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Hereditary aortic aneurysms and dissections, such as Marfan syndrome, differ in that they occur in younger patients without generally recognized risk factors, have a predilection for the thoracic rather than the abdominal aorta, and are at risk for dissection even at smaller aortic diameters. Early diagnosis, careful follow-up, and early intervention, such as medication to reduce aortic root growth and prophylactic aortic replacement to prevent fatal aortic dissection, are essential for a better prognosis. Molecular genetic testing is extremely useful for early diagnosis. However, in actual clinical practice, the question often arises as to when and to which patient genetic testing should be offered since the outcome of the tests can have important implications for the patient and the relatives. Pre- and post-test genetic counseling is essential for early intervention to be effective. (This article is a secondary translation of Jpn J Vasc Surg 2023; 32: 261-267.).

Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and/or its associated proteins. The clinical phenotype includes multiple signs and symptoms, usually nonspecific but of interest to rheumatologists because of musculoskeletal involvement. The patient´s journey to diagnosis is long, and physicians should include these disorders in their differential diagnoses of diseases with systemic involvement. In this review, insights for the diagnosis and treatment of osteogenesis imperfecta, hypermobility spectrum disorder/Ehlers-Danlos syndrome, Marfan, Loeys-Dietz, and Stickler syndromes are presented.

OBJECTIVE: The aim of this study was to report on mid-term outcomes after endovascular aortic repair (EVAR) in patients with Marfan (MFS) or Loeys-Dietz (LDS) syndrome.
METHODS: We analysed data from 2 European centres of patients with MFS and LDS undergoing EVAR. Patients were analysed based on (i) timing of the procedure (planned versus emergency procedure) and (ii) the nature of the landing zone (safe versus non-safe). The primary end-point was freedom from reintervention. Secondary end-points were freedom from stroke, bleeding and death.
RESULTS: A population of 419 patients with MFS (n = 352) or LDS (n = 67) was analysed for the purpose of this study. Thirty-nine patients (9%) underwent EVAR. Indications for thoracic endovascular aortic repair or EVAR were aortic dissection in 13 (33%) patients, aortic aneurysm in 22 (57%) patients and others (intercostal patch aneurysm, penetrating atherosclerotic ulcer, pseudoaneurysm, kinking of frozen elephant trunk (FET)) in 4 (10%) patients. Thoracic endovascular repair was performed in 34 patients, and abdominal endovascular aortic repair was performed in 5 patients. Mean age at 1st thoracic endovascular aortic repair/EVAR was 48.5 ± 15.4 years. Mean follow-up after 1st thoracic endovascular aortic repair/EVAR was 5.9 ± 4.4 years. There was no statistically significant difference in the rate of reinterventions between patients with non-safe landing zone and the patients with safe proximal landing zone (P = 0.609). Furthermore, there was no increased probability for reintervention after planned endovascular intervention compared to emergency procedures (P = 0.916). Mean time to reintervention, either open surgical or endovascular, after planned endovascular intervention was in median 3.9 years (95% confidence interval 2.0-5.9 years) and 2.0 years (95% confidence interval -1.1 to 5.1 years) (P = 0.23) after emergency procedures.
CONCLUSIONS: EVAR in patients with MFS and LDS and a safe landing zone is feasible and safe. Endovascular treatment is a viable option when employed by a multi-disciplinary aortic team even if the landing zone is in native tissue.

Patients with heritable connective tissue disorders (HCTDs), represented by Marfan syndrome, can develop fatal aortic and/or arterial complications before age 50. Therefore, accurate diagnosis, appropriate medical treatment, and early prophylactic surgical treatment of aortic and arterial lesions are essential to improve prognosis. Patients with HCTDs generally present with specific physical features due to connective tissue abnormalities, while some patients with heritable thoracic aortic diseases (HTADs) have few distinctive physical characteristics. The development of genetic testing has made it possible to provide accurate diagnoses for patients with HCTDs/HTADs. This review provides an overview of the diagnosis and treatment of HCTDs/HTADs, including current evidence on cardiovascular interventions for this population.

BACKGROUND: Iatrogenic aortic dissection during cardiac surgery is a rare but critical complication. At present, no strategies have been developed to prevent it. We herein report a case of intraoperative aortic dissection during aortic root replacement in an older patient with Loeys-Dietz syndrome type III who had no family history of aortic disease.
METHODS: A 60-year-old man was admitted to the hospital for Stanford type B acute aortic dissection and given conservative treatment. He was found to have aortic root dilatation and severe aortic regurgitation. Thus, elective Bentall procedure was performed. Postoperative computed tomography showed new Stanford type A aortic dissection that may have developed due to aortic cannulation during surgery. The patient was given conservative treatment and successfully discharged to home at postoperative day 34. Although he had no family history of aortic disease, a genetic test revealed an unreported SMAD3 frameshift mutation (c.742_749dup, p. Gln252ThrfsTer7), and the patient was diagnosed with Loeys-Dietz syndrome type III.
CONCLUSIONS: In patients with connective tissue disorder, aortic manipulations may become the cause of critical complications. Avoiding the use of invasive techniques, such as cannulation and cross-clamping, and implementing treatment strategies, such as perfusion from other sites than the aorta and open distal anastomosis, can prevent these complications, and may be useful treatment modalities. The possibility of connective tissue disease should be considered even if the patient is older and has no family history of aortic disease.

BACKGROUND: Cardiovascular involvement in pediatric patients with connective tissue disease (CTD) is life-threatening, with aortic root dilatation being the most prevalent cardiovascular abnormality. We attempted to determine long-term outcomes of valve-sparing root replacement (VSRR) in this group, including cardiovascular reoperations for aortic aneurysm and dissection.
METHODS: We conducted a retrospective analysis of pediatric patients with CTD who received VSRR in a single center from 2002 to 2021. The primary end point was a composite event of all-cause death and cardiovascular reoperations. The median follow-up duration was 8.3 years, with a maximum of 20.7 years.
RESULTS: The median age of 24 pediatric patients who had VSRR was 14.4 years. Marfan syndrome and Loeys-Dietz syndrome affected 19 (79.2%) and 5 (20.8%) patients, respectively. There was no early death. The 15-year survival rate was 91.7%. At 10 years after VSRR, the cumulative incidence of reoperation for aortic regurgitation was 15.6%, and for aortic aneurysm or dissection, it was 29.1%. The 10-year rate of freedom from the primary end point was 53.1%. The Cox multivariable analysis revealed younger age at surgery (hazard ratio, 1.279; 95% confidence interval, 1.086-1.505; P = .003) and VSRR before 13 years of age (hazard ratio, 5.005; 95% confidence interval, 1.146-21.850; P = .032) as independent prognostic factors for the primary endpoint.
CONCLUSIONS: VSRR for aortic root dilatation in pediatric patients with CTD demonstrated good long-term survival and low reoperation rates for aortic regurgitation. However, several patients developed later aortic aneurysm or dissection, and careful surveillance may be required, particularly in those who received VSRR at younger age.

Ascending aortic aneurysm is very rare in children, and is usually seen in patients with underlying connective tissue disorders such as Marfans and Ehler-Danlos syndrome. Loeys-Dietz syndrome (LDS) is less commonly seen as a cause of ascending aortic aneurysms in children. In this case report, we describe pediatric Bentall procedure, which we successfully performed to a child with LDS (Type I) with giant ascending aortic enlargement and significant aortic regurgitation.

Syndromic aortic diseases (SADs) encompass various pathological manifestations affecting the aorta caused by known genetic factors, such as aneurysms, dissections, and ruptures. However, the genetic mutation underlying aortic pathology also gives rise to clinical manifestations affecting other vessels and systems. As a consequence, the main syndromes currently identified as Marfan, Loeys-Dietz, and vascular Ehlers-Danlos are characterized by a complex clinical picture. In this contribution, we provide an overview of the genetic mutations currently identified in order to have a better understanding of the pathogenic mechanisms. Moreover, an update is presented on the basis of the most recent diagnostic criteria, which enable an early diagnosis. Finally, therapeutic strategies are proposed with the goal of improving the rates of patient survival and the quality of life of those affected by these SADs.

Heterozygous TGFBR2 loss-of-function mutation is an extremely rare cause of very-early onset inflammatory bowel disease (VEOIBD) as, so far, only three cases have been reported in the literature. VEOIBD therapeutic management remains a real challenge for clinicians. Here, we described an interesting new case of Loeys-Dietz syndrome presenting severe, very early intestinal inflammation associated with dysmorphic features, aortic arch tortuosity joint hyper laxity and severe scoliosis. TGFBR2 Sanger sequencing revealed a missense mutation c.1583G>A (p.Arg528His). As endoscopy confirmed a severe colitis, we chose a classical IBD therapeutic approach. We finally obtained remission under Ustekinumab (90 mg/6 weeks).