BackgroundAcute Stanford type A aortic dissection (ATAAD) is a life-threatening disease. Elderly patients are the high-risk population for aortic dissection (AD). Young patients with AD usually have heritable connective tissue diseases such as Marfan syndrome and Loeys-Dietz syndrome. However, young AD patients without heritable connective tissue disease are relatively rare.Case presentationHerein, we report a case of a 25-year-old female diagnosed with ATAAD accompanied by undeveloped secondary sexual characteristics. Computed tomography angiography (CTA) showed that her AD involved the ascending and abdominal aorta. She had undergone thoracic endovascular aortic stent graft implantation in a local hospital due to acute Stanford type B aortic dissection at age 19. No uterus or ovaries were found on CTA and transabdominal ultrasonography. Sex hormone detection revealed a low estrogen level. G-banded karyotyping analyses revealed a normal 46,XX karyotype. Finally, her abnormalities in the reproductive system were diagnosed as MRKH syndrome and 46,XX gonadal dysgenesis. Whole-exome sequencing (WES) in the patient found an SNP variant of ACTA2 c.773G>A and MYH11 c.5081A>G. MYH11 c.5081A>G was also found in her mother and younger brother. Copy number variations sequencing (CNV-seq) found an approximately 109.30 Kb duplication at chromosome 6p22.3 (Chr 6: g.24920238–25029535) with a copy number of 3. We performed emergent total aortic arch replacement with frozen elephant trunk surgery, and the patient recovered well after surgery. However, her abdominal AD was stilling progression during 6 months of follow-up.ConclusionTo our knowledge, we report the world's first case of early-onset recurrent AD combined with MRKH syndrome and 46,XX gonadal dysgenesis.

Acute aortic dissection (AAD) is a cardiovascular disease that manifests suddenly and fatally. Due to the lack of specific early symptoms, many patients with AAD are often overlooked or misdiagnosed, which is undoubtedly catastrophic for patients. The particular pathogenic mechanism of AAD is yet unknown, which makes clinical pharmacological therapy extremely difficult. Therefore, it is necessary and crucial to find and employ unique biomarkers for Acute aortic dissection (AAD) as soon as possible in clinical practice and research. This will aid in the early detection of AAD and give clear guidelines for the creation of focused treatment agents. This goal has been made attainable over the past 20 years by the quick advancement of omics technologies and the development of high-throughput tissue specimen biomarker screening. The primary histology data support and add to one another to create a more thorough and three-dimensional picture of the disease. Based on the introduction of the main histology technologies, in this review, we summarize the current situation and most recent developments in the application of multi-omics technologies to AAD biomarker discovery and emphasize the significance of concentrating on integration concepts for integrating multi-omics data. In this context, we seek to offer fresh concepts and recommendations for fundamental investigation, perspective innovation, and therapeutic development in AAD.