BackgroundThe purpose of our study was to investigate the potential contribution of germline mutations in NOTCH1, GATA5 and TGFBR1 and TGFBR2 genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV).MethodsAll the coding exons including adjacent intronic as well as 5′ and 3′ untranslated (UTR) sequences of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes were screened by direct gene sequencing in 11 index patients (8 males; age = 42 ± 19 years) with familial BAV defined as two or more affected members.ResultsTwo novel mutations, a missense and a nonsense mutation (Exon 5, p.P284L; Exon 26, p.Y1619X), were found in the NOTCH1 gene in two unrelated families. The mutations segregated with the disease in these families, and they were not found on 200 unrelated chromosomes from ethnically matched controls. No pathogenetic mutation was identified in GATA5, TGFBR1 and TGFBR2 genes.ConclusionsTwo novel NOTCH1 mutations were identified in two Italian families with BAV, highlighting the role of a NOTCH1 signaling pathway in BAV and its aortic complications. These findings are of relevance for genetic counseling and clinical care of families presenting with BAV. Future studies are needed in order to unravel the still largely unknown genetics of BAV.

Background: 3D printing represents an emerging technology in the field of cardiovascular medicine. 3D printing can help to perform a better analysis of complex anatomies to optimize intervention planning. Methods: A systematic review was performed to illustrate the 3D printing technology and to describe the workflow to obtain 3D printed models from patient-specific images. Examples from our laboratory of the benefit of 3D printing in planning interventions were also reported. Results: 3D printing technique is reliable when applied to high-quality 3D image data (CTA, CMR, 3D echography) but it still need the involvement of expert operators for image segmentation and mesh refinement. 3D printed models could be useful in interventional planning, although prospective studies with comprehensive and clinically meaningful endpoints are required to demonstrate the clinical utility. Conclusion: 3D printing can be used to improve anatomy understanding and surgical planning.

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Aorto-pulmonary collaterals (APCs) are frequent in patients with uni-ventricular heart. Their clinical significance remains controversial. Quantitative assessment of APCs blood flow using cardiac magnetic resonance (CMR) have been already validated.

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