In the Literature - Three Studies
1.) Unexpected Contained Rupture of a Ductus Arteriosus Aneurysm Found at Surgical Repair in an Infant with Loeys-Dietz Syndrome -
F Jacques, L Grosse-Wortmann, EJ Hickey, D Chitayat, GS Van Arsdell, and TJ Bradley
This paper reports the diagnosis of LDS2 in a one month old who presented for surgical repair of a large ductal aneurysm. A patent ductus arteriosus (PDA) is a heart problem that affects some babies soon after birth. In PDA, abnormal blood flow occurs between two of the major arteries connected to the heart. These arteries are the aorta and the pulmonary artery. Before birth, these arteries are connected by a blood vessel called the ductus arteriosus. This blood vessel is a vital part of fetal blood circulation. Within minutes or up to a few days after birth, the ductus arteriosus closes. This change is normal in newborns. In some babies, however, the ductus arteriosus remains open (patent). The opening allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the pulmonary artery. This can strain the heart and increase blood pressure in the lung arteries . Some individuals need surgery to close the PDA if it does not close on its own.
The patent ductus arteriosus in this baby was dilated and while undergoing surgery, the surgeons noted that there were multiple tears in the tissue that ultimately constituted a contained rupture and surgical repair required a much more extensive surgery. The child is doing well post surgery.
This case highlights the need for aggressive imaging and potential surgical management of ductus arteriosus aneurysms in Loeys-Dietz syndrome.
2.) Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2 - M Renard, B Callewaert, F Malfait, L Campens, S Sharif, M del Campo, I Valenzuela, C Mcwilliam, P Coucke, A De Paepe, J De Backer
This paper assessed the prevalence of TGFB2 mutations in 146 patients presenting with aortic root aneurysm and a spectrum of features including cerebrovascular disease, arterial tortuosity, skeletal features of connective tissue disorders and mitral valve disease. 6 individuals (4%) were found to have a TGFB2 mutation. Importantly, an aortic dissection was noted in an individual at an aortic dimension below the typical 5.0 cm threshold seen in some aneurysm syndromes. Significant mitral valve prolapse occurred in four patients. Skeletal features included flat feet, clubfoot, joint laxity, finger contractures, arachnodactyly (long fingers) and pectus deformities (chest pokes outward or inward).
Our knowledge about the newest LDS gene (TGFB2) continues to evolve. This information helps physicians to constantly reassess thoughts about surgical intervention and possible clinical differences between LDS subtypes.
3.) Multiple Aneurysms in a Patient With Aneurysms-Osteoarthritis syndrome- T Martens, I Van Herzeele, F De Ryck, M Renard, A De Paepe, K Francois, F Vermassen, J De Backer
This paper outlines the findings in a 32 year old with a SMAD3 mutation (LDS 3 or Aneurysms-Osteoarthritis Syndrome). He presented with a history of lower back pain and lumbar hernia. Imaging revealed a saccular aneurysm of the right common iliac artery and a partially thrombosed left common iliac artery aneurysm. The iliac arteries are the arteries that branch of off the abdominal aorta to provide blood to the lower extremities. A thrombosed aneurysm is one that has become filled with clotted blood. The patient underwent successful graft repair of the aneurysms.
Other vascular findings noted during diagnostic imaging included an aortic root aneurysm and aortic and arterial tortuosity.
This paper highlight the presence of extended vascular involvement in LDS 3 beyond the aortic root. Testing for SMAD3 and TGFB2 gene mutations in addition to TGFBR1/2 should be included in a full genetic workup for Loeys-Dietz syndrome. This may be especially true in individuals presenting as adults with aortic aneurysm.
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