Kassem Safwan

DOI: https://doi.org/10.15277/bjd.2025.494 Keywords: paradoxical embolism, acute limb ischaemia, atrial septal defect, type 2 diabetes References Dao CN, Tobis JM. PFO and paradoxical embolism producing events other than stroke. Catheter Cardiovasc Interv Off J Soc Card Angiogr Interv [Internet] 2011;77(6):903-09.

Discussion In this study, we present results of NOTCH1 sequencing of 8 pedigrees with familial BAV and 381 patients with sporadic BAV as well as results of a systematic review of NOTCH1 sequencing in 528 pedigrees with familial congenital cardiac lesions and 9449 sporadic cases of congenital heart disease. The main finding from our study is that the pathogenic and likely pathogenic NOTCH1 genetic variants explain only a small proportion of familial (2%) and sporadic (<0.10%) BAV disease.

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions http://orcid.org/0000-0003-2292-467XRadoslaw Marek Debiec1,2, Stephen E Hamby1, Peter D Jones1, Kassem Safwan3, Michael Sosin4, Simon Lee Hetherington5, David Sprigings6, David Sharman6, Kelvin Lee7, Pegah Salahshouri8, Nigel Wheeldon9, Andrew Chukwuemeka10, Vasiliki Boutziouka1, Mohamed Elamin11, Sue Coolman1, Manish Asiani1, Shireen Kharodia1, Gregory J Skinner2, Nilesh J Samani1, Tom R Webb1,...