of patient care. We investigated the natural history of cardiac involvement in patients with DM1 to provide an evidence-based foundation for adjustment of follow-up protocols. METHODS: Patients with genetically confirmed DM1 were identified. Data on patient characteristics, performed investigations (12 lead ECG, Holter monitoring and echocardiography), and clinical outcomes were retrospectively collected from electronic health records. RESULTS: We included 195 patients (52% men) with a mean age at baseline evaluation of 41 years (range 14-79). The overall prevalence of cardiac involvement increased from 42% to 66% after a median follow-up of 10.5 years. There was a male predominance for cardiac involvement at end of follow-up (74 vs. 44%, p < 0.001). The most common types of cardiac involvement were conduction abnormalities (48%), arrhythmias (35%), and left ventricular systolic dysfunction (21%). Only 17% of patients reported cardiac symptoms. The standard 12­lead ECG was the most sensitive diagnostic modality and documented cardiac involvement in 24% at baseline and in 49% at latest follow-up. However, addition of Holter monitoring and echocardiography significantly increased the diagnostic yield with 18 and 13% points at baseline and latest follow-up, respectively. Despite surveillance 35 patients (18%) died during follow-up; seven due to SCD. CONCLUSIONS: In patients with DM1 cardiac involvement was highly prevalent and developed during follow-up. These findings justify lifelong follow-up with ECG, Holter, and echocardiography. CLINICAL PERSPECTIVE: What is new? What are the clinical implications?


Assuntos
Distrofia Miotônica , Humanos , Distrofia Miotônica/complicações , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/fisiopatologia , Distrofia Miotônica/epidemiologia , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Seguimentos , Adulto Jovem , Estudos Retrospectivos , Adolescente , Idoso , Eletrocardiografia Ambulatorial/métodos , Ecocardiografia/métodos , Cardiopatias/etiologia , Cardiopatias/diagnóstico , Cardiopatias/epidemiologia , Eletrocardiografia
10.
Sci Rep ; 14(1): 7819, 2024 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-38570582

RESUMO

Heart disease is a leading cause of mortality on a global scale. Accurately predicting cardiovascular disease poses a significant challenge within clinical data analysis. The present study introduces a prediction model that utilizes various combinations of information and employs multiple established classification approaches. The proposed technique combines the genetic algorithm (GA) and the recursive feature elimination method (RFEM) to select relevant features, thus enhancing the model's robustness. Techniques like the under sampling clustering oversampling method (USCOM) address the issue of data imbalance, thereby improving the model's predictive capabilities. The classification challenge employs a multilayer deep convolutional neural network (MLDCNN), trained using the adaptive elephant herd optimization method (AEHOM). The proposed machine learning-based heart disease prediction method (ML-HDPM) demonstrates outstanding performance across various crucial evaluation parameters, as indicated by its comprehensive assessment. During the training process, the ML-HDPM model exhibits a high level of performance, achieving an accuracy rate of 95.5% and a precision rate of 94.8%. The system's sensitivity (recall) performs with a high accuracy rate of 96.2%, while the F-score highlights its well-balanced performance, measuring 91.5%. It is worth noting that the specificity of ML-HDPM is recorded at a remarkable 89.7%. The findings underscore the potential of ML-HDPM to transform the prediction of heart disease and aid healthcare practitioners in providing precise diagnoses, exerting a substantial influence on patient care outcomes.


Assuntos
Doenças Cardiovasculares , Cardiopatias , Mamífero Proboscídeo , Humanos , Animais , Cardiopatias/diagnóstico , Doenças Cardiovasculares/diagnóstico , Análise por Conglomerados , Análise de Dados , Aprendizado de Máquina
13.
Eur J Pediatr ; 183(5): 2411-2420, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38459131

RESUMO

Sudden cardiac death in children is a rare event, but of great social significance. Generally, it is related to heart disease with a risk of sudden cardiac death (SCD), which may occur with cardiovascular symptoms and/or electrocardiographic markers; thus, a primary care paediatrician (PCP) could detect them. Therefore, we proposed a study that assesses how to put into practice and conduct a cardiovascular assessment within the routine healthy-child check-ups at six and twelve years of age; that reflects cardiovascular signs and symptoms, as well as the electrocardiographic alterations that children with a risk of SCD in the selected population present; and that assesses the PCP's skill at electrocardiogram (ECG) interpretation. In collaboration with PCPs, primary care nurses, and paediatric cardiologists, an observational, descriptive, multicentre, cross-sectional study was carried out in the Balearic Islands (Spain), from April 2021 to January 2022, inclusive. The PCPs gathered patient data through forms (medical record, electrocardiogram, and physical examination) and sent them to the investigator, together with the informed consent document and electrocardiogram. The investigator passed the electrocardiogram on to the paediatric cardiologists for reading, in an identical form to those the paediatricians had filled in. The variables were collected, and a descriptive analysis performed. Three paediatric cardiologists, twelve PCPs, and nine nurses from seven public health centres took part. They collected the data from 641 patients, but 233 patients did not participate (in 81.11% due to the PCP's workload). Therefore, the study coverage was around 64%, representing the quotient of the total number of patients who participated, divided by the total number of patients who were eligible for the study. We detected 30 patients with electrocardiographic alterations compatible with SCD risk. Nine of these had been examined by a paediatric cardiologist at some time (functional murmur in 8/9), five had reported shortness of breath with exercise, and four had reported a family history of sudden death. The physical examination of all the patients whose ECG was compatible with a risk of SCD was normal. Upon analysing to what extent the ECG results of the PCP and the paediatric cardiologist agreed, the percentage of agreement in the final interpretation (normal/altered) was 91.9%, while Cohen's kappa coefficient was 31.2% (CI 95%: 13.8-48.6%). The sensitivity of the ECG interpretation by the PCP to detect an ECG compatible with a risk of SCD was 29% and the positive predictive value 45%.     Conclusions: This study lays the foundations for future SCD risk screening in children, performed by PCPs. However, previously, it would be important to optimise their training in reading and interpreting paediatric ECGs. What is Known: • In Spain at present, there is a programme in place to detect heart disease with a risk of sudden death [1], but it targets only children who are starting on or are doing a physical activity as a federated sport. Implementing such screening programmes has proven effective in several countries [2]. However, several studies showed that the incidence of sudden cardiac death is no higher in children competing in sport activities than in those who do not do any sport [3]. This poses an ethical conflict, because at present, children who do not do any federated sport are excluded from screening. According to the revised literature, so far, only in two studies did they screen the child population at schools, and in both, they successfully detected patients with heart disease associated to the risk of sudden death [4, 5]. We have found no studies where the screening of these features was included within the routine healthy-child check-ups by primary care paediatricians. What is New: • We did not know whether-in our setting, at present-the primary care paediatrician could perform a screening method within the routine healthy-child check-ups, in order to detect presumably healthy children at risk of sudden cardiac death, as they present one of the SCD risks. In this regard, we proposed our project: to assess how to put into practice and conduct a cardiovascular assessment via SCD risk screening in the healthy child population by primary care paediatricians and appraise primary care paediatricians' skills in identifying the electrocardiographic alterations associated with SCD risk. The ultimate intention of this pilot study was to make it possible, in the future, to design and justify a study aimed at universalising cardiovascular screening and achieving a long-term decrease in sudden cardiac death events in children.


Assuntos
Morte Súbita Cardíaca , Eletrocardiografia , Cardiopatias , Humanos , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/prevenção & controle , Criança , Masculino , Feminino , Eletrocardiografia/métodos , Estudos Transversais , Cardiopatias/diagnóstico , Cardiopatias/complicações , Espanha/epidemiologia , Programas de Rastreamento/métodos , Medição de Risco/métodos
14.
Circ Genom Precis Med ; 17(2): e004416, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38516780

RESUMO

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. METHODS: All couples with an inherited cardiac disease referred to the national PGT center were included. A multidisciplinary team approved or rejected the indication based on clinical and genetic information. We developed a decision model based on published risk prediction models and literature, to evaluate the severity of the cardiac phenotype and the penetrance of the familial variant in referred patients. The outcomes of the model and the multidisciplinary team were compared in a blinded fashion. RESULTS: Eighty-three couples were referred for PGT (1997-2022), comprising 19 different genes for 8 different inherited cardiac diseases (cardiomyopathies and arrhythmias). Using our model and proposed cutoff values, a definitive decision was reached for 76 (92%) couples, aligning with 95% of the multidisciplinary team decisions. In a prospective cohort of 11 couples, we showed the clinical applicability of the model to select couples most eligible for PGT. CONCLUSIONS: The number of PGT requests for inherited cardiac diseases increases rapidly, without the availability of specific guidelines. We propose a 2-step decision model that helps select couples with the highest risk reduction for cardiac disease in their offspring after PGT.


Assuntos
Tomada de Decisão Clínica , Doenças Genéticas Inatas , Testes Genéticos , Cardiopatias , Diagnóstico Pré-Implantação , Encaminhamento e Consulta , Feminino , Humanos , Testes Genéticos/métodos , Cardiopatias/congênito , Cardiopatias/diagnóstico , Cardiopatias/genética , Cardiopatias/prevenção & controle , Diagnóstico Pré-Implantação/métodos , Masculino , Tomada de Decisão Clínica/métodos , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/genética , Cardiomiopatias/diagnóstico , Cardiomiopatias/genética , Gestão de Riscos , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Doenças Genéticas Inatas/prevenção & controle , Heterozigoto , Estudos Prospectivos , Características da Família
15.
Am J Obstet Gynecol MFM ; 6(5): 101359, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38552959

RESUMO

BACKGROUND: Symptoms of underlying cardiac disease in pregnancy can often be mistaken for common complaints because of normal physiological changes in pregnancy. Echocardiographic evaluation of patients with symptoms of palpitations and dyspnea can detect structural changes and identify high-risk features. OBJECTIVE: This study aimed to examine transthoracic echocardiograms of perinatal individuals completed for palpitations or dyspnea to determine the frequency of identifying structural changes. STUDY DESIGN: This was a retrospective cohort study of all perinatal individuals with a transthoracic echocardiogram at a single academic center between October 1, 2017, and May 1, 2022. The indication for the echocardiogram, demographics, and clinical characteristics were recorded. Transthoracic echocardiograms with any abnormal findings noted in the transthoracic echocardiogram report were reviewed and categorized into findings of congenital heart disease, valvular disease, pericardial effusion, evidence of ischemia or wall motion abnormalities, abnormal diastolic or systolic function, and other. RESULTS: Of 539 transthoracic echocardiograms completed on 478 individuals who were pregnant or in the 12-week postpartum period, 96 (17.8%) had an indication of palpitations, and 32 (5.9%) had an indication of dyspnea. Abnormal findings were seen in 21.9% of patients with palpitations and in 34.4% of patients with dyspnea. In patients with palpitations who had abnormal findings, 33.3% had congenital heart disease; 33.3% had mild valvular disease, including mitral valve prolapse; 19.0% had a pericardial effusion; and 14.3% had evidence of ischemia or wall motion defects. Abnormal transthoracic echocardiogram findings in the dyspnea cohort included ischemia or wall motion defects (27.3%), mild valvular disease or mitral valve prolapse (36.4%), and abnormal systolic or diastolic function (36.4%). CONCLUSION: Many of the transthoracic echocardiograms completed for patients with dyspnea or palpitations identified no structural abnormality; however, in 1 of 3 to 1 of 4 patients, underlying structural heart disease was identified. Although some of these abnormalities were unlikely to change delivery plans, such as mild valvular disease or small effusions, other abnormalities, such as ischemia, congenital abnormalities, and abnormal systolic or diastolic function, were likely to have implications for pregnancy and postpartum management.


Assuntos
Dispneia , Ecocardiografia , Complicações Cardiovasculares na Gravidez , Humanos , Feminino , Gravidez , Dispneia/diagnóstico , Dispneia/fisiopatologia , Dispneia/etiologia , Dispneia/epidemiologia , Estudos Retrospectivos , Adulto , Ecocardiografia/métodos , Ecocardiografia/estatística & dados numéricos , Complicações Cardiovasculares na Gravidez/fisiopatologia , Complicações Cardiovasculares na Gravidez/diagnóstico , Complicações Cardiovasculares na Gravidez/epidemiologia , Derrame Pericárdico/diagnóstico , Derrame Pericárdico/fisiopatologia , Derrame Pericárdico/epidemiologia , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/fisiopatologia , Arritmias Cardíacas/epidemiologia , Cardiopatias Congênitas/fisiopatologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/epidemiologia , Doenças das Valvas Cardíacas/diagnóstico , Doenças das Valvas Cardíacas/fisiopatologia , Doenças das Valvas Cardíacas/epidemiologia , Doenças das Valvas Cardíacas/complicações , Cardiopatias/diagnóstico , Cardiopatias/fisiopatologia , Cardiopatias/epidemiologia
16.
Am J Obstet Gynecol MFM ; 6(4): 101323, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38438010

RESUMO

BACKGROUND: Congenital and acquired heart disease complicate 1% to 4% of pregnancies in the United States. Beyond the risks of the underlying maternal congenital heart disease, cardiac surgery and its sequelae, such as surgical scarring resulting in higher rates of arrhythmias and implanted valves altering anticoagulation status, have potential implications that could affect gestation and delivery. OBJECTIVE: This study aimed to investigate whether history of maternal cardiac surgery is associated with adverse obstetrical or neonatal outcomes compared with patients without a history of cardiac disease or surgery, considered "healthy controls." STUDY DESIGN: This is a secondary analysis of retrospective cohort studies performed at a tertiary care facility in the United States comparing obstetrical outcomes in patients with a history of open cardiac surgery who delivered from January 2007 to December 2018 with healthy controls, who delivered from April 2020 to July 2020. There were 74 pregnancies in 61 patients with a history of open cardiac surgery that were compared with pregnancies in healthy controls. Of the 74 pregnancies, 65 were successfully matched based on gestational age to controls at a 1:3 (case-to-control) ratio. The remainder of cases were matched at a 1:2 or 1:1 ratio; therefore, a total of 219 control pregnancies were included in the analysis. Our primary outcome was the incidence of hypertensive disorders of pregnancy, as well as cesarean delivery, in patients with a history of open cardiac surgery compared with healthy controls. Our secondary outcome was the incidence of low-birthweight neonates in patients with a history of open cardiac surgery compared with healthy controls. RESULTS: Patients with a history of cardiac surgery were not more likely to have any hypertensive disorder diagnosed than healthy controls. Patients with a history of cardiac surgery were more likely to have an operative delivery (P<.0001) but equally likely to have a cesarean delivery (P=.528) compared with healthy controls. Birthweight was not statistically different of 2655±808 g in neonates born to patients with a history of cardiac surgery vs 2844±830 g born to healthy controls (P=.092). CONCLUSION: Patients with a history of cardiac surgery may not be at higher risk of hypertensive disorder diagnosis during pregnancy. Similarly, most patients with a history of cardiac surgery are also likely not at higher risk of cesarean delivery or low-birthweight neonates.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Cesárea , Complicações Cardiovasculares na Gravidez , Resultado da Gravidez , Humanos , Feminino , Gravidez , Estudos Retrospectivos , Adulto , Recém-Nascido , Cesárea/estatística & dados numéricos , Cesárea/métodos , Resultado da Gravidez/epidemiologia , Complicações Cardiovasculares na Gravidez/epidemiologia , Complicações Cardiovasculares na Gravidez/fisiopatologia , Procedimentos Cirúrgicos Cardíacos/métodos , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/estatística & dados numéricos , Estudos de Casos e Controles , Hipertensão Induzida pela Gravidez/epidemiologia , Hipertensão Induzida pela Gravidez/diagnóstico , Cardiopatias/epidemiologia , Cardiopatias/diagnóstico , Estados Unidos/epidemiologia , Cardiopatias Congênitas/cirurgia , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/complicações
17.
Curr Heart Fail Rep ; 21(3): 262-275, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38485860

RESUMO

PURPOSE OF REVIEW: Cardiac fibrosis is a crucial juncture following cardiac injury and a precursor for many clinical heart disease manifestations. Epigenetic modulators, particularly non-coding RNAs (ncRNAs), are gaining prominence as diagnostic and therapeutic tools. RECENT FINDINGS: miRNAs are short linear RNA molecules involved in post-transcriptional regulation; lncRNAs and circRNAs are RNA sequences greater than 200 nucleotides that also play roles in regulating gene expression through a variety of mechanisms including miRNA sponging, direct interaction with mRNA, providing protein scaffolding, and encoding their own products. NcRNAs have the capacity to regulate one another and form sophisticated regulatory networks. The individual roles and disease relevance of miRNAs, lncRNAs, and circRNAs to cardiac fibrosis have been increasingly well described, though the complexity of their interrelationships, regulatory dynamics, and context-specific roles needs further elucidation. This review provides an overview of select ncRNAs relevant in cardiac fibrosis as a surrogate for many cardiac disease states with a focus on crosstalk and regulatory networks, variable actions among different disease states, and the clinical implications thereof. Further, the clinical feasibility of diagnostic and therapeutic applications as well as the strategies underway to advance ncRNA theranostics is explored.


Assuntos
Fibrose , RNA não Traduzido , Humanos , Fibrose/genética , RNA não Traduzido/genética , Miocárdio/patologia , Miocárdio/metabolismo , RNA Longo não Codificante/genética , MicroRNAs/genética , Cardiopatias/diagnóstico , Cardiopatias/genética , Biomarcadores/metabolismo , Regulação da Expressão Gênica
18.
Respir Res ; 25(1): 127, 2024 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-38493081

RESUMO

BACKGROUND: Breathlessness is common in the population and can be related to a range of medical conditions. We aimed to evaluate the burden of breathlessness related to different medical conditions in a middle-aged population. METHODS: Cross-sectional analysis of the population-based Swedish CArdioPulmonary bioImage Study of adults aged 50-64 years. Breathlessness (modified Medical Research Council [mMRC] ≥ 2) was evaluated in relation to self-reported symptoms, stress, depression; physician-diagnosed conditions; measured body mass index (BMI), spirometry, venous haemoglobin concentration, coronary artery calcification and stenosis [computer tomography (CT) angiography], and pulmonary emphysema (high-resolution CT). For each condition, the prevalence and breathlessness population attributable fraction (PAF) were calculated, overall and by sex, smoking history, and presence/absence of self-reported cardiorespiratory disease. RESULTS: We included 25,948 people aged 57.5 ± [SD] 4.4; 51% women; 37% former and 12% current smokers; 43% overweight (BMI 25.0-29.9), 21% obese (BMI ≥ 30); 25% with respiratory disease, 14% depression, 9% cardiac disease, and 3% anemia. Breathlessness was present in 3.7%. Medical conditions most strongly related to the breathlessness prevalence were (PAF 95%CI): overweight and obesity (59.6-66.0%), stress (31.6-76.8%), respiratory disease (20.1-37.1%), depression (17.1-26.6%), cardiac disease (6.3-12.7%), anemia (0.8-3.3%), and peripheral arterial disease (0.3-0.8%). Stress was the main factor in women and current smokers. CONCLUSION: Breathlessness mainly relates to overweight/obesity and stress and to a lesser extent to comorbidities like respiratory, depressive, and cardiac disorders among middle-aged people in a high-income setting-supporting the importance of lifestyle interventions to reduce the burden of breathlessness in the population.


Assuntos
Anemia , Cardiopatias , Masculino , Adulto , Pessoa de Meia-Idade , Humanos , Feminino , Sobrepeso , Estudos Transversais , Dispneia/diagnóstico , Dispneia/epidemiologia , Cardiopatias/diagnóstico , Cardiopatias/epidemiologia , Obesidade
19.
Acta Cardiol ; 79(3): 358-366, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38348835

RESUMO

BACKGROUND: It is thought that ChatGPT, an advanced language model developed by OpenAI, may in the future serve as an AI-assisted decision support tool in medicine. OBJECTIVE: To evaluate the accuracy of ChatGPT's recommendations on medical questions related to common cardiac symptoms or conditions. METHODS: We tested ChatGPT's ability to address medical questions in two ways. First, we assessed its accuracy in correctly answering cardiovascular trivia questions (n = 50), based on quizzes for medical professionals. Second, we entered 20 clinical case vignettes on the ChatGPT platform and evaluated its accuracy compared to expert opinion and clinical course. Lastly, we compared the latest research version (v3.5; 27 September 2023) with a prior version (v3.5; 30 January 2023) to evaluate improvement over time. RESULTS: We found that ChatGPT latest version correctly answered 92% of the trivia questions, with slight variation in accuracy in the domains coronary artery disease (100%), pulmonary and venous thrombotic embolism (100%), atrial fibrillation (90%), heart failure (90%) and cardiovascular risk management (80%). In the 20 case vignettes, ChatGPT's response matched in 17 (85%) of the cases with the actual advice given. Straightforward patient-to-physician questions were all answered correctly (10/10). In more complex cases, where physicians (general practitioners) asked other physicians (cardiologists) for assistance or decision support, ChatGPT was correct in 70% of cases, and otherwise provided incomplete, inconclusive, or inappropriate recommendations when compared with expert consultation. ChatGPT showed significant improvement over time; as the January version correctly answered 74% (vs 92%) of trivia questions (p = 0.031), and correctly answered a mere 50% of complex cases. CONCLUSIONS: Our study suggests that ChatGPT has potential as an AI-assisted decision support tool in medicine, particularly for straightforward, low-complex medical questions, but further research is needed to fully evaluate its potential.


Assuntos
Estudo de Prova de Conceito , Humanos , Sistemas de Apoio a Decisões Clínicas , Técnicas de Apoio para a Decisão , Inteligência Artificial , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/terapia , Cardiopatias/diagnóstico , Cardiopatias/terapia
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