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Diseases 2017, 5(4), 29; https://doi.org/10.3390/diseases5040029

Familial Screening for Left-Sided Congenital Heart Disease: What Is the Evidence? What Is the Cost?

Division of Pediatric Cardiothoracic Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA
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Received: 7 November 2017 / Revised: 3 December 2017 / Accepted: 5 December 2017 / Published: 8 December 2017
(This article belongs to the Special Issue Pediatric Diseases)
Full-Text   |   PDF [209 KB, uploaded 8 December 2017]

Abstract

Since the American Heart Association’s recommendation for familial screening of adults with congenital heart disease for bicuspid aortic valve, similar recommendations for other left-sided heart defects, such as hypoplastic left heart syndrome (HLHS), have been proposed. However, defining at-risk populations for these heart defects based on genetics is less straightforward due to the wide variability of inheritance patterns and non-genetic influences such as environmental and lifestyle factors. We discuss whether there is sufficient evidence to standardize echocardiographic screening for first-degree relatives of children diagnosed with HLHS. Due to variations in the inclusion of cardiac anomalies linked to HLHS and the identification of asymptomatic individuals with cardiac malformations, published studies are open to interpretation. We conclude that familial aggregation of obstructive left-sided congenital heart lesions in families with history of HLHS is not supported and recommend that additional screening should adopt a more conservative definition of what truly constitutes this heart defect. More thorough consideration is needed before embracing familial screening recommendations of families of patients with HLHS, since this could inflict serious costs on healthcare infrastructure and further burden affected families both emotionally and financially. View Full-Text
Keywords: familial screening; congenital heart disease; hypoplastic left heart disease; cost-effectiveness; bicuspid aortic valve; familial aggregation familial screening; congenital heart disease; hypoplastic left heart disease; cost-effectiveness; bicuspid aortic valve; familial aggregation
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
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Perry, D.J.; Mullen, C.R.; Carvajal, H.G.; Brar, A.K.; Eghtesady, P. Familial Screening for Left-Sided Congenital Heart Disease: What Is the Evidence? What Is the Cost? Diseases 2017, 5, 29.

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