Pub Date : 2024-05-01Epub Date: 2024-02-14DOI: 10.1097/HCO.0000000000001121
Stormi E Gale, Andrew Willeford, Katherine Sandquist, Kristin Watson
Purpose of review: Iron deficiency is common in patients with heart failure, affecting up to half of ambulatory patients and an even greater percentage of patients admitted for acute decompensation. Iron deficiency in this population is also associated with poor outcomes, including worse quality of life in addition to increased hospitalizations for heart failure and mortality. Evidence suggests that patients with iron deficiency in heart failure may benefit from repletion with IV iron.
Recent findings: In this review, we outline the etiology and pathophysiology of iron deficiency in heart failure as well as various iron formulations available. We discuss evidence for intravenous iron repletion with a particular focus on recent studies that have evaluated its effects on hospitalizations and mortality. Finally, we discuss areas of uncertainty and future study and provide practical guidance for iron repletion.
Summary: In summary, there is overwhelming evidence that intravenous iron repletion in patients with iron deficiency in heart failure is both beneficial and safe. However, further evidence is needed to better identify which patients would most benefit from iron repletion as well as the ideal repletion strategy.
{"title":"Intravenous iron in patients with iron deficiency and heart failure: a review of modern evidence.","authors":"Stormi E Gale, Andrew Willeford, Katherine Sandquist, Kristin Watson","doi":"10.1097/HCO.0000000000001121","DOIUrl":"10.1097/HCO.0000000000001121","url":null,"abstract":"<p><strong>Purpose of review: </strong>Iron deficiency is common in patients with heart failure, affecting up to half of ambulatory patients and an even greater percentage of patients admitted for acute decompensation. Iron deficiency in this population is also associated with poor outcomes, including worse quality of life in addition to increased hospitalizations for heart failure and mortality. Evidence suggests that patients with iron deficiency in heart failure may benefit from repletion with IV iron.</p><p><strong>Recent findings: </strong>In this review, we outline the etiology and pathophysiology of iron deficiency in heart failure as well as various iron formulations available. We discuss evidence for intravenous iron repletion with a particular focus on recent studies that have evaluated its effects on hospitalizations and mortality. Finally, we discuss areas of uncertainty and future study and provide practical guidance for iron repletion.</p><p><strong>Summary: </strong>In summary, there is overwhelming evidence that intravenous iron repletion in patients with iron deficiency in heart failure is both beneficial and safe. However, further evidence is needed to better identify which patients would most benefit from iron repletion as well as the ideal repletion strategy.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139731045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-03-13DOI: 10.1097/HCO.0000000000001116
Catharine Bowman, Stanley G Rockson
Purpose of review: The lymphatic system facilitates several key functions that limit significant morbidity and mortality. Despite the impact and burden of lymphatic disorders, there are many remaining disorders whose genetic substrate remains unknown. The purpose of this review is to provide an update on the genetic causes of lymphatic disorders, while reporting on newly proposed clinical classifications of lymphatic disease.
Recent findings: We reviewed several new mutations in genes that have been identified as potential causes of lymphatic disorders including: MDFIC, EPHB 4 , and ANGPT2. Furthermore, the traditional St. George's Classification system for primary lymphatic anomalies has been updated to reflect the use of genetic testing, both as a tool for the clinical identification of lymphatic disease and as a method through which new sub-classifications of lymphatic disorders have been established within this framework. Finally, we highlighted recent clinical studies that have explored the impact of therapies such as sirolimus, ketoprofen, and acebilustat on lymphatic disorders.
Summary: Despite a growing body of evidence, current literature demonstrates a persistent gap in the number of known genes responsible for lymphatic disease entities. Recent clinical classification tools have been introduced in order to integrate traditional symptom- and time-based diagnostic approaches with modern genetic classifications, as highlighted in the updated St. George's classification system. With the introduction of this novel approach, clinicians may be better equipped to recognize established disease and, potentially, to identify novel causal mutations. Further research is needed to identify additional genetic causes of disease and to optimize current clinical tools for diagnosis and treatment.
{"title":"Genetic causes of lymphatic disorders: recent updates on the clinical and molecular aspects of lymphatic disease.","authors":"Catharine Bowman, Stanley G Rockson","doi":"10.1097/HCO.0000000000001116","DOIUrl":"10.1097/HCO.0000000000001116","url":null,"abstract":"<p><strong>Purpose of review: </strong>The lymphatic system facilitates several key functions that limit significant morbidity and mortality. Despite the impact and burden of lymphatic disorders, there are many remaining disorders whose genetic substrate remains unknown. The purpose of this review is to provide an update on the genetic causes of lymphatic disorders, while reporting on newly proposed clinical classifications of lymphatic disease.</p><p><strong>Recent findings: </strong>We reviewed several new mutations in genes that have been identified as potential causes of lymphatic disorders including: MDFIC, EPHB 4 , and ANGPT2. Furthermore, the traditional St. George's Classification system for primary lymphatic anomalies has been updated to reflect the use of genetic testing, both as a tool for the clinical identification of lymphatic disease and as a method through which new sub-classifications of lymphatic disorders have been established within this framework. Finally, we highlighted recent clinical studies that have explored the impact of therapies such as sirolimus, ketoprofen, and acebilustat on lymphatic disorders.</p><p><strong>Summary: </strong>Despite a growing body of evidence, current literature demonstrates a persistent gap in the number of known genes responsible for lymphatic disease entities. Recent clinical classification tools have been introduced in order to integrate traditional symptom- and time-based diagnostic approaches with modern genetic classifications, as highlighted in the updated St. George's classification system. With the introduction of this novel approach, clinicians may be better equipped to recognize established disease and, potentially, to identify novel causal mutations. Further research is needed to identify additional genetic causes of disease and to optimize current clinical tools for diagnosis and treatment.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-01-31DOI: 10.1097/HCO.0000000000001117
Federico Capone, Natasha Nambiar, Gabriele G Schiattarella
Purpose of review: Incretin-based drugs are potent weight-lowering agents, emerging as potential breakthrough therapy for the treatment of obesity-related phenotype of heart failure with preserved ejection fraction (HFpEF). In this review article, we will discuss the contribution of weight loss as part of the benefits of incretin-based medications in obese patients with HFpEF. Furthermore, we will describe the potential effects of glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic polypeptide (GIP) receptor agonists on the heart, particularly in relation to HFpEF pathophysiology.
Recent findings: In the STEP-HFpEF trial, the GLP-1 receptor agonist semaglutide significantly improved quality of life outcomes in obese HFpEF patients. Whether the beneficial effects of semaglutide in obese patients with HFpEF are merely a consequence of body weight reduction is unclear. Considering the availability of other weight loss strategies (e.g., caloric restriction, exercise training, bariatric surgery) to be used in obese HFpEF patients, answering this question is crucial to provide tailored therapeutic options in these subjects.
Summary: Incretin-based drugs may represent a milestone in the treatment of obesity in HFpEF. Elucidating the contribution of weight loss in the overall benefit observed with these drugs is critical in the management of obese HFpEF patients, considering that other weight-lowering strategies are available and might represent potential alternative options for these patients.
{"title":"Beyond Weight Loss: the Emerging Role of Incretin-Based Treatments in Cardiometabolic HFpEF.","authors":"Federico Capone, Natasha Nambiar, Gabriele G Schiattarella","doi":"10.1097/HCO.0000000000001117","DOIUrl":"10.1097/HCO.0000000000001117","url":null,"abstract":"<p><strong>Purpose of review: </strong>Incretin-based drugs are potent weight-lowering agents, emerging as potential breakthrough therapy for the treatment of obesity-related phenotype of heart failure with preserved ejection fraction (HFpEF). In this review article, we will discuss the contribution of weight loss as part of the benefits of incretin-based medications in obese patients with HFpEF. Furthermore, we will describe the potential effects of glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic polypeptide (GIP) receptor agonists on the heart, particularly in relation to HFpEF pathophysiology.</p><p><strong>Recent findings: </strong>In the STEP-HFpEF trial, the GLP-1 receptor agonist semaglutide significantly improved quality of life outcomes in obese HFpEF patients. Whether the beneficial effects of semaglutide in obese patients with HFpEF are merely a consequence of body weight reduction is unclear. Considering the availability of other weight loss strategies (e.g., caloric restriction, exercise training, bariatric surgery) to be used in obese HFpEF patients, answering this question is crucial to provide tailored therapeutic options in these subjects.</p><p><strong>Summary: </strong>Incretin-based drugs may represent a milestone in the treatment of obesity in HFpEF. Elucidating the contribution of weight loss in the overall benefit observed with these drugs is critical in the management of obese HFpEF patients, considering that other weight-lowering strategies are available and might represent potential alternative options for these patients.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139643451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-02-16DOI: 10.1097/HCO.0000000000001124
Art Schuermans, Frederik H Verbrugge
Purpose of review: To summarize the contemporary evidence on decongestion strategies in patients with acute heart failure (AHF).
Recent findings: While loop diuretic therapy has remained the backbone of decongestive treatment in AHF, multiple randomized clinical trials suggest that early combination with other diuretic classes or molecules with diuretic properties should be considered. Mineralocorticoid receptor antagonists and sodium-glucose co-transporter-2 inhibitors are disease-modifying drugs in heart failure that favourably influence prognosis early on, advocating their start as soon as possible in the absence of any compelling contraindications. Short-term upfront use of acetazolamide in adjunction to intravenous loop diuretic therapy relieves congestion faster, avoids diuretic resistance, and may shorten hospitalization length. Thiazide-like diuretics remain a good option to break diuretic resistance. Currently, ultrafiltration in AHF remains mainly reserved for patient with an inadequate response to pharmacological treatment.
Summary: In most patients with AHF, decongestion can be achieved effectively and safely through combination diuretic therapies. Appropriate diuretic therapy may shorten hospitalization length and improve quality of life, but has not yet proven to reduce death or heart failure readmissions. Ultrafiltration currently has a limited role in AHF, mainly as bail-out strategy, but evidence for a more upfront use remains inconclusive.
{"title":"Decongestion (instead of ultrafiltration?).","authors":"Art Schuermans, Frederik H Verbrugge","doi":"10.1097/HCO.0000000000001124","DOIUrl":"10.1097/HCO.0000000000001124","url":null,"abstract":"<p><strong>Purpose of review: </strong>To summarize the contemporary evidence on decongestion strategies in patients with acute heart failure (AHF).</p><p><strong>Recent findings: </strong>While loop diuretic therapy has remained the backbone of decongestive treatment in AHF, multiple randomized clinical trials suggest that early combination with other diuretic classes or molecules with diuretic properties should be considered. Mineralocorticoid receptor antagonists and sodium-glucose co-transporter-2 inhibitors are disease-modifying drugs in heart failure that favourably influence prognosis early on, advocating their start as soon as possible in the absence of any compelling contraindications. Short-term upfront use of acetazolamide in adjunction to intravenous loop diuretic therapy relieves congestion faster, avoids diuretic resistance, and may shorten hospitalization length. Thiazide-like diuretics remain a good option to break diuretic resistance. Currently, ultrafiltration in AHF remains mainly reserved for patient with an inadequate response to pharmacological treatment.</p><p><strong>Summary: </strong>In most patients with AHF, decongestion can be achieved effectively and safely through combination diuretic therapies. Appropriate diuretic therapy may shorten hospitalization length and improve quality of life, but has not yet proven to reduce death or heart failure readmissions. Ultrafiltration currently has a limited role in AHF, mainly as bail-out strategy, but evidence for a more upfront use remains inconclusive.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139742768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-02-19DOI: 10.1097/HCO.0000000000001125
Gregory R Jackson, Justin Durland, Frank Hoyland
Purpose of review: This review addresses the evolving intersection of sleep-disordered breathing (SDB) and heart failure, a topic of increasing clinical significance due to the high prevalence of SDB in heart failure patients and its impact on morbidity and mortality. It reflects recent advancements in diagnostic methodologies and therapeutic strategies. It emphasizes the need for heightened awareness among healthcare providers about the complex relationship between SDB and various forms of heart failure.
Recent findings: Recent studies underscore the high incidence of SDB in heart failure patients, varying with the cause of heart failure. Emerging diagnostic tools, including home sleep tests and advanced inpatient screening methods, have improved the early detection and accurate diagnosis of SDB. Novel treatment modalities, like hypoglossal and phrenic nerve stimulation, are promising, especially where conventional therapies are inadequate. The review also discusses the complexities of managing SDB in the context of different heart failure subtypes.
Summary: Findings from recent literature suggest that improved screening, diagnosis, and innovative treatment of SDB in heart failure patients can reduce morbidity, mortality, and healthcare costs. This review emphasizes the need for personalized treatment approaches tailored to individual patient profiles, highlighting the potential of new technologies and multidisciplinary strategies in clinical practice.
{"title":"Sleep-disordered breathing in heart failure.","authors":"Gregory R Jackson, Justin Durland, Frank Hoyland","doi":"10.1097/HCO.0000000000001125","DOIUrl":"10.1097/HCO.0000000000001125","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review addresses the evolving intersection of sleep-disordered breathing (SDB) and heart failure, a topic of increasing clinical significance due to the high prevalence of SDB in heart failure patients and its impact on morbidity and mortality. It reflects recent advancements in diagnostic methodologies and therapeutic strategies. It emphasizes the need for heightened awareness among healthcare providers about the complex relationship between SDB and various forms of heart failure.</p><p><strong>Recent findings: </strong>Recent studies underscore the high incidence of SDB in heart failure patients, varying with the cause of heart failure. Emerging diagnostic tools, including home sleep tests and advanced inpatient screening methods, have improved the early detection and accurate diagnosis of SDB. Novel treatment modalities, like hypoglossal and phrenic nerve stimulation, are promising, especially where conventional therapies are inadequate. The review also discusses the complexities of managing SDB in the context of different heart failure subtypes.</p><p><strong>Summary: </strong>Findings from recent literature suggest that improved screening, diagnosis, and innovative treatment of SDB in heart failure patients can reduce morbidity, mortality, and healthcare costs. This review emphasizes the need for personalized treatment approaches tailored to individual patient profiles, highlighting the potential of new technologies and multidisciplinary strategies in clinical practice.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139907005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-02-23DOI: 10.1097/HCO.0000000000001129
Alfred Ngo-Hamilton, Dzhalal Agakishiev, Valmiki Maharaj
Purpose of review: This review synthesizes recent research on the efficacy, optimal design, and delivery methods of cardiac rehabilitation tailored to heart failure patients. Despite established benefits, cardiac rehabilitation referral and access disparities persist, necessitating elucidation of limitations and solutions.
Recent findings: Exercise-based cardiac rehabilitation improves long-term mortality and hospitalization rates but not short-term mortality. cardiac rehabilitation further enhances quality of life and medical therapy adherence. However, cardiac rehabilitation relies on in-person delivery, presenting access barriers exacerbated during COVID-19. Significant geographic disparities exist, with analyses indicating current capacity only serves 45% of eligible US adults even if fully utilized. Referral rates also lag, disproportionately affecting women and minority groups. Research increasingly focuses on home-based and digital therapeutics modalities to expand reach, with evidence demonstrating comparable improvements across settings. Protocols and research center on heart failure with reduced ejection fraction (HFrEF), despite growing heart failure with preserved ejection fraction (HFpEF) prevalence.
Summary: Increasing referrals through standardized procedures and addressing multifactorial geographic, economic, and capacity limitations are imperative to ensure equitable cardiac rehabilitation access. Broadening HFpEF rehabilitation research and care standards also constitutes a critical practice gap requiring alignment with projected epidemiologic shifts. Advancing patient-centered, evidence-based solutions can promote rehabilitation as essential secondary prevention for wider cardiac populations.
{"title":"Cardiac rehabilitation for heart failure: progress and gaps in evidence and policy.","authors":"Alfred Ngo-Hamilton, Dzhalal Agakishiev, Valmiki Maharaj","doi":"10.1097/HCO.0000000000001129","DOIUrl":"10.1097/HCO.0000000000001129","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review synthesizes recent research on the efficacy, optimal design, and delivery methods of cardiac rehabilitation tailored to heart failure patients. Despite established benefits, cardiac rehabilitation referral and access disparities persist, necessitating elucidation of limitations and solutions.</p><p><strong>Recent findings: </strong>Exercise-based cardiac rehabilitation improves long-term mortality and hospitalization rates but not short-term mortality. cardiac rehabilitation further enhances quality of life and medical therapy adherence. However, cardiac rehabilitation relies on in-person delivery, presenting access barriers exacerbated during COVID-19. Significant geographic disparities exist, with analyses indicating current capacity only serves 45% of eligible US adults even if fully utilized. Referral rates also lag, disproportionately affecting women and minority groups. Research increasingly focuses on home-based and digital therapeutics modalities to expand reach, with evidence demonstrating comparable improvements across settings. Protocols and research center on heart failure with reduced ejection fraction (HFrEF), despite growing heart failure with preserved ejection fraction (HFpEF) prevalence.</p><p><strong>Summary: </strong>Increasing referrals through standardized procedures and addressing multifactorial geographic, economic, and capacity limitations are imperative to ensure equitable cardiac rehabilitation access. Broadening HFpEF rehabilitation research and care standards also constitutes a critical practice gap requiring alignment with projected epidemiologic shifts. Advancing patient-centered, evidence-based solutions can promote rehabilitation as essential secondary prevention for wider cardiac populations.</p><p><strong>Video abstract: </strong>http://links.lww.com/HCO/A97.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-02-23DOI: 10.1097/HCO.0000000000001128
Ana Paula Tagliari, Rodrigo Petersen Saadi, Gilbert H L Tang
Purpose of review: This review offers insights into percutaneous mitral valve management, emphasizing pivotal trials that contributed to its evolution.
Recent findings: Mitral regurgitation (MR) is a highly prevalent heart valve disease, with surgical intervention being the gold standard for managing primary MR. However, a notable proportion of patients face ineligibility criteria or are at high surgical risk, particularly in the setting of secondary MR. To fill this gap, transcatheter therapies have emerged as less invasive alternatives. Initially guided by the EVEREST trial criteria, transcatheter leaflet repair techniques have shown impressive technological improvements, addressing nowadays a wide range of anatomical scenarios. Evidence supporting the safety and efficacy of transcatheter leaflet repair is derived from pivotal trials, including EVEREST II, COAPT, MITRA-FR, and CLASP IID, and large multicenter registries including EXPAND, EXPAND G4, and EuroSMR. However, not all patients meet the anatomical and clinical criteria for leaflet repair. For those patients, transcatheter mitral valve replacement may be a minimally invasive option and multiple clinical trials are current underway.
Summary: From MitraClip to newer and more innovative technologies, the landscape of percutaneous mitral valve interventions continues to evolve, offering new hopes to patients who may not be ideal candidates for conventional surgery.
{"title":"A deep dive into the percutaneous mitral valve data.","authors":"Ana Paula Tagliari, Rodrigo Petersen Saadi, Gilbert H L Tang","doi":"10.1097/HCO.0000000000001128","DOIUrl":"10.1097/HCO.0000000000001128","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review offers insights into percutaneous mitral valve management, emphasizing pivotal trials that contributed to its evolution.</p><p><strong>Recent findings: </strong>Mitral regurgitation (MR) is a highly prevalent heart valve disease, with surgical intervention being the gold standard for managing primary MR. However, a notable proportion of patients face ineligibility criteria or are at high surgical risk, particularly in the setting of secondary MR. To fill this gap, transcatheter therapies have emerged as less invasive alternatives. Initially guided by the EVEREST trial criteria, transcatheter leaflet repair techniques have shown impressive technological improvements, addressing nowadays a wide range of anatomical scenarios. Evidence supporting the safety and efficacy of transcatheter leaflet repair is derived from pivotal trials, including EVEREST II, COAPT, MITRA-FR, and CLASP IID, and large multicenter registries including EXPAND, EXPAND G4, and EuroSMR. However, not all patients meet the anatomical and clinical criteria for leaflet repair. For those patients, transcatheter mitral valve replacement may be a minimally invasive option and multiple clinical trials are current underway.</p><p><strong>Summary: </strong>From MitraClip to newer and more innovative technologies, the landscape of percutaneous mitral valve interventions continues to evolve, offering new hopes to patients who may not be ideal candidates for conventional surgery.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-02-21DOI: 10.1097/HCO.0000000000001126
Emanuele Monda, Martina Caiazza, Giuseppe Limongelli
Purpose of review: This review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management.
Recent findings: The identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root dilatation or ectopia lentis, is a major diagnostic criterion for MFS. Understanding genotype-phenotype correlations is useful for determining the timing of follow-up, guiding prophylactic aortic root surgery, and providing more precise information to patients and their family members during genetic counseling. Genetic testing is also relevant in distinguishing MFS from other conditions that present with heritable thoracic aortic diseases, allowing for tailored and individualized management.
Summary: Genetic testing is essential in different steps of the MFS patients' clinical pathway, starting from the phase of diagnosis to management and specific treatment.
{"title":"The role of genetic testing in Marfan syndrome.","authors":"Emanuele Monda, Martina Caiazza, Giuseppe Limongelli","doi":"10.1097/HCO.0000000000001126","DOIUrl":"10.1097/HCO.0000000000001126","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management.</p><p><strong>Recent findings: </strong>The identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root dilatation or ectopia lentis, is a major diagnostic criterion for MFS. Understanding genotype-phenotype correlations is useful for determining the timing of follow-up, guiding prophylactic aortic root surgery, and providing more precise information to patients and their family members during genetic counseling. Genetic testing is also relevant in distinguishing MFS from other conditions that present with heritable thoracic aortic diseases, allowing for tailored and individualized management.</p><p><strong>Summary: </strong>Genetic testing is essential in different steps of the MFS patients' clinical pathway, starting from the phase of diagnosis to management and specific treatment.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-25DOI: 10.1097/HCO.0000000000001151
Jason F Goldberg, Joseph A Spinner, Jonathan H Soslow
PURPOSE While pediatric myocarditis incidence has increased since the coronavirus disease 2019 (COVID-19) pandemic, there remain questions regarding diagnosis, risk stratification, and optimal therapy. This review highlights recent publications and continued unanswered questions related to myocarditis in children. RECENT FINDINGS Emergence from the COVID-19 era has allowed more accurate description of the incidence and prognosis of myocarditis adjacent to COVID-19 infection and vaccine administration as well that of multi-system inflammatory disease in children (MIS-C). As cardiac magnetic resonance technology has shown increased availability and evidence in pediatric myocarditis, it is important to understand conclusions from adult imaging studies and define the use of this imaging biomarker in children. Precision medicine has begun to allow real-time molecular evaluations to help diagnose and risk-stratify cardiovascular diseases, with emerging evidence of these modalities in myocarditis. SUMMARY Recent information regarding COVID-19 associated myocarditis, cardiac magnetic resonance, and molecular biomarkers may help clinicians caring for children with myocarditis and identify needs for future investigations.
{"title":"Myocarditis in children 2024, new themes and continued questions.","authors":"Jason F Goldberg, Joseph A Spinner, Jonathan H Soslow","doi":"10.1097/HCO.0000000000001151","DOIUrl":"https://doi.org/10.1097/HCO.0000000000001151","url":null,"abstract":"PURPOSE\u0000While pediatric myocarditis incidence has increased since the coronavirus disease 2019 (COVID-19) pandemic, there remain questions regarding diagnosis, risk stratification, and optimal therapy. This review highlights recent publications and continued unanswered questions related to myocarditis in children.\u0000\u0000\u0000RECENT FINDINGS\u0000Emergence from the COVID-19 era has allowed more accurate description of the incidence and prognosis of myocarditis adjacent to COVID-19 infection and vaccine administration as well that of multi-system inflammatory disease in children (MIS-C). As cardiac magnetic resonance technology has shown increased availability and evidence in pediatric myocarditis, it is important to understand conclusions from adult imaging studies and define the use of this imaging biomarker in children. Precision medicine has begun to allow real-time molecular evaluations to help diagnose and risk-stratify cardiovascular diseases, with emerging evidence of these modalities in myocarditis.\u0000\u0000\u0000SUMMARY\u0000Recent information regarding COVID-19 associated myocarditis, cardiac magnetic resonance, and molecular biomarkers may help clinicians caring for children with myocarditis and identify needs for future investigations.","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140655113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-22DOI: 10.1097/HCO.0000000000001155
Christopher P Jordan, Akos Berthold, Jason Bonomo
PURPOSE OF REVIEW The incorporation of genetic counseling and testing is essential to evaluation and management of thoracic aortic disease in patients under 60 years of age and those with family histories suspicious for heritable thoracic aortic disease and disorders associated with increased risk for acute type-A aortic dissection. RECENT FINDINGS As many as 20% of individuals with thoracic aortic disease under the age of 60 years have autosomal dominant patterns of inheritance. A considerable number of heritability factors remain undefined for these families. SUMMARY Genetic aortopathy programs require a collaborative approach including cardiovascular specialists and surgeons, medical geneticists, genetic counselors, and allied healthcare professionals. Comprehensive evaluation and management of these patients includes collection of detailed phenotypic data to inform the broader community and identify new associated and causative genes of interest, genetic modifiers, and other risk factors. These programs optimize outcomes and reduce the overall burden in the population of acute aortic dissection and related comorbidities.
{"title":"Genetic aortopathies: a case-based approach to multidisciplinary program development.","authors":"Christopher P Jordan, Akos Berthold, Jason Bonomo","doi":"10.1097/HCO.0000000000001155","DOIUrl":"https://doi.org/10.1097/HCO.0000000000001155","url":null,"abstract":"PURPOSE OF REVIEW\u0000The incorporation of genetic counseling and testing is essential to evaluation and management of thoracic aortic disease in patients under 60 years of age and those with family histories suspicious for heritable thoracic aortic disease and disorders associated with increased risk for acute type-A aortic dissection.\u0000\u0000\u0000RECENT FINDINGS\u0000As many as 20% of individuals with thoracic aortic disease under the age of 60 years have autosomal dominant patterns of inheritance. A considerable number of heritability factors remain undefined for these families.\u0000\u0000\u0000SUMMARY\u0000Genetic aortopathy programs require a collaborative approach including cardiovascular specialists and surgeons, medical geneticists, genetic counselors, and allied healthcare professionals. Comprehensive evaluation and management of these patients includes collection of detailed phenotypic data to inform the broader community and identify new associated and causative genes of interest, genetic modifiers, and other risk factors. These programs optimize outcomes and reduce the overall burden in the population of acute aortic dissection and related comorbidities.","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140672708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}