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1.
Sci Rep ; 14(1): 10672, 2024 05 09.
Article in English | MEDLINE | ID: mdl-38724564

ABSTRACT

To provide accurate predictions, current machine learning-based solutions require large, manually labeled training datasets. We implement persistent homology (PH), a topological tool for studying the pattern of data, to analyze echocardiography-based strain data and differentiate between rare diseases like constrictive pericarditis (CP) and restrictive cardiomyopathy (RCM). Patient population (retrospectively registered) included those presenting with heart failure due to CP (n = 51), RCM (n = 47), and patients without heart failure symptoms (n = 53). Longitudinal, radial, and circumferential strains/strain rates for left ventricular segments were processed into topological feature vectors using Machine learning PH workflow. In differentiating CP and RCM, the PH workflow model had a ROC AUC of 0.94 (Sensitivity = 92%, Specificity = 81%), compared with the GLS model AUC of 0.69 (Sensitivity = 65%, Specificity = 66%). In differentiating between all three conditions, the PH workflow model had an AUC of 0.83 (Sensitivity = 68%, Specificity = 84%), compared with the GLS model AUC of 0.68 (Sensitivity = 52% and Specificity = 76%). By employing persistent homology to differentiate the "pattern" of cardiac deformations, our machine-learning approach provides reasonable accuracy when evaluating small datasets and aids in understanding and visualizing patterns of cardiac imaging data in clinically challenging disease states.


Subject(s)
Echocardiography , Machine Learning , Humans , Male , Echocardiography/methods , Female , Middle Aged , Rare Diseases/diagnostic imaging , Pericarditis, Constrictive/diagnostic imaging , Pericarditis, Constrictive/diagnosis , Cardiomyopathy, Restrictive/diagnostic imaging , Retrospective Studies , Aged , Heart Ventricles/diagnostic imaging , Heart Ventricles/physiopathology , Heart Failure/diagnostic imaging , Adult
2.
Open Heart ; 11(1)2024 May 03.
Article in English | MEDLINE | ID: mdl-38702088

ABSTRACT

BACKGROUND: Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease. Cardiac involvement in SLE is rare but plays an important prognostic role. The degree of cardiac involvement according to SLE subsets defined by non-cardiac manifestations is unknown. The objective of this study was to identify differences in transthoracic echocardiography (TTE) parameters associated with different SLE subgroups. METHODS: One hundred eighty-one patients who fulfilled the 2019 American College of Rheumatology/EULAR classification criteria for SLE and underwent baseline TTE were included in this cross-sectional study. We defined four subsets of SLE based on the predominant clinical manifestations. A multivariate multinomial regression analysis was performed to determine whether TTE parameters differed between groups. RESULTS: Four clinical subsets were defined according to non-cardiac clinical manifestations: group A (n=37 patients) showed features of mixed connective tissue disease, group B (n=76 patients) had primarily cutaneous involvement, group C (n=18) exhibited prominent serositis and group D (n=50) had severe, multi-organ involvement, including notable renal disease. Forty TTE parameters were assessed between groups. Per multivariate multinomial regression analysis, there were statistically significant differences in early diastolic tricuspid annular velocity (RV-Ea, p<0.0001), RV S' wave (p=0.0031) and RV end-diastolic diameter (p=0.0419) between the groups. Group B (primarily cutaneous involvement) had the lowest degree of RV dysfunction. CONCLUSION: When defining clinical phenotypes of SLE based on organ involvement, we found four distinct subgroups which showed notable differences in RV function on TTE. Risk-stratifying patients by clinical phenotype could help better tailor cardiac follow-up in this population.


Subject(s)
Echocardiography , Heart Ventricles , Lupus Erythematosus, Systemic , Ventricular Function, Right , Humans , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Lupus Erythematosus, Systemic/physiopathology , Female , Male , Cross-Sectional Studies , Adult , Middle Aged , Ventricular Function, Right/physiology , Echocardiography/methods , Heart Ventricles/diagnostic imaging , Heart Ventricles/physiopathology , Ventricular Dysfunction, Right/physiopathology , Ventricular Dysfunction, Right/etiology , Ventricular Dysfunction, Right/diagnostic imaging , Retrospective Studies , Prognosis
3.
Kardiologiia ; 64(4): 45-53, 2024 Apr 30.
Article in Russian, English | MEDLINE | ID: mdl-38742515

ABSTRACT

AIM: To compare the changes in serum concentrations of matrix metalloproteinases (MMPs) and their tissue inhibitor (TIMP) to the dynamics of blood pressure (BP) and parameters of left ventricular hypertrophy (LVH) 6 months after renal denervation (RD) in patients with resistant arterial hypertension (RAH) and complicated coronary atherosclerosis. MATERIAL AND METHODS: In 22 RAH patients with complicated coronary atherosclerosis (revascularization and/or history of myocardial infarction (MI)), 24-hour BP monitoring, echocardiography, and measurement of blood MMPs and TIMP were performed at baseline and six months after RD. The comparison group consisted of 48 RAH patients without a history of coronary revascularization or MI. RESULTS: In 6 months after RD, BP was decreased comparably in both groups. In the group of complicated atherosclerosis, there were no significant changes in profibrotic markers or LVH parameters. Thus, at baseline and after 6 months, the values of the studied indicators were the following: left ventricular myocardial mass (LVMM) 233.1±48.1 and 243.0±52.0 g, LVMM index 60.6±14.5 and 62.8±10 .9 g/m2.7, proMMP-1 4.9 [2.1; 7.7] and 3.6 [2.0; 9.4]  ng/ml, MMP-2 290.4 [233.1; 352.5] and 352.2 [277.4; 402.9] ng/ml, MMP-9 220.6 [126.9; 476.7] and 263.5 [82.9; 726.2] ng/ml, TIMP-1 395.7 [124.7; 591.4] and 424.2 [118.2; 572.0] ng/ml, respectively. In the comparison group, on the contrary, there was a significant decrease in LVMM from 273.6±83.3 g to 254.1±70.4 g, LVMM index from 67.1±12.3 to 64.0±14.4 g/m2.7, proMMP-1 from 7.2 [3.6; 11.7] to 5.9 [3.5; 10.9] ng/ml, MMP-2 from 328.9 [257.1; 378.1] to 272.8 [230.2; 343.2] ng/ml, MMP-9 from 277.9 [137.0; 524.0] to 85.5 [34.2; 225.9] ng/ml, and the MMP-9/TIMP-1 ratio from 0.80 [0.31; 1.30] to 0.24 [0.07; 0.76]. The BP dynamics in this group was inversely correlated with MMP-2 at 6 months (r=-0.38), and the MMP-9/TIMP-1 ratio was correlated with LVMM and the LVMM index at baseline (r=0.39 and r=0.39) and at 6 months (r=0.37 and r=0.32). The change in TIMP-1 from 543.9 [277.5; 674.1] to 469.8 [289.7; 643.6] ng/ml was not significant (p=0.060). CONCLUSION: In RAH patients with complicated coronary atherosclerosis, the dynamics of profibrotic biomarkers and LVH parameters after RD was absent despite the pronounced antihypertensive effect, probably due to the low reversibility of cardiovascular remodeling processes or more complex regulatory mechanisms of the MMP system.


Subject(s)
Biomarkers , Hypertension , Hypertrophy, Left Ventricular , Humans , Male , Female , Hypertrophy, Left Ventricular/physiopathology , Hypertrophy, Left Ventricular/etiology , Middle Aged , Hypertension/physiopathology , Hypertension/surgery , Hypertension/complications , Biomarkers/blood , Coronary Artery Disease/surgery , Coronary Artery Disease/complications , Echocardiography/methods , Aged , Kidney/innervation , Blood Pressure/physiology , Matrix Metalloproteinases/blood , Sympathectomy/methods
4.
Kardiologiia ; 64(4): 54-60, 2024 Apr 30.
Article in Russian, English | MEDLINE | ID: mdl-38742516

ABSTRACT

AIM: To estimate the prevalence of amyloid cardiomyopathy (CM) caused by transthyretin amyloidosis (ATTR) and immunoglobulin light chain (AL) amyloidosis among patients aged >65 years with interventricular septal (IVS) hypertrophy of ≥14 mm. MATERIAL AND METHODS: From January through August 2023, 60 patients (mean age 7.2±7.3 years, 34 (56.67%) men) were enrolled. Patients meeting the inclusion criteria underwent an echocardiographic study with determining the myocardial longitudinal strain, myocardial scintigraphy with 99mTc-pyrfotech, myocardial single-photon emission computed tomography, measurement of N-terminal fragment of brain natriuretic peptide and troponin I, and the immunochemical study of serum and urine proteins with measurement of free light chains. In the presence of grades 2 and 3 radiopharmaceutical uptake according to scintigraphy, a molecular genetic study was performed for differential diagnosis of wild-type transthyretin amyloidosis (wtATTR) and hereditary/variant (hATTR) ATTR-CM. RESULTS: According to data of myocardial scintigraphy with 99mTc-pyrfotech, grade 3 uptake in the absence of monoclonal secretion was detected in 5 (8.3%) cases and grade 2 radiotracer uptake in the absence of monoclonal secretion was detected in 6 (10%) patients. Myeloma complicated by AL amyloidosis and primary AL amyloidosis were found in 5 (8.3%) patients. CONCLUSION: Among patients aged ≥65 years with IVS hypertrophy ≥14 mm, amyloid CM was detected in 20% of cases (12 patients), including 5 cases (8.3%) of AL amyloidosis and 7 cases (11.7%) of ATTR amyloidosis.


Subject(s)
Amyloid Neuropathies, Familial , Echocardiography , Hypertrophy, Left Ventricular , Humans , Male , Female , Russia/epidemiology , Aged , Amyloid Neuropathies, Familial/epidemiology , Amyloid Neuropathies, Familial/complications , Amyloid Neuropathies, Familial/diagnosis , Prevalence , Hypertrophy, Left Ventricular/epidemiology , Echocardiography/methods , Immunoglobulin Light-chain Amyloidosis/epidemiology , Immunoglobulin Light-chain Amyloidosis/complications , Tomography, Emission-Computed, Single-Photon/methods , Cardiomyopathies/epidemiology
5.
Cardiovasc Ultrasound ; 22(1): 5, 2024 May 14.
Article in English | MEDLINE | ID: mdl-38745211

ABSTRACT

BACKGROUND: Coronary microvascular dysfunction (CMD) refers to structural and functional abnormalities of the coronary microcirculation, which may be diagnosed using invasive coronary physiology. CMD is responsible for impaired diastolic cardiac function. It has recently been suggested that left atrial strain (LASr) represents a highly sensitive tool for detecting cardiac diastolic function abnormalities. Accordingly, the aim of this study was to investigate the relationship between CMD and LASr. METHODS: Consecutively enrolled patients with non-obstructed coronary arteries (NOCA) underwent CMD and LASr evaluation by invasive thermodilution and noninvasive echocardiography, respectively. RESULTS: Forty-two (42) patients were included, out of which 26 presented with CMD. There were no significant differences between CMD-positive and negative patients in terms of clinical and echocardiographic characteristics. LASr was significantly reduced in patients with CMD (24.6% ± 6.1 vs. 30.3 ± 7.8%, p = 0.01). A moderate correlation was observed between coronary flow reserve and LAsr (r = 0.47, p = 0.002). A multivariate logistic regression analysis demonstrated that CMD was independently associated with LASr (OR = 0.88, 95%CI 0.78-0.99.135, p = 0.04). A LASr cut-off of 25.5% enabled an optimal classification of patients with or without CMD. CONCLUSION: Patients with NOCA and CMD had a significantly reduced LASr compared with patients without CMD, suggesting the early impairment of diastolic function in these patients.


Subject(s)
Coronary Circulation , Coronary Vessels , Echocardiography , Heart Atria , Microcirculation , Humans , Male , Female , Microcirculation/physiology , Middle Aged , Coronary Circulation/physiology , Heart Atria/physiopathology , Heart Atria/diagnostic imaging , Echocardiography/methods , Coronary Vessels/physiopathology , Coronary Vessels/diagnostic imaging , Coronary Artery Disease/physiopathology , Coronary Artery Disease/diagnosis , Coronary Artery Disease/complications , Aged , Atrial Function, Left/physiology , Thermodilution/methods , Diastole
6.
Pediatr Rheumatol Online J ; 22(1): 50, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38693550

ABSTRACT

BACKGROUND: This study investigates the incidence of ocular involvement in Kawasaki disease (KD) and evaluates the relationship between ocular manifestations, laboratory findings, echocardiographic findings, and intravenous immunoglobulin (IVIG) resistance. METHODS: We conducted a cross-sectional study with 58 KD patients from June 2021 to March 2023. For all patients, a complete ophthalmologic examination and echocardiography were performed in the acute phase before starting the treatment. We analyzed the age, sex, mean of white blood cell (WBC) count, platelet count, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST), echocardiographic findings and IVIG responses for all patients and compared the group with ocular involvement with the group without involvement. RESULTS: The incidence of bilateral acute conjunctivitis was 70.7%, while that of acute uveitis was 30%. Patients with uveitis had significantly higher rates of Coronary artery dilatation and IVIG resistance, as well as higher mean levels of WBC, platelet, and CRP compared to those without uveitis. (P < 0.05). Additionally, the age of patients with uveitis involvement was lower than those without involvement. No significant relationships existed between ESR, AST, or ALT values and uveitis (P > 0.05). Furthermore, no significant correlations existed between any examined items and acute bilateral conjunctivitis. CONCLUSION: Uveitis in KD is significantly associated with coronary artery dilatation, IVIG resistance, higher WBC count, platelet count, and CRP level.


Subject(s)
Drug Resistance , Echocardiography , Immunoglobulins, Intravenous , Mucocutaneous Lymph Node Syndrome , Humans , Mucocutaneous Lymph Node Syndrome/epidemiology , Mucocutaneous Lymph Node Syndrome/drug therapy , Mucocutaneous Lymph Node Syndrome/blood , Mucocutaneous Lymph Node Syndrome/physiopathology , Immunoglobulins, Intravenous/therapeutic use , Male , Female , Cross-Sectional Studies , Echocardiography/methods , Child, Preschool , Infant , Child , Uveitis/etiology , Uveitis/epidemiology , Conjunctivitis/etiology , Conjunctivitis/epidemiology , Incidence , C-Reactive Protein/analysis , C-Reactive Protein/metabolism , Blood Sedimentation , Leukocyte Count , Immunologic Factors/therapeutic use , Platelet Count
7.
PLoS One ; 19(5): e0303496, 2024.
Article in English | MEDLINE | ID: mdl-38739622

ABSTRACT

INTRODUCTION: Rheumatic heart disease (RHD), degenerative aortic stenosis (AS), and congenital valve diseases are prevalent in sub-Saharan Africa. Many knowledge gaps remain in understanding disease mechanisms, stratifying phenotypes, and prognostication. Therefore, we aimed to characterise patients through clinical profiling, imaging, histology, and molecular biomarkers to improve our understanding of the pathophysiology, diagnosis, and prognosis of RHD and AS. METHODS: In this cross-sectional, case-controlled study, we plan to recruit RHD and AS patients and compare them to matched controls. Living participants will undergo clinical assessment, echocardiography, CMR and blood sampling for circulatory biomarker analyses. Tissue samples will be obtained from patients undergoing valve replacement, while healthy tissues will be obtained from cadavers. Immunohistology, proteomics, metabolomics, and transcriptome analyses will be used to analyse circulatory- and tissue-specific biomarkers. Univariate and multivariate statistical analyses will be used for hypothesis testing and identification of important biomarkers. In summary, this study aims to delineate the pathophysiology of RHD and degenerative AS using multiparametric CMR imaging. In addition to discover novel biomarkers and explore the pathomechanisms associated with RHD and AS through high-throughput profiling of the tissue and blood proteome and metabolome and provide a proof of concept of the suitability of using cadaveric tissues as controls for cardiovascular disease studies.


Subject(s)
Aortic Valve Stenosis , Biomarkers , Rheumatic Heart Disease , Humans , Rheumatic Heart Disease/diagnostic imaging , Rheumatic Heart Disease/physiopathology , Rheumatic Heart Disease/metabolism , Aortic Valve Stenosis/diagnostic imaging , Aortic Valve Stenosis/metabolism , Aortic Valve Stenosis/physiopathology , Biomarkers/metabolism , Case-Control Studies , Cross-Sectional Studies , Male , Female , Metabolomics/methods , Echocardiography/methods , Proteomics/methods , Magnetic Resonance Imaging/methods , Multiomics
8.
Sci Rep ; 14(1): 10849, 2024 05 13.
Article in English | MEDLINE | ID: mdl-38740940

ABSTRACT

Cardiac discomfort has been reported periodically in COVID-19-vaccinated individuals. Thus, this study aimed to evaluate the role of myocardial strains in the early assessment of the clinical presentations after COVID-19 vaccination. Totally, 121 subjects who received at least one dose of vaccine within 6 weeks underwent laboratory tests, electrocardiogram (ECG), and echocardiogram. Two-dimensional speckle tracking echocardiography (2D-STE) was implemented to analyze changes in the left ventricular myocardium. After vaccination, 66 individuals (55.4 ± 17.4 years) developed cardiac discomforts, such as chest tightness, palpitations, dyspnea, and chest pain. The ECG readings exhibited both premature ventricular contractions and premature atrial contractions (n = 24, 36.4%), while none of the individuals in the control group manifested signs of cardiac arrhythmia. All had normal serum levels of creatine phosphokinase, creatine kinase myocardial band, troponin, N-terminal pro b-type natriuretic peptide, platelets, and D-dimer. Left ventricular ejection fraction in the symptomatic group (71.41% ± 7.12%) and the control group (72.18% ± 5.11%) (p = 0.492) were normal. Use of 2D-STE presented global longitudinal strain (GLS) and global circumferential strain (GCS) was reduced in the symptomatic group (17.86% ± 3.22% and 18.37% ± 5.22%) compared to the control group (19.54% ± 2.18% and 20.73% ± 4.09%) (p = 0.001 and p = 0.028). COVID-19 vaccine-related cardiac adverse effects can be assessed early by 2D-STE. The prognostic implications of GLS and GCS enable the evaluation of subtle changes in myocardial function after vaccination.


Subject(s)
COVID-19 Vaccines , COVID-19 , Echocardiography , Vaccination , Humans , Middle Aged , Male , Female , Echocardiography/methods , COVID-19 Vaccines/adverse effects , COVID-19 Vaccines/administration & dosage , Aged , Adult , Vaccination/adverse effects , Electrocardiography , SARS-CoV-2
9.
Radiographics ; 44(6): e230126, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38722782

ABSTRACT

Cardiac tumors, although rare, carry high morbidity and mortality rates. They are commonly first identified either at echocardiography or incidentally at thoracoabdominal CT performed for noncardiac indications. Multimodality imaging often helps to determine the cause of these masses. Cardiac tumors comprise a distinct category in the World Health Organization (WHO) classification of tumors. The updated 2021 WHO classification of tumors of the heart incorporates new entities and reclassifies others. In the new classification system, papillary fibroelastoma is recognized as the most common primary cardiac neoplasm. Pseudotumors including thrombi and anatomic variants (eg, crista terminalis, accessory papillary muscles, or coumadin ridge) are the most common intracardiac masses identified at imaging. Cardiac metastases are substantially more common than primary cardiac tumors. Although echocardiography is usually the first examination, cardiac MRI is the modality of choice for the identification and characterization of cardiac masses. Cardiac CT serves as an alternative in patients who cannot tolerate MRI. PET performed with CT or MRI enables metabolic characterization of malignant cardiac masses. Imaging individualized to a particular tumor type and location is crucial for treatment planning. Tumor terminology changes as our understanding of tumor biology and behavior evolves. Familiarity with the updated classification system is important as a guide to radiologic investigation and medical or surgical management. ©RSNA, 2024 Supplemental material is available for this article.


Subject(s)
Heart Neoplasms , World Health Organization , Heart Neoplasms/diagnostic imaging , Heart Neoplasms/pathology , Humans , Echocardiography/methods , Magnetic Resonance Imaging/methods , Tomography, X-Ray Computed/methods , Multimodal Imaging/methods
10.
Echocardiography ; 41(5): e15830, 2024 May.
Article in English | MEDLINE | ID: mdl-38727181

ABSTRACT

Atrial fibrillation (AF) could impact on left ventricular function leading to a sublinical myocardial dysfunction, as identified by myocardial work parameters in a population-based cohort of AF patients compared with healthy individuals; factors associated with these parameters are also shown. SBP: systolic blood pressure; LAVI: left atrial volume index.


Subject(s)
Atrial Fibrillation , Ventricular Dysfunction, Left , Humans , Atrial Fibrillation/physiopathology , Atrial Fibrillation/complications , Male , Female , Ventricular Dysfunction, Left/physiopathology , Ventricular Dysfunction, Left/diagnostic imaging , Ventricular Dysfunction, Left/etiology , Ventricular Dysfunction, Left/complications , Middle Aged , Echocardiography/methods , Aged
11.
Echocardiography ; 41(5): e15827, 2024 May.
Article in English | MEDLINE | ID: mdl-38716829

ABSTRACT

Congenital diverticulum is an uncommonly detected cardiac lesion, especially in infancy. However, its association with cyanotic congenital heart disease is extremely rare. In the current work, we report a case diagnosed in the neonatal period with tetralogy of Fallot and pulmonary valve atresia associated with a large congenital diverticulum originating from the right ventricle.


Subject(s)
Diverticulum , Heart Ventricles , Pulmonary Atresia , Tetralogy of Fallot , Humans , Tetralogy of Fallot/complications , Tetralogy of Fallot/diagnostic imaging , Pulmonary Atresia/complications , Pulmonary Atresia/diagnostic imaging , Diverticulum/complications , Diverticulum/diagnostic imaging , Heart Ventricles/diagnostic imaging , Heart Ventricles/abnormalities , Infant, Newborn , Echocardiography/methods , Male , Abnormalities, Multiple , Female , Diagnosis, Differential
13.
Medicine (Baltimore) ; 103(18): e38058, 2024 May 03.
Article in English | MEDLINE | ID: mdl-38701248

ABSTRACT

To evaluate the right atrial function in patients with 3-branch coronary artery disease (TBCAD) without myocardial infarction by 2D speckle tracking echocardiography (2D-STE) combined with real-time 3-dimensional echocardiography (RT-3DE). Fifty-six patients admitted to our hospital without myocardial infarction with TBCAD were selected. We divided them into 2 groups according to the coronary angiography results: 28 patients in group B (the rate of stenosis is 50% ~< 75%); 28 patients in group C (the rate of stenosis is ≥75%); in addition, 30 healthy volunteers were screened as group A. All subjects underwent RT-3DE to obtain the right atrial volume (RAVmax, RAVmin, and RAVp), and then we calculated the right atrial passive and active ejection fraction (RAPEF, RAAEF), and maximum volume index (RAVImax). In addition, to measure the strain rates (RASRs, RASRe, RASRa) of the right atrium during systole, early diastole, and late diastole, 2D-STE was applied. Correlations between the 2D-STE parameters and the results of N-terminal pro-brain natriuretic peptide (NT-proBNP) and Gensini scores were analyzed by Pearson linear analysis. Compared with group A, RAPEF and RASRe were reduced, while RAAEF and RASRa were elevated in group B (P < .05). RAPEF, RASRs, RASRe, and RASRa were decreased compared with groups A and B, while RAVmax, RAVmin, RAVp, RAVImax, and RAAEF were increased in group C (P < .05). There was a significant correlation between 2D-STE parameters and the results of NT-proBNP and Gensini scores (P < .05). The storage, conduit, and pump functions of the right atrium are reduced in patients with 3-branch coronary artery disease without myocardial infarction; 2D-STE combined with RT-3DE is valuable in the evaluation of the right atrium in patients with coronary artery disease.


Subject(s)
Coronary Artery Disease , Echocardiography, Three-Dimensional , Heart Atria , Natriuretic Peptide, Brain , Humans , Male , Echocardiography, Three-Dimensional/methods , Female , Middle Aged , Coronary Artery Disease/physiopathology , Coronary Artery Disease/diagnostic imaging , Natriuretic Peptide, Brain/blood , Heart Atria/diagnostic imaging , Heart Atria/physiopathology , Aged , Peptide Fragments/blood , Atrial Function, Right/physiology , Echocardiography/methods , Coronary Angiography/methods
14.
Medicine (Baltimore) ; 103(18): e37847, 2024 May 03.
Article in English | MEDLINE | ID: mdl-38701254

ABSTRACT

RATIONALE: Mitochondrial diseases are a group of disorders in which mutations in mitochondrial DNA or nuclear DNA lead to dysfunctional oxidative phosphorylation of cells, with mutations in mitochondrial DNA being the most common cause of mitochondrial disease, and mutations in nuclear genes being rarely reported. The echocardiographic findings of mitochondrial diseases with nuclear gene mutations in children's hearts are even rarer. Even more valuable is that we followed up the patient for 4 years and dynamically observed the cardiac echocardiographic manifestations of mitochondrial disease. Provide ideas for the clinical diagnosis and prognosis of mitochondrial diseases. PATIENT CONCERNS: The patient was seen in the pediatric outpatient clinic for poor strength and mental retardation. echocardiography: mild left ventricular (LV) enlargement and LV wall thickening. Nuclear genetic testing: uanosine triphosphate binding protein 3 (GTPBP3) gene mutation. Diagnosis of mitochondrial disease. DIAGNOSES: Mitochondrial disease with GTPBP3 gene mutations. OUTCOMES: After receiving drug treatment, the patient exhibited a reduction in lactate levels, an enhanced physical condition compared to prior assessments, and demonstrated average intellectual development. LESSONS SUBSECTIONS: For echocardiographic indications of LV wall thickening and LV enlargement, one needs to be alert to the possibility of hereditary cardiomyopathy, especially in children.


Subject(s)
Echocardiography , Mitochondrial Diseases , Mutation , Female , Humans , Echocardiography/methods , GTP-Binding Proteins/genetics , Mitochondrial Diseases/genetics , Mitochondrial Diseases/diagnostic imaging , Mitochondrial Diseases/diagnosis , Child
15.
Medicine (Baltimore) ; 103(18): e37992, 2024 May 03.
Article in English | MEDLINE | ID: mdl-38701260

ABSTRACT

BACKGROUND: Multiple takayasu arteritis (TA) is a chronic nonspecific large to medium vasculitis disease that mainly accumulates the aorta and its branches. Pulmonary vascular disease is often seen as stenosis and occlusion, and patients may show no moderate to severe pulmonary hypertension (PH). This study aims to summarize the clinical characteristics and analysis of prognostic factors in patients with PH caused by TA. METHODS: Patients diagnosed with aortitis involving the pulmonary artery by pulmonary arteriography or pulmonary artery and total aortic computed tomography arteriography (CTA). All patients underwent detailed clinical assessment, laboratory data collection, and analysis of imaging data. Patients were followed up and factors affecting the prognosis of the pulmonary arteries were analyzed. RESULTS: Most of the patients' complaints were chest tightness, shortness of breath, decreased activity tolerance, hemoptysis and chest pain. 56.90% of the patients were in at the time of admission. Echocardiographic estimation of pulmonary artery systolic pressure was 90.39 ±â€…22.87 mm Hg. In terms of laboratory tests, 39.66%% of the patients had elevated C-reactive protein and erythrocyte sedimentation rate, and amino-terminal natriuretic peptide precursor on admission. In terms of imaging, all patients had pulmonary artery involvement, which was combined with aortic involvement in 31.03%. Nuclide lung perfusion/ventilation imaging of the patients revealed multiple perfusion defects/absences in the segmental and subsegmental distribution of the lungs. Univariate Cox regression model analysis suggested that patients' WHO functional class at admission, age ≧ 51 years at the time of consultation, and amino-terminal natriuretic peptide precursor ≧ 3500 pg/mL were factors affecting the prognosis. Further multifactorial Cox regression model analysis suggested amino-terminal natriuretic peptide precursor ≧ 3500 pg/mL was an independent predictor of poor prognosis with a hazard ratio (HR) value of 5.248. CONCLUSION: Electrocardiogram and echocardiogram may suggest an increased right heart load; some patients have elevated serum inflammatory indexes. Characteristic imaging manifestations include widening of the main pulmonary artery, multiple pulmonary segmental and subsegmental stenoses.


Subject(s)
Hypertension, Pulmonary , Pulmonary Artery , Takayasu Arteritis , Humans , Takayasu Arteritis/complications , Takayasu Arteritis/physiopathology , Female , Hypertension, Pulmonary/etiology , Hypertension, Pulmonary/physiopathology , Retrospective Studies , Adult , Male , Prognosis , Pulmonary Artery/diagnostic imaging , Pulmonary Artery/physiopathology , Middle Aged , Young Adult , Echocardiography/methods , Computed Tomography Angiography/methods
16.
Arq Bras Cardiol ; 121(3): e20230131, 2024.
Article in Portuguese, English | MEDLINE | ID: mdl-38695464

ABSTRACT

BACKGROUND: Cardiovascular complications are the leading cause of mortality in pediatric patients with chronic kidney disease (CKD). Echocardiographic assessment of diastolic function in CKD has been limited to spectral and tissue Doppler imaging, known to be less reliable techniques in pediatrics. Two-dimensional Speckle tracking echocardiography (2DST) derived left atrial (LA) strain has recently been confirmed as a robust measure of diastolic function. OBJECTIVES: To investigate LA strain role in diastolic assessment of children at different stages of CKD. METHODS: From February 2019 to July 2022, 55 CKD patients without cardiovascular symptoms and 55 controls were evaluated by standard and 2DST echocardiograms. The level of significance was set at 5% (p<0.05). RESULTS: Patients and controls had similar age [9.78 (0.89 - 17.54) vs. 10.72 (1.03 -18,44) years; p = 0.41] and gender (36M:19F vs. 34M:21F; p=0.84). There were 25 non-dialysis patients and 30 dialysis patients. Left ventricular ejection fraction was ≥ 55% in all of them. Comparing CKD and controls, LA reservoir strain was lower (48.22±10.62% vs. 58.52±10.70%) and LA stiffness index was higher [0.14 (0.08-0.48)%-1 vs. 0.11 (0.06-0.23) %-1]; p<0.0001. LV hypertrophy was associated with lower LA reservoir strain (42.05±8.74% vs. 52.99±9.52%), higher LA stiffness [0.23(0.11 - 0.48)%-1 vs. 0.13 (0.08-0.23) %-1 and filling indexes (2.39±0.63 cm/s x %-1 vs. 1.74±0.47 cm/s x %-1; p<0.0001. Uncontrolled hypertension was associated with lower LA reservoir strain (41.9±10.6% vs. 50.6±9.7; p=0.005). CONCLUSIONS: LA strain proved to be a feasible tool in the assessment of pediatric CKD patients and was associated with known cardiovascular risk factors.


FUNDAMENTO: As complicações cardiovasculares são a principal causa de morte em pacientes pediátricos com doença renal crônica (DRC). A avaliação ecocardiográfica da função diastólica na DRC tem se limitado à avaliação espectral por Doppler espectral e por Doppler tecidual, técnicas sabidamente menos confiáveis na pediatria. O strain do átrio esquerdo (AE) pela técnica do speckle tracking bidimensional (2DST) foi recentemente confirmada como uma medida robusta da função diastólica. OBJETIVOS: Investigar o papel do strain do AE na avaliação da função diastólica de crianças em diferentes estágios da DRC. MÉTODOS: De fevereiro de 2019 a julho de 2022, 55 pacientes com DRC sem sintomas cardiovasculares e 55 controles foram avaliados por ecocardiografia convencional e por ecocardiografia com 2DST. O nível de significância adotado foi de 5% (p < 0,05). RESULTADOS: Pacientes e controles tinham idade similares [9,78 (0,89 ­ 17,54) vs. 10,72 (1,03 ­18,44) anos; p = 0,41] e sexo (36M:19F vs. 34M:21F; p = 0,84) similares. Havia 25 pacientes não dialíticos e 30 pacientes dialíticos. A fração de ejeção do ventrículo esquerdo foi ≥ 55% em todos. Em comparação aos controles, os pacientes com DRC apresentaram strain de reservatório mais baixo (48,22±10,62% vs. 58,52±10,70%) e índice de rigidez do AE mais alto [0,14 (0,08­0,48)%-1 vs. 0,11 (0,06­0,23) %-1]; p<0,0001. A hipertrofia ventricular esquerda associou-se com um strain de reservatório mais baixo (42,05±8,74% vs. 52,99±9,52%), e valores mais altos de índice de rigidez [0,23 (0,11 ­ 0,48)%-1 vs. 0,13 (0,08­0,23) %-1 e de índice de enchimento do AE (2,39±0,63 cm/s x %-1 vs. 1,74±0,47 cm/s x %-1; p<0,0001). Hipertensão não controlada associou-se com strain de reservatório do AE mais baixo (41,9±10,6% vs. 50,6±9,7; p=0,005). CONCLUSÃO: O strain do AE mostrou-se uma ferramenta útil na avaliação de pacientes pediátricos com DRC e associado com fatores de risco cardiovasculares conhecidos.


Subject(s)
Diastole , Echocardiography , Renal Insufficiency, Chronic , Humans , Female , Male , Child , Renal Insufficiency, Chronic/physiopathology , Renal Insufficiency, Chronic/complications , Renal Insufficiency, Chronic/diagnostic imaging , Adolescent , Diastole/physiology , Child, Preschool , Case-Control Studies , Echocardiography/methods , Infant , Stroke Volume/physiology , Echocardiography, Doppler/methods , Ventricular Function, Left/physiology , Heart Atria/physiopathology , Heart Atria/diagnostic imaging , Reference Values
17.
Echocardiography ; 41(5): e15825, 2024 May.
Article in English | MEDLINE | ID: mdl-38690622

ABSTRACT

Adaptation of the heart is often a blessing for the patient, but sometimes a diagnostic challenge for the responsible physician. The clinical difficulty may be enhanced when employing diagnostic tools that are hard to interpret. Ratio-based metrics are notorious in this respect, and particularly risky in the follow-up evaluation of heart transplant patients. However, measures expressed as physical units contribute to a comprehensive clinical evaluation and guide proper patient management.


Subject(s)
Heart Transplantation , Humans , Echocardiography/methods , Patient Selection
19.
Glob Heart ; 23: 28, 2024.
Article in English | MEDLINE | ID: mdl-38737456

ABSTRACT

Background: Patients diagnosed with Marfan syndrome or a related syndrome require frequent aorta monitoring using imaging techniques like transthoracic echocardiography (TTE) and computed tomography (CT). Accurate aortic measurement is crucial, as even slight enlargement (>2 mm) often necessitates surgical intervention. The 2022 ACC/AHA guideline for Aortic Disease Diagnosis and Management includes updated imaging recommendations. We aimed to compare these with the 2010 guideline. Methods: This retrospective study involved 137 patients with Marfan syndrome or a related disorder, undergoing TTE and ECG-triggered CT. Aortic diameter measurements were taken based on the old 2010 guideline (TTE: inner edge to inner edge, CT: external diameter) and the new 2022 guideline (TTE: leading edge to leading edge, CT: internal diameter). Bland-Altman plots compared measurement differences. Results: Using the 2022 guideline significantly reduced differences outside the clinical agreement limit from 49% to 26% for the aortic sinus and from 41% to 29% for the ascending aorta. Mean differences were -0.30 mm for the aortic sinus and +1.12 mm for the ascending aorta using the 2022 guideline, compared to -2.66 mm and +1.21 mm using the 2010 guideline. Conclusion: This study demonstrates for the first time that the 2022 ACC/AHA guideline improves concordance between ECG-triggered CT and TTE measurements in Marfan syndrome patients, crucial for preventing life-threatening aortic complications. However, the frequency of differences >2 mm remains high. Clinical Relevance/Application: Accurate aortic diameter measurement is vital for patients at risk of fatal aortic complications. While the 2022 guideline enhances concordance between imaging modalities, frequent differences >2 mm persist, potentially impacting decisions on aortic repair. The risk of repeat radiation exposure from ECG-triggered CT, considered the 'gold standard', continues to be justified.


Subject(s)
Echocardiography , Marfan Syndrome , Tomography, X-Ray Computed , Humans , Marfan Syndrome/diagnostic imaging , Marfan Syndrome/diagnosis , Retrospective Studies , Male , Female , Echocardiography/methods , Adult , Tomography, X-Ray Computed/methods , Middle Aged , Practice Guidelines as Topic , United States/epidemiology , Young Adult , Aorta/diagnostic imaging , Adolescent
20.
Int J Cardiol ; 406: 132072, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38643795

ABSTRACT

BACKGROUND: Dysfunction of the left ventricular (LV) apex (apical variant) is the most common form in Takotsubo syndrome (TS). Several less common non-apical variants have been described - mid-ventricular, basal and focal. We hypothesised that the clinical presentation, and electrocardiographic (ECG) findings may vary between apical and non-apical TS. METHODS: We prospectively identified 194 consecutive patients with TS presenting to Middlemore Hospital, Auckland and obtained clinical, echocardiography, coronary angiography, and long-term follow-up data. ECGs at admission and Day 1 were compared. RESULTS: Of 194 patients with TS, 168 (86.6%) had apical TS, and 26 (13.4%) non-apical TS (11 mid-ventricular TS, 5 basal TS, 10 focal TS). Apical TS patients had more significant LV systolic impairment (p = 0.001) and longer length of stay (p = 0.001). The extent of T-wave inversion (TWI) was similar for both groups on admission (p = 0.88). By Day 1 the extent of TWI was greater in apical TS group (median number of leads 5 vs. 1, p = 0.02). The change in QTc interval between admission and Day 1 was greater in apical TS group (29.7 ms vs. 2.77 ms, p < 0.001). Composite in-hospital complication rate was similar for both groups (13.7% vs. 15.4%, p = 0.77). CONCLUSIONS: Compared with non-apical variants, apical TS patients develop more extensive TWI and greater QT prolongation on ECG, and more significant LV systolic impairment, but in-hospital complications were similar. Clinicians should be aware that there is a sub-group of TS patients who have non-apical regional wall motion abnormalities and who don't develop ECG changes typical of the more common apical variant.


Subject(s)
Electrocardiography , Takotsubo Cardiomyopathy , Humans , Takotsubo Cardiomyopathy/physiopathology , Takotsubo Cardiomyopathy/diagnosis , Takotsubo Cardiomyopathy/diagnostic imaging , Female , Male , Electrocardiography/methods , Aged , Prospective Studies , Middle Aged , Follow-Up Studies , Echocardiography/methods , Aged, 80 and over
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