Aortic Dissection: A Fatal Condition With an Underrepresented Genetic Risk

Although aortic dissection is among the most common and frequent acute aortic diseases, much regarding this lethal disease is unknown. Additionally, despite a relatively easy method of identification via screening and genetic testing, the majority of aortic dissections go unreported due to a lack of autopsy data in much of the US. For this reason, the majority of patients at risk for aortic dissection are unaware of the condition.

In an interview with Benjamin van Boxtel, MD, the surgical director at Atlantic Aortic Center and a cardiac surgeon with the Atlantic Health System, the HCPLive editorial team discussed proper treatment and diagnosis of this devastating disease, particularly in the face of its little-known genetic roots.

“I have many, many patients in my practice who have a heritable aortic condition where they have an aortic dissection, or they have elective surgery to prevent an aortic dissection,” van Boxtel told HCPLive in an exclusive interview. “If you go through their family history, it’s, ‘well, you know, my dad died of heart problems early and never got an autopsy. My grandpa died of heart problems early and never got an autopsy.’ Well, those are probably uncounted aortic dissections.”

What is aortic dissection?

Aortic dissection is a process in which a tear in the inner lining of the aorta leads to the separation of the intima-medial aortic laminas from the adventitia. This directly leads to the formation of an additional aortic lumen within the existing lumen. An aortic dissection in the ascending aorta is known as Type A dissection, regardless of the involvement of the aortic arch and descending aorta. Dissections involving the aortic arch but not the ascending aorta are known as non-A non-B aortic dissection, while those involving only the descending aorta are a Type B dissection.1

Invasive treatment generally involves the elimination of the most proximal communication between both lumens, which is typically the primary entry. Clinicians use 3 strategies to accomplish this, including resecting the respective aortic segment and replacing it with a prosthesis, thoracic endovascular aortic repair (TEVAR) and stent-graft implantation, and implanting a hybrid prosthesis.1

Guidelines for Treatment

According to the American Heart Association (AHA)/American College of Cardiology (ACC) guidelines for the treatment of aortic disease, the primary goals of any aortic dissection treatment are to prevent aortic rupture, retrograde extension of the dissection into the aortic root, and antegrade propagation of the dissection into yet undissected distal segments. To this end, the majority of treatment strategies are guided by the patient’s signs and symptoms, the presence of complications and the specific features of the aortic and branch vessel anatomy.2

Additionally, the guidelines suggest that choice of initial imaging modality should be determined by the patient’s history and clinical presentation. CT scans have become the preferred modality, due to their capacity for diagnosing the underlying AAS as well as showing the full extent of the dissection. However, patients with a history of iodinated contrast reaction, for whom CT may not be preferred or possible, echocardiography is a common alternative, due to its high sensitivity and anatomic resolution.2

“The thing to remember with aortic dissections is that they’re highly lethal,” van Boxtel said. “These should be thought of like a myocardial infarction or a stroke. There’s a golden hour for these patients. If you look at the risk of death from a dissection, it’s several percentage points per hour. It’s at least 1% per hour. So, the time matters.”

Editors’ Note: van Boxtel reports no relevant disclosures.

References

1. Rylski B, Schilling O, Czerny M. Acute aortic dissection: Evidence, uncertainties, and future therapies. European Heart Journal. 2022;44(10):813-821. doi:10.1093/eurheartj/ehac757

2. Isselbacher EM, Preventza O, Hamilton Black J, et al. 2022 ACC/AHA guideline for the diagnosis and management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022;146(24). doi:10.1161/cir.0000000000001106