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Gene test detects mutations responsible for thoracic aortic aneurysms
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Researchers were able to use genetic screening to identify mutations responsible for thoracic aortic aneurysms in a recent study.
The screening “provides information that enables genetically personalized care and permits identification of novel mutations responsible for aortic pathology,” they wrote.
From March 2012 to December 2014, the researchers applied whole-exome sequencing to 102 patients (mean age, 56.8 years; 68.6% men) with thoracic aortic aneurysm and dissection.
“To our knowledge, it’s the first widespread application of this technology to this disease,” John A. Elefteriades, MD, director of the Aortic Institute at Yale, said in a press release.
Elefteriades and colleagues tested a 21-gene panel by whole-exome sequencing in the cohort. They found that 72.5% of patients had no relevant genetic alterations, but that 3.9% had a known deleterious mutation in the FBN1, COL5A1, MYLK and FLNA genes.
They also found that 21.6% had a suspicious variant in at least one of the following genes: FBN1 (n = 5), MYH11 (n = 4), ACTA2 (n = 2), COL1A1 (n = 2), COL3A1 (n = 2), COL5A1 (n = 1), COL5A2 (n = 1), FLNA (n = 1), NOTCH1 (n = 1), PRKG1 (n = 1), TGFBR1 (n = 2) and TGFBR3 (n = 1). These variants had previously been unreported, they wrote.
“This experience permitted personalized aneurysm management based on the genetic findings,” the researchers wrote. “Specifically, among patients found to harbor a mutation prone to dissect without a severe aneurysmal dilatation (ACTA2, MYLK, Loeys-Dietz), a policy of more frequent imaging and earlier prophylactic surgery was applied.”
The researchers also offered testing to family members of the patients and identified mutations in relatives with no clinical indications of thoracic aortic aneurysm, according to the release.
Elefteriades said in the release that his team expects to find more mutations as time goes on. “In a few years, we’re going to have discovered many new genes and be able to offer personalized care to an even greater percentage of aneurysm patients,” he said. – by Erik Swain
Disclosure: Initiation of the whole-exome sequencing program was sponsored by a research grant from Medtronic.
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