Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome

Loeys Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder resulting from a mutation in the transforming growth factor beta receptor (TGFBR) family of genes. It is commonly associated with the development of aortic aneurysms and dissections. We report the successful open surgical management of thoracoabdominal aneurysms in a father and daughter with Loeys-Dietz Syndrome after failed endovascular repair. The daughter required stent graft explantation, while the stent graft remained in the father. These cases highlight the importance of early genetic testing of both patients and first-degree family members in those with a strong history of aortic disease, even when there is a lack of typical connective tissue disorder associated physical exam findings and open surgical index operations.

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Publication Details

Journal
Vascular and Endovascular Surgery
Published
2024-08-29
DOI
https://doi.org/10.1177/15385744241279139
Primary Topic
Aortic aneurysm repair treatments
Type
article
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article

Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome

Christopher Pritting, Babak Abai, Michael Nooromid, Joshua Chen et al.
Vascular and Endovascular Surgery
Aortic aneurysm repair treatments
article

Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome

Christopher Pritting, Babak Abai, Michael Nooromid, Joshua Chen, Vishal N. Shah, Konstadinos A. Plestis
article en

Abstract

Loeys Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder resulting from a mutation in the transforming growth factor beta receptor (TGFBR) family of genes. It is commonly associated with the development of aortic aneurysms and dissections. We report the successful open surgical management of thoracoabdominal aneurysms in a father and daughter with Loeys-Dietz Syndrome after failed endovascular repair. The daughter required stent graft explantation, while the stent graft remained in the father. These cases highlight the importance of early genetic testing of both patients and first-degree family members in those with a strong history of aortic disease, even when there is a lack of typical connective tissue disorder associated physical exam findings and open surgical index operations.

Vascular and Endovascular SurgeryVol. 59(1)
Thomas Jefferson University (US)
Good health and well-being
Openalex Percentile: Top 75%
Aortic aneurysm repair treatments
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Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome — Christopher Pritting, Babak Abai, et al. · Vascular and Endovascular Surgery (2024) | TGRS Research Map | TGRS