Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?

Kerstjens-Frederikse, Wilhelmina S.; Sarvaas, Gideon J. du Marchie; Ruiter, Jolien S.; Akker, Peter C. van den; Temmerman, Arno M.; Melle, Joost P. van; Hofstra, Robert; Berger, Rolf M. F.

doi:10.1136/hrt.2010.211433

Cited by 57 publications

(47 citation statements)

References 48 publications

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“…Studies of firstdegree relatives of patients with leftventricular outflow tract obstructive (LVOTO) malformations show that up to 18% of first-degree relatives are also affected by LVOTO malformations. 3,4 The consensus American College of Cardiology and American Heart Association Guidelines for Management of Patients With Valvar Heart Disease recommend routine screening of firstdegree relatives. 5 This recommendation is based on the premise that early detection of BAV may allow timely recognition of complications such as progressive aortic dilation.…”

Section: Discussionmentioning

confidence: 99%

Echocardiography Screening of Siblings of Children With Bicuspid Aortic Valve

Hales

Mahle

2014

Pediatrics

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BACKGROUND AND OBJECTIVE: Left heart defects, such as bicuspid aortic valve (BAV), are heritable. Consensus guidelines have recommended echocardiographic screening of first-degree relatives. The utility of this approach in siblings of children with BAV is not known. The objective of this study is to evaluate the yield of routine screening of siblings of children with BAV and undertake an economic analysis of this practice. METHODS: Siblings of children with BAV who underwent echocardiographic screening in a single pediatric cardiology practice were identified. The anatomic features and hemodynamics of siblings newly diagnosed with BAV were recorded. A Markov model was constructed to determine cost-effectiveness ratios, and sensitivity analyses were performed. RESULTS: There were 207 screened siblings of 181 children with BAV. The median age at screening was 7 years. BAV was identified in 21 (10.1%) of siblings screened. The median peak Doppler gradient was 18 mm Hg. Aortic insufficiency was mild or less in all. The mean cost to diagnose BAV in a sibling was $2109 per new case found. The estimated mean cost to avert a single aortic dissection in the third or fourth decade of life was $363 911. The estimated cost per life-year saved was $74 884 and ranged from $17 461 to $1 136 536 in sensitivity analysis. CONCLUSIONS: Echo screening among siblings of those with BAV is effective and inexpensive and may lower the risk of the complications of such as dissection, although it comes at a moderate cost relative to benefits gained. Screening of siblings should be incorporated into clinical care.

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Section: Discussionmentioning

confidence: 99%

Echocardiography Screening of Siblings of Children With Bicuspid Aortic Valve

Hales

Mahle

2014

Pediatrics

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“…41 In addition, 20% of pediatric patients with a left ventricular outflow tract obstruction have (an) affected first-degree relative(s), frequently a previously undetected BAV further illustrating a strong genetic contribution to the origin of BAV. 42 However, to date, a genetic cause has been identified in only a minority of BAV families, mostly showing an autosomal dominant inheritance pattern with reduced penetrance. In 2005 NOTCH1 mutations were reported to be involved in a spectrum of developmental aortic valve anomalies, including BAV and severe aortic valve calcification.…”

Section: Bicuspid Aortic Valve: Clinical and Genetic Aspectsmentioning

confidence: 99%

“…The results of these studies are summarized in Table 1. 26,28,41,42,54,61,[65][66][67][68][69] In 5.8-47.7% of the families BAV was shown to be familial (defined as BAV diagnosed in at least one first degree relative of the index patient). Of the screened first-degree relatives of BAV patients 1.8-11% was found to be affected with BAV.…”

Section: Bicuspid Aortic Valve: Clinical and Genetic Aspectsmentioning

confidence: 99%

Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature

et al. 2015

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Bicuspid aortic valve (BAV) is the most common congenital cardiac defect causing serious morbidity including valvular dysfunction and thoracic aortic aneurysms (TAA) in around 30% of BAV patients. Cardiological screening of first-degree relatives is advised in recent guidelines given the observed familial clustering of BAV. However, guidelines regarding screening of family members and DNA testing are not unequivocal. The aim of this review is to provide an overview of the literature on echocardiographic screening in first-degree relatives of BAV patients and to propose a model for family screening. In addition, we provide a flowchart for DNA testing. We performed a PubMed search and included studies providing data on echocardiographic screening in asymptomatic relatives of BAV patients. Nine studies were included. In 5.8-47.4% of the families BAV was shown to be familial. Of the screened first-degree relatives 1.8-11% was found to be affected with BAV. Results regarding a potential risk of TAA in first-degree relatives with a tricuspid aortic valve (TAV) were conflicting. The reported familial clustering of BAV underlines the importance of cardiological screening in relatives. After reviewing the available family history, patient characteristics and the results of cardiological screening in relatives, follow-up in relatives with a TAV and/or DNA testing may be advised in a subset of families. In this study we propose a model for the clinical and genetic work-up in BAV families, based on the most extensive literature review on family screening performed until now.

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“…For example, malformations of the left side of the heart, including bicuspid aortic valve, aortic coarctation, and hypoplastic left heart syndrome, are known to be highly heritable, with a CHD prevalence of ≈20% or higher among affected first-degree relatives. 23,24 Accordingly, echocardiographic screening of first-degree relatives of patients with left-sided defects has been recommended in the 2008 American Heart Association/American College of Cardiology "2008 Guidelines for the Management of Adults With Congenital Heart Disease." Table 4).…”

Section: Congenital Heart Defectsmentioning

confidence: 99%

Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association

Mital¹,

Musunuru²,

Garg³

et al. 2016

Circ Cardiovasc Genet

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Abstract-Advances in genomics are enhancing our understanding of the genetic basis of cardiovascular diseases, both congenital and acquired, and stroke. These advances include finding genes that cause or increase the risk for childhood and adult-onset diseases, finding genes that influence how patients respond to medications, and the development of genetics-guided therapies for diseases. However, the ability of cardiovascular and stroke clinicians to fully understand and apply this knowledge to the care of their patients has lagged. This statement addresses what the specialist caring for patients with cardiovascular diseases and stroke should know about genetics; how they can gain this knowledge; how they can keep up-to-date with advances in genetics, genomics, and pharmacogenetics; and how they can apply this knowledge to improve the care of patients and families with cardiovascular diseases and stroke. (Circ Cardiovasc Genet. 2016;9:448-467.

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Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?

Abstract: Objectives To determine whether offering cardiac screening to relatives of patients with left ventricular outflow tract obstructions (LVOTOs) would be justified.

Cited by 57 publications

References 48 publications

Echocardiography Screening of Siblings of Children With Bicuspid Aortic Valve

Echocardiography Screening of Siblings of Children With Bicuspid Aortic Valve

Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature

Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association

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