- Coronary artery dissection (HP:0006702): Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. Evidence: PCS. Frequency: 1/31. (PMID:23910461)
- Abdominal aortic aneurysm (HP:0005112): An abnormal localized widening (dilatation) of the abdominal aorta. Evidence: PCS. Frequency: 12/37. (PMID:23910461)
- Coronary artery aneurysm (HP:0030882): Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. Evidence: PCS. Frequency: 1/31. (PMID:23910461)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:23910461)
- Descending aortic dissection (HP:0012499): A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. Evidence: PCS. Frequency: 6/31. (PMID:23910461)
- Ascending aortic dissection (HP:0004933): A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. Evidence: PCS. Frequency: 11/31. (PMID:23910461)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:23910461)
These phenotypes are associated with the disease aortic aneurysm, familial thoracic 8 (OMIM:615436).