Table 1 The index patient’s and the family’s medical diagnosis and interventions
| Â | Relevant Past Medical History and Interventions | ||||
|---|---|---|---|---|---|
| Â | No past medical history reported by the index patient whose symptoms and diagnosis were initiated in 2005 | ||||
Dates | Study Project | Sequence Variants | Summaries from Initial and Follow-up Visits | Diagnostic Testing | Interventions |
2005 | Index patient | MYH11:c.3234C > G, p.Ile1078Met ACTA2:c.363_367delGAGTC, p.Met121Ilefs*5 | Hyper-acute onset chest and back pain | Echocardiography and CT Chest | Bentall procedure |
2016 | Â | Â | Follow-up visit | Echocardiogram | No further intervention as no significant change found |
2017 | Â | Â | Counseling visit | Genetic testing | Novel variants detected in ACTA2 and MYH11 genes |
2012 | Father | MYH11:c.3234C > G, p.Ile1078Met | Asymptomatic | Echocardiography and CT Chest coronary angiography | Bentall procedure |
2015 | Â | Â | Follow-up visit | Henoch-Schonlein purpura in low extremities, Kidney failure | Hemodialysis |
2017 | Â | Â | Follow-up visit | Echocardiogram | No further intervention recommended |
2017 | Â | Â | Counseling visit | Genetic testing | Novel variant detected in MYH11 gene |
2012 | Mother | ACTA2:c.363_367delGAGTC, p.Met121Ilefs*5 | Asymptomatic | Echocardiogram | Ascending aortic dilatation |
2015 | Â | Â | Follow-up visit | Echocardiogram | No significant change found |
2017 | Â | Â | Counseling visit | Genetic testing | Novel variant detected in ACTA2 gene |
2005 | Sister #1 | MYH11:c.3234C > G, p.Ile1078Met ACTA2:c.363_367delGAGTC, p.Met121Ilefs*5 | Asymptomatic | Echocardiogram | Normal aortic size |
2012 | Â | Â | Follow-up visit | Echocardiogram | Normal aortic size |
2017 | Â | Â | Counseling visit | Genetic testing | Novel variants detected in ACTA2 and MYH11 genes |
2017 | Â | Â | Follow-up visit | Echocardiography | Mild dilation of the ascending aorta |
2005 | Sister #2 | Â | Asymptomatic | Echocardiogram | Normal aortic size |
2012 | Â | Â | Follow-up visit | Echocardiogram | Normal aortic size |
2017 | Â | Â | Counseling visit | Genetic testing | No novel variants detected in ACTA2 and MYH11 genes |