Key result
A novel heterozygous missense variant, c.4574 C > T (p.Arg1438Cys), in the NOTCH1 gene was identified in a 30-year-old woman with recurrent pregnancy-associated spontaneous coronary artery dissection.
Why the study?
SCAD primarily affects women lacking cardiovascular risk factors, but its genetic pathogenesis remains obscure.
Case Report (n=1)
This case report identifies a novel NOTCH1 missense mutation (p.Arg1438Cys) in a young woman with recurrent pregnancy-associated SCAD, suggesting a potential genetic predisposing factor for artery fragility.
Hypothesis-generating for NOTCH1 variants in recurrent pregnancy-associated SCAD; larger studies needed before clinical adoption.
BACKGROUND: Spontaneous coronary artery dissection (SCAD) is frequently reported as a disorder that primarily affects women without risk factors for cardiovascular disease. Although it has been recognized as one of the genetically mediated vascular disorders, the genetic pathogenesis of SCAD remains obscure to date. CASE PRESENTATION: In this report, we presented a rare case of pregnancy-associated SCAD in a young woman that occurred in multiple coronary arteries within a short period. The initial conservative management and then intravascular ultrasound-guided primary percutaneous coronary intervention (PCI) were adopted to achieve optimal results of revascularization in affected coronary arteries and avoid potential risks for PCI-associated complications. We further performed the whole-exome sequencing and Sanger sequencing and, for the first time, reported a novel heterozygous missense variant, c.4574 C > T (p.Arg1438Cys), in the NOTCH1 gene. This variant has never been documented in the medical literature and was predicted as being potentially damaging or disease-causing variant. CONCLUSIONS: We described a rare case of recurrent SCAD in a young woman after baby delivery. The initial conservative management and PCI with multiple stent implantations were successfully implemented to achieve optimal results of revascularization in coronary arteries. We, for the first time, identified a novel missense variant in the NOTCH1 gene, which appears to be a potential predisposing factor for artery fragility.
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Bai et al. (2020) conducted a case report in Pregnancy-associated spontaneous coronary artery dissection (n=1). NOTCH1 c.4574 C > T (p.Arg1438Cys) variant was evaluated. A novel heterozygous missense variant, c.4574 C > T (p.Arg1438Cys), in the NOTCH1 gene was identified in a 30-year-old woman with recurrent pregnancy-associated spontaneous coronary artery dissection.
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