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An Approach to Point-Of-Care Ultrasound Evaluation of the Abdominal Aorta
Published on: September 8, 2023
[Familial aortic dissection; cases involving a father, mother, and son]
K Horike1, M Kanoh, A Kurushima
1Department of Cardiovascular Surgery, National Zentsuji Hospital, Zentsuji, Japan.
Insights
Familial aortic dissection, rare outside Marfan syndrome, occurred in a three-generation family. This case highlights the need for further research into genetic aortic dissection mechanisms.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Medical Case Reports
Background:
- Familial occurrence of aortic dissection is uncommon, particularly when not associated with Marfan syndrome.
- Understanding the genetic basis of aortic dissection is crucial for identifying at-risk individuals and families.
Observation:
- A family presented with three cases of acute aortic dissection (Stanford type A): the father (79), mother (73), and son (48).
- The father and son underwent successful surgical repair of the ascending aorta and aortic arch.
- The mother experienced aortic rupture and cardiac arrest during transfer, succumbing despite resuscitation efforts.
Findings:
- This report details a rare instance of familial aortic dissection affecting a parent-offspring trio.
- The cases underscore the potential for non-syndromic hereditary factors contributing to aortic dissection.
- Successful surgical interventions were performed on two family members, while one experienced a fatal rupture.
Implications:
- Further investigation into the genetic underpinnings of aortic dissection is warranted.
- Early identification and genetic counseling may be beneficial for families with a history of aortic dissection.
- This case series contributes to the understanding of rare aortic dissection etiologies beyond known genetic syndromes.
Abstract:
The occurrence of familial aortic dissection is rare in cases that are not linked to Marfan syndrome. We report the 3 cases of acute aortic dissection, involving both parents and their son. Case 1 (father case): 79-year-old male visited a nearby doctor complaining of severe chest and back pain. He was diagnosed as acute aortic dissection (Stanford type A). An emergency operation was carried out and he had an artificial vascular replacement of ascending aorta and arch portion. Case 2 (mother case): 73-year-old female was treated for hypertension. Suddenly, she had a terrible epigastralgia and back pain. The contrast enhanced chest computed tomography (CT) revealed an acute aortic dissection (Stanford type A). The ascending aortic aneurysm ruptured in the ambulance while she was transferred to our hospital. She arrived at our hospital after cardiac and respiratory arrest. We attempted to perform cardiac massage, but we could not bring her back to life. Case 3 (son case): 48-year-old male was transferred to our hospital diagnosed with acute aortic dissection (Stanford type A). The ascending aorta replacement was performed on the same day. We were able to save cases 1 and 3 by performing surgery. Aortic dissection is thought to be the disease of medial degeneration. Hereditary links to aortic dissection are not well understood, with the exception of Marfan syndrome cases. The investigation of genetic mechanisms related to aortic dissection will be expected in the future.
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