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Journal of Clinical Medicine Feb 2024Hypereosinophilic syndrome (HES) is considered to be a rare myeloproliferative disease that is characterized by persistent eosinophilia with associated multiple-organ... (Review)
Review
Hypereosinophilic syndrome (HES) is considered to be a rare myeloproliferative disease that is characterized by persistent eosinophilia with associated multiple-organ damage. The heart is often involved in HES, representing a major cause of morbidity and mortality. HES is a heterogeneous group of disorders; the majority of the cases are idiopathic. Summarizing the findings regarding myocardial, valvular, and vascular abnormalities in a series of patients with HES, most studies found normal left ventricular (LV) volumes with reduced LV global longitudinal strain and LV apical rotation and twist in HES cases, accompanied by increased left atrial (LA) volumes and stroke volumes, reduced peak LA circumferential strain (representing systolic abnormalities), and mitral annular dilation and functional deterioration. Regarding the right heart, preserved right ventricular volumes and functional properties, increased right atrial volumes, mild RA functional abnormalities, and dilated tricuspid annular dimensions without functional impairment could be seen in these studies. Aortic and pulmonary valves showed no specific disease-related alterations. Vascular abnormalities included increased aortic stiffness without dilation of the aorta and pulmonary hypertension in some cases. These results suggest disease-specific but relatively mild myocardial, valvular, and vascular abnormalities in HES. The present review aimed to summarize the available clinical data about cardiac mechanics and valvular and vascular abnormalities in a series of patients with HES.
PubMed: 38592243
DOI: 10.3390/jcm13051403 -
Annals of Medicine and Surgery (2012) Apr 2024Systemic lupus erythematosus (SLE) predominantly affects young women and is associated with an increased risk of thrombosis. Antiphospholipid antibody syndrome (APS) may...
INTRODUCTION AND IMPORTANCE
Systemic lupus erythematosus (SLE) predominantly affects young women and is associated with an increased risk of thrombosis. Antiphospholipid antibody syndrome (APS) may complicate the clinical picture, often leading to recurrent arteriovenous thrombosis. This case report underscores the significance of two unique aspects: the rare occurrence of an atrial thrombus and the presence of antinuclear antibody (ANA)-negative SLE.
CASE PRESENTATION
A 32-year-old woman presented with a history of symmetric polyarticular joint pain, oral ulcers, significant weight loss, and a history of unprovoked popliteal thrombosis and two unexplained abortions. One week prior to admission, she experienced severe headaches and elevated blood pressure. Clinical evaluation revealed several abnormalities, including a systolic murmur, livedo reticularis, and a transthoracic echocardiogram showing severe mitral regurgitation and an atrial thrombus. A transesophageal echocardiogram confirmed the presence of a pedunculated lesion in the right atria, challenging differential diagnosis.
CLINICAL DISCUSSION
ANA-negative SLE, though rare, was observed in this patient, highlighting diagnostic complexities. APS compounded the clinical presentation, emphasizing the importance of identifying specific autoantibodies and recurrent thrombotic events. In the case of atrial thrombus, differentiation from other cardiac conditions, such as myxoma or vegetation, is a key.
CONCLUSIONS
This case underscores the critical importance of recognizing and managing atrial thrombus, a rare but life-threatening complication in patients with systemic lupus erythematosus and antiphospholipid syndrome. Additionally, the diagnostic challenge of ANA-negative SLE warrants careful consideration in patients presenting with characteristic features of the disease.
PubMed: 38576990
DOI: 10.1097/MS9.0000000000001668 -
World Journal of Cardiology Mar 2024Several anatomical, demographic, clinical, electrocardiographic, procedural, and valve-related variables can be used to predict the probability of developing conduction...
Several anatomical, demographic, clinical, electrocardiographic, procedural, and valve-related variables can be used to predict the probability of developing conduction abnormalities after transcatheter aortic valve replacement (TAVR) that necessitate permanent pacemaker (PPM) implantation. These variables include calcifications around the device landing zone and in the mitral annulus; pre-existing electrocardiographic abnormalities such as left and right bundle branch blocks (BBB), first- and second-degree atrioventricular blocks, as well as bifascicular and trifascicular blocks; male sex; diabetes mellitus (DM); hypertension; history of atrial fibrillation; renal failure; dementia; and use of self-expanding valves. The current study supports existing literature by demonstrating that type 2 DM and baseline right BBB are significant predictors of PPM implantation post-TAVR. Regardless of the side of the BBB, this study demonstrated, for the first time, a linear association between the incidence of PPM implantation post-TAVR and every 20 ms increase in baseline QRS duration (above 100 ms). After a 1-year follow-up, patients who received PPM post-TAVR had a higher rate of hospitalization for heart failure and nonfatal myocardial infarction.
PubMed: 38576520
DOI: 10.4330/wjc.v16.i3.104 -
Journal of Cardiovascular Development... Mar 2024Mutations in the -gene can cause a variety of 'laminopathies'. These laminopathies are associated with a range of phenotypes, including disorders affecting the adipose...
Mutations in the -gene can cause a variety of 'laminopathies'. These laminopathies are associated with a range of phenotypes, including disorders affecting the adipose tissue, peripheral nerves, the heart, such as dilated cardiomyopathy and conduction system abnormalities, and less commonly, progeroid disorders. This case series describes two families in which two novel LMNA-gene variants were identified, and who presented with an atypical progeroid phenotype with primarily premature aortic and mitral valve stenosis. Interestingly, these families exhibited no clear evidence of multisystem involvement, illustrating the complex role of lamins A/C.
PubMed: 38535109
DOI: 10.3390/jcdd11030086 -
International Journal of Cardiology Jul 2024Loeys-Dietz syndrome (LDS) is a heritable disease that is the result of dysregulation of the transforming growth factor beta (TGFβ) pathway. The pathogenic variants...
INTRODUCTION
Loeys-Dietz syndrome (LDS) is a heritable disease that is the result of dysregulation of the transforming growth factor beta (TGFβ) pathway. The pathogenic variants associated with the condition are linked to aortic aneurysms and dissections along with other cardiovascular and non-cardiovascular abnormalities. LDS type III is associated with pathogenic variants in the SMAD3 gene responsible for signally in the TGFβ pathway. Most of the current knowledge of LDS stems from studies of LDS I and II patient with limited data on large cohorts of LDS III patients. We sought to identify the prevalence and course of cardiovascular diseases in a large familial cohort of LDS III patients and also to compare these findings with a previously described cohort of similar size with the identical pathogenic variant.
METHODS
The cohort was identified by systematic genetic screening of a familial cohort identified through a single proband. Data was collected from retrospective chart review of patients identified to be affected by the syndrome.
RESULTS
Screening of 97 patients identified 19 patients (16 through genetic testing and 3 through phenotypic screening of untested direct descendants of genetically positive individuals). The prevalence of cardiovascular abnormalities was 84%. There was significant intrafamilial phenotypic variability within the cohort with the predominant cardiovascular abnormality being mitral valve disease followed by aortic disease. 92% of patients >18 years of age had osteoarthritis which is a further hallmark of LDS III.
CONCLUSION
LDS III sets itself apart from the more widely studied LDS types I and II cardiovascular phenotypes by presenting later in life and tending to be more strongly associated with mitral valve disease.
Topics: Humans; Loeys-Dietz Syndrome; Male; Female; Adult; Prognosis; Cohort Studies; Middle Aged; Adolescent; Retrospective Studies; Young Adult; Cardiovascular Diseases; Child; Pedigree; Aged; Genetic Testing
PubMed: 38508323
DOI: 10.1016/j.ijcard.2024.131984 -
Cureus Feb 2024Marfan syndrome (MFS) is a progressive connective tissue disease with a broad range of clinical manifestations. We sought to establish the spectrum of structural... (Review)
Review
Marfan syndrome (MFS) is a progressive connective tissue disease with a broad range of clinical manifestations. We sought to establish the spectrum of structural valvular abnormalities as cardiovascular involvement has been identified as the most life-threatening aspect of the syndrome. This was a systematic review with a meta-analysis of studies indexed in Medline from the inception of the database to November 7, 2022. Using the random-effects model, separate Forest and Galbraith plots were generated for each valvular abnormality assessed. Heterogeneity was assessed using the statistics whilst funnel plots and Egger's test were used to assess for publication bias. From a total of 35 studies, a random-effects meta-analysis approximated the pooled summary estimates for the prevalence of cardiac valve abnormalities as mitral valve prolapse 65% (95% CI: 57%-73%); mitral valve regurgitation 40% (95% CI: 29%-51%); aortic valve regurgitation 40% (95% CI: 28%-53%); tricuspid valve prolapse 35% (95% CI: 15%-55%); and tricuspid valve regurgitation 43% (95% CI: 8%-78%). Only one study reported on the involvement of the pulmonary valve (pulmonary valve prolapse was estimated at 5.3% (95% CI: 1.9%-11.1%) in a cohort of 114 patients with MFS). We believe this study provides a description of the structural valvular disease spectrum and may help inform providers and patients in understanding the clinical history of MFS in the current treatment era with its increased life expectancy.
PubMed: 38487153
DOI: 10.7759/cureus.54141 -
Orphanet Journal of Rare Diseases Mar 2024Very little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients with osteogenesis imperfecta (OI). The aim...
BACKGROUND
Very little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients with osteogenesis imperfecta (OI). The aim of our study was to investigate the characteristics, prevalence and correlation of echocardiographic abnormalities and joint hypermobility in Chinese patients with OI.
METHODS
A cross-sectional comparative study was conducted in pediatric and adult OI patients who were matched in age and sex with healthy controls. Transthoracic echocardiography was performed in all patients and controls, and parameters were indexed for body surface area (BSA). The Beighton score was used to evaluate the degree of joint hypermobility.
RESULTS
A total of 48 patients with OI (25 juveniles and 23 adults) and 129 age- and sex-matched healthy controls (79 juveniles and 50 adults) were studied. Four genes (COL1A1, COL1A2, IFITM5, and WNT1) and 39 different mutation loci were identified in our study. Mild valvular regurgitation was the most common cardiac abnormality: mild mitral and tricuspid regurgitation was found in 12% and 36% of pediatric OI patients, respectively; among 23 OI adults, 13% and 17% of patients had mild mitral and tricuspid regurgitation, respectively, and 4% had mild aortic regurgitation. In multiple regression analysis, OI was the key predictor of left atrium diameter (LAD) (β=-3.670, P < 0.001) and fractional shortening (FS) (β = 3.005, P = 0.037) in juveniles, whereas for adults, OI was a significant predictor of LAD (β=-3.621, P < 0.001) and left ventricular mass (LVM) (β = 58.928, P < 0.001). The percentages of generalized joint hypermobility in OI juveniles and adults were 56% and 20%, respectively. Additionally, only in the OI juvenile group did the results of the Mann‒Whitney U test show that the degree of joint hypermobility was significantly different between the echocardiographic normal and abnormal groups (P = 0.004).
CONCLUSIONS
Mild valvular regurgitation was the most common cardiac abnormality in both OI juveniles and adults. Compared with OI adults, OI juveniles had more prevalent and wider joint hypermobility. Echocardiographic abnormalities may imply that the impairment of type I collagen is more serious in OI. Baseline echocardiography should be performed in OI patients as early as possible.
Topics: Adult; Humans; Child; Osteogenesis Imperfecta; Joint Instability; Cross-Sectional Studies; Tricuspid Valve Insufficiency; Collagen Type I; Echocardiography; Heart Defects, Congenital; Mutation; China
PubMed: 38475860
DOI: 10.1186/s13023-024-03089-x -
BMC Cardiovascular Disorders Mar 2024Tricuspid regurgitation (TR) is a prevalent disease that triggers systemic pathological changes including cardiac, respiratory, hepatic and digestive, hematopoietic,...
BACKGROUND
Tricuspid regurgitation (TR) is a prevalent disease that triggers systemic pathological changes including cardiac, respiratory, hepatic and digestive, hematopoietic, renal and skin issues. The burden of extra-cardiac manifestations has not been well described in TR patients and the clinical impact is unknown.
METHODS
Patients with severe or more-than-severe TR during hospitalization, who did not have any previous cardiac procedures, hemodynamically significant congenital heart disease or concomitant severe aortic or mitral valve disease, were retrospectively analyzed. Pre-specified criteria and diagnosis of baseline characteristics were used to evaluate the presence of extra-cardiac manifestations secondary to TR after excluding comorbidities that may also lead to corresponding abnormalities. Extra-cardiac involvements encompass respiratory, hepatic and, digestive, renal, hematopoietic and dermatic system. Staging criteria are defined as no extra-cardiac system involvement in Stage 1, one in Stage 2, at least two extra-cardiac involvements in Stage 3 and any end-stage organ failure in Stage 4. A telephone follow-up was conducted to record the composite endpoint namely all-cause death or cardiac rehospitalization after the index hospitalization.
RESULTS
A total of 258 patients were identified with a median age of 73 (interquartile range [IQR]: 62-83) years and 52.3% were female. Severe TR and more-than-severe TR patients accounted for 92.6% and 7.4% of the cohort. There were 20.5%, 27.5%, 37.6% and 14.3% of patients from Stage 1 to 4 respectively. The follow-up time was at a median of 251 (IQR: 183-324) days. TR Patients in Stage 3&4 were at an increased risk with borderline statistical significance to experience the composite endpoint compared to patients in Stage 1&2 (odds ratio [OR] 1.9, 95% confidence interval [CI] 1.0 to 3.7, P = 0.049).
CONCLUSIONS
Approximately half of patients with at least severe TR presented with two or more extra-cardiac systemic manifestations, which may incur a 1.9-fold higher risk of all-cause death or cardiac rehospitalization than TR patients with one or less extra-cardiac involvement.
Topics: Humans; Female; Middle Aged; Aged; Aged, 80 and over; Male; Tricuspid Valve Insufficiency; Retrospective Studies; Heart Valve Prosthesis Implantation; Treatment Outcome; Risk Assessment; Hemodynamics
PubMed: 38475690
DOI: 10.1186/s12872-024-03805-2 -
European Heart Journal. Cardiovascular... May 2024Previously, we demonstrated that inferolateral mitral annular disjunction (MAD) is more prevalent in patients with idiopathic ventricular fibrillation (IVF) than in...
AIMS
Previously, we demonstrated that inferolateral mitral annular disjunction (MAD) is more prevalent in patients with idiopathic ventricular fibrillation (IVF) than in healthy controls. In the present study, we advanced the insights into the prevalence and ventricular arrhythmogenicity by inferolateral MAD in an even larger IVF cohort.
METHODS AND RESULTS
This retrospective multi-centre study included 185 IVF patients [median age 39 (27, 52) years, 40% female]. Cardiac magnetic resonance images were analyzed for mitral valve and annular abnormalities and late gadolinium enhancement. Clinical characteristics were compared between patients with and without MAD. MAD in any of the 4 locations was present in 112 (61%) IVF patients and inferolateral MAD was identified in 24 (13%) IVF patients. Mitral valve prolapse (MVP) was found in 13 (7%) IVF patients. MVP was more prevalent in patients with inferolateral MAD compared with patients without inferolateral MAD (42 vs. 2%, P < 0.001). Pro-arrhythmic characteristics in terms of a high burden of premature ventricular complexes (PVCs) and non-sustained ventricular tachycardia (VT) were more prevalent in patients with inferolateral MAD compared to patients without inferolateral MAD (67 vs. 23%, P < 0.001 and 63 vs. 41%, P = 0.046, respectively). Appropriate implantable cardioverter defibrillator therapy during follow-up was comparable for IVF patients with or without inferolateral MAD (13 vs. 18%, P = 0.579).
CONCLUSION
A high prevalence of inferolateral MAD and MVP is a consistent finding in this large IVF cohort. The presence of inferolateral MAD is associated with a higher PVC burden and non-sustained VTs. Further research is needed to explain this potential interplay.
Topics: Humans; Female; Ventricular Fibrillation; Male; Retrospective Studies; Middle Aged; Adult; Magnetic Resonance Imaging, Cine; Mitral Valve; Cohort Studies; Mitral Valve Prolapse; Prevalence; Risk Assessment
PubMed: 38412329
DOI: 10.1093/ehjci/jeae054 -
Journal of Medicine and Life Nov 2023Cardiovascular pathology can complicate the course of COVID-19. The study aimed to identify echocardiographic abnormalities and key prognostic factors influencing severe...
Cardiovascular pathology can complicate the course of COVID-19. The study aimed to identify echocardiographic abnormalities and key prognostic factors influencing severe and fatal COVID-19 outcomes. This retrospective cohort study included clinical and echocardiogram data from 194 medical records of hospitalized patients with COVID-19: 100 moderate cases, 34 severe cases with favorable outcomes, and 60 severe cases with fatal outcomes. Severe patients with favorable outcomes had greater reductions in left ventricular systolic fraction of left ventricle compared to moderate cases (23.5% . 7.0%, respectively, p=0.008) and ejection fraction of left ventricle (14.7% . 3.0%, respectively, p=0.013), grade I diastolic dysfunction of the left ventricle (20.6% . 8.0%, respectively, p=0.044), and pulmonary hypertension (29.41% . 10.0%, respectively, p=0.006). Patients with fatal outcomes had a mean age of 67.1±1.51 years, chronic heart failure functional class II (58.3%), hypertension (50.0%), type 2 diabetes (43.3%), and obesity (33.3%). Compared to severe cases but with favorable outcomes, fatal cases had a greater decrease in left ventricular ejection fraction (36.7% . 14.7%, respectively, p=0.024), various types of myocardial dysfunction (51.7% . 29.4%, respectively, p=0.037) and a trend towards increased pulmonary hypertension (48.3% . 29.4%, respectively, p=0.074). Consequently, chronic heart failure class II, reduced left ventricular ejection fraction, various myocardial dysfunctions, and pulmonary hypertension emerged as key cardiac risk factors for severe disease progression and mortality in patients with COVID-19.
Topics: Humans; Aged; Ventricular Function, Left; Hypertension, Pulmonary; Stroke Volume; Diabetes Mellitus, Type 2; Retrospective Studies; COVID-19; Echocardiography; Heart Failure
PubMed: 38406777
DOI: 10.25122/jml-2023-0206