Report of the National Heart, Lung, and Blood Institute Working Group on Research in Adult Congenital Heart Disease

Williams, Roberta G.; Pearson, Gail D.; Barst, Robyn J.; Child, John S.; Nido, Pedro J. del; Gersony, Welton M.; Kuehl, Karen S.; Landzberg, Michael J.; Myerson, Merle; Neish, Steven R.; Sahn, David J.; Verstappen, Amy; Warnes, Carole A.; Webb, Catherine L.

doi:10.1016/j.jacc.2005.08.074

Cited by 173 publications

(106 citation statements)

References 62 publications

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“…Malformations of the aortic valve are the most common form of congenital cardiac anomaly, accounting for more than half of aortic valve replacement procedures 1, 2. A bicuspid valve is the most common form of congenital aortic valve anomaly, but ≈10% of those with an anomaly leading to the requirement for valve replacement have a unicuspid valve 3.…”

Section: Introductionmentioning

confidence: 99%

“…The natural history of unicuspid aortic valves is poorly understood, because unicuspid anatomic features are difficult to diagnose with most imaging methods, and thus are not differentiated from bicuspid anatomic features until the time of valve surgery or autopsy 4. Clinical manifestations of unicuspid aortic valves may arise during infancy but, more important, often appear only after several decades of life 2, 5. Mechanisms by which patients with clinically silent unicuspid aortic valves progress to overt valvular cardiomyopathy are not well understood, in part because of absence of relevant experimental models.…”

Section: Introductionmentioning

confidence: 99%

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Discovery of an Experimental Model of Unicuspid Aortic Valve

Weiß

Chu

Brooks

et al. 2018

JAHA

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BackgroundThe epithelial growth factor receptor family of tyrosine kinases modulates embryonic formation of semilunar valves. We hypothesized that mice heterozygous for a dominant loss‐of‐function mutation in epithelial growth factor receptor, which are Egfr Vel/+ mice, would develop anomalous aortic valves, valve dysfunction, and valvular cardiomyopathy.Methods and ResultsAortic valves from Egfr Vel/+ mice and control mice were examined by light microscopy at 2.5 to 4 months of age. Additional Egfr Vel/+ and control mice underwent echocardiography at 2.5, 4.5, 8, and 12 months of age, followed by histologic examination. In young mice, microscopy revealed anatomic anomalies in 79% of Egfr Vel/+ aortic valves, which resembled human unicuspid aortic valves. Anomalies were not observed in control mice. At 12 months of age, histologic architecture was grossly distorted in Egfr Vel/+ aortic valves. Echocardiography detected moderate or severe aortic regurgitation, or aortic stenosis was present in 38% of Egfr Vel/+ mice at 2.5 months of age (N=24) and in 74% by 8 months of age. Left ventricular enlargement, hypertrophy, and reversion to a fetal myocardial gene expression program occurred in Egfr Vel/+ mice with aortic valve dysfunction, but not in Egfr Vel/+ mice with near‐normal aortic valve function. Myocardial fibrosis was minimal or absent in all groups.ConclusionsA new mouse model uniquely recapitulates salient functional, structural, and histologic features of human unicuspid aortic valve disease, which are phenotypically distinct from other forms of congenital aortic valve disease. The new model may be useful for elucidating mechanisms by which congenitally anomalous aortic valves become critically dysfunctional.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Discovery of an Experimental Model of Unicuspid Aortic Valve

Weiß

Chu

Brooks

et al. 2018

JAHA

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“…Palliative or corrective interventions are now available for nearly every type of congenital cardiac lesion, and approximately 90% of affected children now survive to adulthood [1]. Adults with CHD (ACHD) already outnumber pediatric CHD patients, and this population is expected to grow by 5% per year [1,2]. Strikingly, the median age of severe CHD patients has increased from 11 years in 1985 to 25 years in 2010 [3].…”

Section: Introductionmentioning

confidence: 99%

“…Advances in the diagnosis and management of congenital heart disease (CHD) over the past several decades have greatly improved longevity and quality of life in the CHD population. Palliative or corrective interventions are now available for nearly every type of congenital cardiac lesion, and approximately 90% of affected children now survive to adulthood [1]. Adults with CHD (ACHD) already outnumber pediatric CHD patients, and this population is expected to grow by 5% per year [1,2].…”

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confidence: 99%

Extra-cardiac manifestations of adult congenital heart disease

Gaeta

Ward

Krasuski

2016

Trends in Cardiovascular Medicine

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a b s t r a c tAdvancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations.Key words: Cardiovascular disease, Adult congenital heart disease, Pulmonary hypertension. Advances in the diagnosis and management of congenital heart disease (CHD) over the past several decades have greatly improved longevity and quality of life in the CHD population. Palliative or corrective interventions are now available for nearly every type of congenital cardiac lesion, and approximately 90% of affected children now survive to adulthood [1]. Adults with CHD (ACHD) already outnumber pediatric CHD patients, and this population is expected to grow by 5% per year [1,2]. Strikingly, the median age of severe CHD patients has increased from 11 years in 1985 to 25 years in 2010 [3]. Continued improvement in CHD interventions means that new (and more complex) populations will likely reach adulthood in the coming years.Practitioners who take care of adults with CHD are often charged with the delivery or coordination of comprehensive care for these complex patients, including the management of manifestations and complications that arise later in life. ACHD has many extra-cardiac effects, both as syndromic associations with congenital heart defects, or more commonly, as sequelae of primary structural or hemodynamic abnormalities. The role of genetic predilection remains undefined for nearly all extra-cardiac complications, though their incidence has clearly risen over the past decades. Indeed, more than a third of hospital admissions for ACHD patients are now for noncardiovascular reasons [4]. Optimal care of ACHD patients, therefore, mandates a thorough understanding of its multiorgan system manifestations. Herein, we will review current understanding of the most common manifestations of ACHD organized by the affected organ systems. Neurologic/neuropsychiatric Cerebrovascular complicationsA recent study quantified the strikingly high rates of stroke in ACHD [5]. Among nearly 30,000 ACHD patients, 8.9% of men http://dx

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“…Nel 2004, i ricercatori del National Heart, Lung, and Blood Institute (NHLBI), si sono riuniti per cercare di capire le interazioni rene-cuore, creando il Working Group on Cardio-Renal Connections in Heart Failure and Cardiovascular Disease (3). Il gruppo di studio definiva la "sindrome cardio-renale" (CRS), come la situazione nella quale la terapia per alleviare i sintomi congestivi dell'insufficienza cardiaca cronica (Chronic Heart Failure, CHF) è ulteriormente limitata dal declino della funzione renale.…”

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The Cardiorenal Anemia Syndrome. Part One: Epidemiology and Clinical Aspects

Rivera

Alibrandi

Lullo³

et al. 2017

Giornale di Tecniche Nefrologiche e Dialitiche

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The cardiorenal anemia syndrome. Part one: epidemiology and clinical aspects Anemia is a common complication associated with congestive heart failure (CHF) and chronic kidney disease (CKD), and is often reported as a component of the cardiorenal syndrome (CRS). The triad anemia, CHF and CKD has adverse prognostic implications that have led to the reformulation of the syndrome with the term "cardiorenal anemia syndrome" (CRAS). However, there is insufficient agreement about the definition of anemia in the CHF patient, probably due to the heterogeneity of the clinical criteria and the diversity of the patient populations in different studies. The evolution of drug therapy and technology (such as resynchronization of the left ventricle) has not stopped the increase in its incidence nor the associated health system costs. Unfortunately, the current guidelines do not provide specific recommendations for the adequate management of anemia in the cardiorenal patient. The pathophysiological mechanisms at the origin of anemia in CRS are complex and numerous. On the cardiovascular side the most important mechanisms are activation of the sympathetic and renin-angiotensin-aldosterone systems, antidiuretic hormone, and hemodilution, while those associated with CKD include reduction of the endogenous production of erythropoietin, chronic microinflammation, and iron deficiency. Consequently, anemia could represent a new clinical and therapeutic biomarker in CRS. A more comprehensive, 360-degree view, which stratifies the etiological, clinical and pathophysiological aspects, could significantly contribute to improving the prognosis of CRS patients. Keywords: Cardiorenal anemia syndrome (CRAS), Chronic kidney disease (CKD), Congestive heart failure (CHF) Nonostante i diversi specialisti conoscessero molto bene questo problema dal proprio punto di vista, l'approccio multidisciplinare trova sensibili limitazioni principalmente sul piano semantico (1, 2). Per minimizzare tali ostacoli, si rendeva sempre più imperativa la necessità di parlare un linguaggio comune mediante l'adozione di una nuova classificazione che tenesse conto degli aspetti eziologici, fisiopatologici e clinici. La classificazione doveva inoltre distinguere l'incipit e le sequele cliniche della sindrome, differenziare l'organo primariamente coinvolto da quello secondariamente danneggiato, e infine definire la sequenza temporale dell'insorgenza del fenomeno: acuzie o cronicità.Nel 2004, i ricercatori del National Heart, Lung, and Blood Institute (NHLBI), si sono riuniti per cercare di capire le interazioni rene-cuore, creando il Working Group on Cardio-Renal Connections in Heart Failure and Cardiovascular Disease (3). Il gruppo di studio definiva la "sindrome cardio-renale" (CRS), come la situazione nella quale la terapia per alleviare i sintomi congestivi dell'insufficienza cardiaca cronica (Chronic Heart Failure, CHF) è ulteriormente limitata dal declino della funzione renale. Tuttavia, l'assenza di una definizione chiara e la Introduzione L'interazione esistente ...

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Report of the National Heart, Lung, and Blood Institute Working Group on Research in Adult Congenital Heart Disease

Cited by 173 publications

References 62 publications

Discovery of an Experimental Model of Unicuspid Aortic Valve

Discovery of an Experimental Model of Unicuspid Aortic Valve

Extra-cardiac manifestations of adult congenital heart disease

The Cardiorenal Anemia Syndrome. Part One: Epidemiology and Clinical Aspects

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