ArticleInternational journal of cardiology. Congenital heart disease2024
Discovery of myosin light chain kinase gene variant in a patient with tetralogy of Fallot suffering aortic dissection: Implications for pathogenesis and the role of family and population screening.
Article in International journal of cardiology. Congenital heart disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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14 authors.
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Abstract
Background: Thoracic aortic dissection (TAD) is an uncommon complication in patients with Tetralogy of Fallot (TOF). Information concerning risk factors for TAD in patients with TOF is very limited. Methods: We report a case of Stanford type A TAD in a female patient with previously repaired TOF. Whole exome sequencing (WES); Novogene UK, Agilent V6 capture kit, Illumina HiSeq 100x depth) was performed to identify genetic variants in genes known to be associated with TAD. A systematic literature review was performed in the NCBI PubMed database to identify case reports of TAD in patients with TOF. Results: The patient was a 31-year-old female who developed Stanford type A aortic dissection having had TOF repair at the age of four years. The thoracic aorta was only minimally dilated (sinus of Valsalva 43 mm) on clinical review 16 months prior to TAD. Of note the patient had completed pregnancy 5 months prior to the dissection. There were no other high-risk features predisposing to TAD. WES identified rare genetic variant in a gene previously associated with TAD: Conclusions: The presence of a rare genetic variant in
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