BACKGROUND: Marfan Syndrome is an autosomal dominant disease caused by pathogenetic variants in the FBN1 gene. The progressive dilatation of the aorta and the potential risk of acute aortic syndromes influence the prognosis of these patients. We aim to describe population characteristics, long-term survival, and re-intervention patterns in patients who underwent aortic surgery with a previously confirmed clinical diagnosis of Marfan Syndrome in a middle-income country.
METHODS: A retrospective single-center case series study was conducted. All Marfan Syndrome patients who underwent aortic procedures from 2004 until 2021 were included. Qualitative variables were frequency-presented, while quantitative ones adopted mean ± standard deviation. A subgroup analysis between elective and emergent procedures was conducted. Kaplan-Meier plots depicted cumulative survival and re-intervention-free. Control appointments and government data tracked out-of-hospital mortality.
RESULTS: Fifty patients were identified. The mean age was 38.79 ± 14.41 years, with a male-to-female ratio of 2:1. Common comorbidities included aortic valve regurgitation (66%) and hypertension (50%). Aortic aneurysms were observed in 64% without dissection and 36% with dissection. Surgical procedures comprised elective (52%) and emergent cases (48%). The most common surgery performed was the David procedure (64%), and the Bentall procedure (14%). The in-hospital mortality rate was 4%. Complications included stroke (10%), and acute kidney injury (6%). The average follow-up was 8.88 ± 5.78 years. Survival rates at 5, 10, and 15 years were 89%, 73%, and 68%, respectively. Reintervention rates at 1, 2.5, and 5 years were 10%, 14%, and 17%, respectively. The emergent subgroup was younger (37.58 ± 14.49 years), had the largest number of Stanford A aortic dissections, presented hemodynamic instability (41.67%), and had a higher requirement of reinterventions in the first 5 years of follow-up (p = 0.030).
CONCLUSIONS: In our study, surveillance programs played a pivotal role in sustaining high survival rates and identifying re-intervention requirements. However, challenges persist, as 48% of the patients required emergent surgery. Despite not affecting survival rates, a greater requirement for reinterventions was observed, emphasizing the necessity of timely diagnosis. Enhanced educational initiatives for healthcare providers and increased patient involvement in follow-up programs are imperative to address these concerns.

Lupus erythematosus is an autoimmune disorder with varied clinical features. Discoid Lupus Erythematosus (DLE) presents as erythematous, raised plaques. The patients might present with photosensitivity, arthralgia, and nail changes. However, dermoscopy, clinical features, and laboratory markers like high titers of Antinuclear antibodies (ANA) help in clenching the diagnosis. We report a patient in her mid-60s presented with non-healing ulcers oozing pus discharge associated with pain and joint stiffness. Thus, a series of investigations, treatment modifications, and the healing progression of the lesions highlight the importance of retrospective diagnosis.

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disorder that affects the connective tissue. The incidence of ATS is not well known and to date only 106 patients have been described in the literature. ATS affects medium and large size arteries, leading to widespread elongation and intensification of the average vessel tortuousness, responsible of several loops and kinks. Like other connective tissue disorders, ATS can present with joint laxity, hernias, pectus excavatum, scoliosis or other musculoskeletal abnormalities, and ocular defects. Due to the extreme variability of clinical symptoms and the fact that ATS has no curative management, prompt diagnosis is of tremendous importance to prevent disease-associated complications. In this situation, imaging techniques have a central role. In this study, we describe a rare case of a male newborn with tortuosity and lengthening of the main arterial and venous medium and large caliber branches with associated aortic coarctation who passed away prematurely. The finding of aortic coarctation in a newborn with ATS has rarely been described in the literature.

Background Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder that predominantly affects cardiovascular, skeletal, and craniofacial structures. Associated thoracolumbar scoliosis in LDS can be challenging to manage, though other etiologies of pediatric scoliosis have better-defined management guidelines. We examined our institutional experience regarding the treatment of pediatric patients with LDS and scoliosis. Methodology In this retrospective study, all patients seen at our pediatric tertiary care center from 2004 through 2018 with a diagnosis of LDS were reviewed, and those with radiographic diagnoses of scoliosis (full-length scoliosis X-rays) were included. Demographic, clinical, and radiographic parameters were collected, and management strategies were reported. Results A total of 39 LDS patients whose ages ranged between seven and 13 years were identified. A total of nine patients were radiographically diagnosed with scoliosis, but three patients were excluded due to incomplete medical records, leaving six patients. The median age at scoliosis diagnosis was 11.5 years, with a median follow-up of 51 months. Two patients were successfully managed with observation (average initial Cobb angle (CA): 14°, average final CA: 20.5°). Two were braced, one successfully (initial CA: 15°, final CA: 30°) and one with a progressive disease requiring surgery (initial CA: 40°, final CA: 58°). Of the two who were offered surgical correction, one underwent surgery with a durable correction of spinal deformity (CA: 33° to 19°). One patient underwent a recent correction of aortic root dilatation and was not a candidate for scoliosis surgery. Conclusions Principles of adolescent idiopathic scoliosis management such as bracing for CA of 20-50° and surgery for CA of >50° can be applied to LDS patients with good outcomes. This augments our understanding of the treatment algorithm for pediatric patients with LDS.

Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by manifestations in the musculoskeletal system (joint laxity, scoliosis), the cardiovascular system (aortic dilation), and the ocular system (ectopic lens). We report a case of a 37-year-old male with a genetically confirmed MFS. His mother and brother were also both confirmed cases of MFS. While the patient exhibited the characteristic physical features of MFS in general appearance, he did not show any cardiac manifestations of the disease. This report highlights a case of the familial occurrence of MFS and emphasizes the importance of recognizing the forme fruste of MFS.

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Fragile X syndrome (FXS) is an inherited genetic condition that is the leading known cause of inherited intellectual developmental disability. Phenotypically, individuals with FXS also present with distinct physical features including, elongated face, prominent ears, pectus excavatum, macroorchidism, and joint laxity, which suggests connective tissue dysplasia. In addition to mitral valve prolapse, aortic dilatation has been identified within individuals with FXS. Abnormal elastin fiber networks have been found in the skin, valves, and aorta in individual cases. Aortic dilatation has been described in other connective tissue disorders, particularly Marfan syndrome. However, while aortic aneurysms are characteristic of Marfan syndrome, no similar cases have been reported in FXS patients to date. This case report details the presentation of two patients with FXS and aortic aneurysm. Our two cases highlight the risks of aortic pathology in FXS, and the need for monitoring in asymptomatic patients with significant aortic dilatation.

We present a case of early onset osteoarthritis in a patient with Ehlers-Danlos syndrome (EDS) and a history of developmental dysplasia of the hip. Ehlers-Danlos syndrome (EDS) is part of a wide spectrum of connective tissue disorders characterized by hyperextensible skin, hypermobile joints, and tissue fragility. Presentation varies from mild hyperextensibility of the skin and joints to debilitating physical disabilities and vascular complications because of genetic defects in type one and three collagen synthesis. Collagen is the most abundant protein in nearly all parts of the body and errors in the production of this protein have widespread effects. Therefore, we suggest a multidisciplinary approach to the management of patients with EDS, with an emphasis on patient education, to aid in the prevention and early detection of complications.

Coarctation of the aorta (CoA) with arterial tortuosity syndrome (ATS) is a rare hereditary condition characterized by elongation and tortuosity of the medium- and large-sized arteries, pulmonary hypertension, pulmonary artery stenosis, and constriction or narrowing of the aorta. Considering the non-specific indications and the overlap of ATS with other disorders of the connective tissue such as Williams Beuren syndrome (elastin), Marfan syndrome (fibrillin-1) and Ehlers Danlos syndrome (Type III collagen), it is vital to keep a high diagnostic suspicion in the analysis of the condition. We therefore report on a rare occurrence of coarctation of the aorta with arterial tortuosity syndrome in a teenage female who initially presented with severe resistant hypertension, providing additional literature to aid in the differential diagnosis of COA with ATS. Cinematic rendering delivered a markedly enhanced view of the condition, allowing for greater accuracy in the diagnosis.

UNASSIGNED: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly presents with vascular abnormalities. Owing to the rarity and severity of the condition, consensus guidelines for aortic surgery thresholds vary. In addition, evaluation of coronary arteries in patients with LDS (either routinely or before aortic root surgery) remain undefined. In this case report, we discuss a patient with LDS who found to have an ectatic aortic root and a coronary artery aneurysm and discuss guidelines for evaluation and management in this patient population.
UNASSIGNED: A 48-year-old woman was incidentally found to have a 45 mm ectatic aortic root during evaluation for a neck mass. As part of pre-operative evaluation for aortic root replacement, left heart catheterization revealed a left main coronary artery aneurysm. Family history revealed aortic aneurysms, sudden cardiac death, and tall height. Physical examination was notable for pectus excavatum and elongated limbs. Workup for inflammatory aetiologies of aortic root dilation was negative. Genetic testing revealed a heterozygous pathogenic TGBF3 variant, consistent with LDS Type 5. She subsequently underwent two-vessel coronary artery bypass, excision of her left main coronary artery aneurysm, and ascending aortic replacement.
UNASSIGNED: In this case, we describe a patient with LDS who was noted to have a coronary artery aneurysm, a rare finding in the initial presentation of disease. In addition, we examine guidelines regarding evaluation of management of aortic root disease and coronary aneurysms.