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Frontiers in Pediatrics 2023Marfan syndrome (MS) is a systemic disease of connective tissues consisting of a variable combination of anomalies. These patients have an increased risk of spontaneous...
BACKGROUND AND OBJECTIVES
Marfan syndrome (MS) is a systemic disease of connective tissues consisting of a variable combination of anomalies. These patients have an increased risk of spontaneous pneumothorax (SP). However, there is a scarcity of pediatric literature on management, and no specific guidelines exist. Our aim was to analyze the management of spontaneous pneumothorax in children and adolescents with Marfan syndrome, comparing syndromic and non-syndromic patients.
METHODS
Retrospective analysis of pediatric patients (18 years) with SP diagnosed at our tertiary pediatric hospital (January 10-June 22), with special emphasis on diagnosis, treatment, and follow-up (FU).
RESULTS
Sixty-six patients with SP were identified, with nine (13%) having MS. In terms of baseline, there were no significant differences between the groups (age, sex, asthma, symptoms, and side, first-line treatment and hospitalization length). Overall, Marfan patients had significantly more first-line treatment failures requiring additional surgery, as well as more contralateral occurrences and the need for surgery/chest drain during the follow-up. Instead, conservative management resulted in significantly more ipsilateral recurrences and the need for surgery/chest drain in Marfan patients than controls during the follow-up.
CONCLUSIONS
Treatment failure, contralateral occurrence, ipsilateral recurrence, and the need for surgery/chest drain during follow-up make management of patients with Marfan syndrome and spontaneous pneumothorax more difficult. In patients with a diagnosed MS a more aggressive first-line management should be considered, bearing in mind the higher risks of this population.
PubMed: 38173880
DOI: 10.3389/fped.2023.1301902 -
JTCVS Techniques Dec 2023The study objective was to determine repair durability and survival in patients with and without connective tissue disorders undergoing concomitant aortic valve...
OBJECTIVE
The study objective was to determine repair durability and survival in patients with and without connective tissue disorders undergoing concomitant aortic valve reimplantation and mitral valve repair.
METHODS
From 2002 to 2019, 68 patients underwent concomitant aortic valve reimplantation and mitral valve repair, including 27 patients with Marfan syndrome (39.7%). Follow-up echocardiograms were analyzed using nonlinear multiphase mixed-effects cumulative logistic regression. The regurgitation grade over time was estimated by averaging patient-specific profiles. Survival and freedom from reoperation were estimated by the Kaplan-Meier method.
RESULTS
At 7 years, 11% of patients had aortic insufficiency greater than mild (severe in 2 patients). There was no difference in greater than mild aortic insufficiency between patients with or without Marfan syndrome ( = .37). Twenty percent of patients had progressed to mitral regurgitation greater than mild (severe in only 1 patient). The prevalence of recurrent mitral regurgitation was higher in those without Marfan syndrome, with greater than mild regurgitation increasing to 24% by 2 years and remaining constant thereafter ( = .04). Freedom from reoperation on the aortic valve or mitral valve was 83% at 10 years and did not differ between Marfan syndrome groups. There were no cases of perioperative mortality. Survival at 5 and 10 years was 94% and 87%, respectively, without a difference between those with and without Marfan syndrome.
CONCLUSIONS
Patients can undergo a total repair strategy using combined aortic valve reimplantation and mitral valve repair procedures with a low risk of mortality and complications, with favorable freedom from both residual valve regurgitation and reoperation.
PubMed: 38152191
DOI: 10.1016/j.xjtc.2023.09.015 -
Journal of Medical Case Reports Dec 2023Congenital ectopia lentis is characterized by dislocation of the lens caused by partial or complete abnormalities in the zonular fibers. It can be caused by either... (Review)
Review
BACKGROUND
Congenital ectopia lentis is characterized by dislocation of the lens caused by partial or complete abnormalities in the zonular fibers. It can be caused by either systemic diseases or isolated ocular diseases. Gene detection techniques can provide valuable information when an etiological diagnosis is challenging. Herein, we report the case of a six-year-old girl with a confirmed diagnosis of isolated ectopia lentis caused by a compound heterozygous ADAMTSL4 gene mutation.
CASE PRESENTATION
The patient was a 6-year-old Chinese Han girl with strabismus in the right eye. Slit lamp examination revealed that the lens in the right eye was opacified and dislocated, without an ectopic pupil. Gene detection demonstrated the presence of a compound heterozygous mutation in the ADAMTSL4 gene [c. 2270dupG (p.Gly758Trpfs *59) and c. 2110A > G (p.Ser704Gly)], and the diagnosis of isolated ectopia lentis was confirmed. She underwent lens extraction, and a sutured scleral-fixated posterior chamber intraocular lens (IOL) was placed in the right eye. The best-corrected visual acuity was 0.1 one month postoperatively.
CONCLUSION
Gene detection plays a crucial role in diagnosing disorders with similar symptoms, such as isolated ectopia lentis and Marfan syndrome. In this study, we used whole exons sequencing to diagnose isolated ectopia lentis and identified the variant c.2110A > G (p.Ser704Gly), which may be associated with the development of ectopia lentis and early-onset cataract in the patient. These pathogenic gene mutations have significant implications for the genetic diagnosis of congenital ectopia lentis, treatment, surveillance, and hereditary and prenatal counseling for the patient and their family members.
Topics: Female; Humans; Child; Ectopia Lentis; Lens, Crystalline; Mutation; Exons; ADAMTS Proteins
PubMed: 38146062
DOI: 10.1186/s13256-023-04272-7 -
Interdisciplinary Cardiovascular and... Dec 2023The most recent valve-sparing root replacement technique combines the advantages of the reimplantation (David) and remodelling (Yacoub) techniques. The aortic root is...
OBJECTIVES
The most recent valve-sparing root replacement technique combines the advantages of the reimplantation (David) and remodelling (Yacoub) techniques. The aortic root is reconstructed according to the remodelling technique, the aortic valve is repaired according to the principle of effective height, and an external ring provides annular support. The purpose of this study was to evaluate operative and mid-term outcomes using this technique in patients with Marfan syndrome.
METHODS
Adult patients with Marfan syndrome who had an indication for aortic root surgery according to European Society of Cardiology guidelines and were operated on using this new root replacement technique were retrospectively evaluated. Follow-up was obtained from standard outpatient visits and included echocardiography.
RESULTS
The study group comprised 22 patients (mean age 36 years, 68% males). Mean follow-up was 7.5 years. There were no mortalities. Two patients required aortic valve replacement because of aortic regurgitation. In both patients, the aortic root was severely dilated (≥65 mm) preoperatively, with grade III aortic valve regurgitation and aortic valve cusps that were very fragile. Aortic regurgitation was grade ≤I on follow-up in 18 of the remaining 20 patients.
CONCLUSIONS
Valve-sparing root replacement using remodelling combined with aortic-ring annuloplasty is safe in patients with Marfan syndrome. The mid-term outcome is promising in patients undergoing elective valve-sparing root replacement at recommended root diameters. However, in patients with extremely dilated aortic roots and already severe aortic regurgitation, the technique should be used cautiously as aortic cusps are fragile and might not be suitable for durable repair.
CLINICAL REGISTRATION NUMBER
UMCG Research registry #11208.
PubMed: 38109664
DOI: 10.1093/icvts/ivad200 -
Frontiers in Cardiovascular Medicine 2023LACHT (Lung Agenesis, Congenital Heart, and Thumb anomalies) syndrome is an extremely rare congenital anomaly and presents significant challenges in adults due to its...
LACHT (Lung Agenesis, Congenital Heart, and Thumb anomalies) syndrome is an extremely rare congenital anomaly and presents significant challenges in adults due to its poor survival rates. Herein, we report a case of late diagnosis and successful transcatheter treatment of aortic coarctation in a 58-year-old male patient with LACHT syndrome, medically resistant arterial hypertension, and left lung agenesis. Baseline CT angiography showed isthmic aortic coarctation and left lung agenesis, with compensatory right pulmonary artery and vein thickenings. The patient underwent balloon dilation and subsequent implantation of a covered NuMED 45 mm 8-ZIG CP stent with satisfactory outcomes. The pressure gradient decreased from 43 to 23 mmHg. The arterial pressures normalized during the follow-up with fewer medications. Genetic testing identified a heterozygous mutation (c.6583C > T) in the FBN2, supporting the diagnosis of variant Marfan syndrome.
PubMed: 38099230
DOI: 10.3389/fcvm.2023.1239624 -
JACC. Case Reports Dec 2023Management of Marfan syndrome and its complications during pregnancy requires a multidisciplinary approach to minimize adverse maternal and fetal outcomes. We present 2...
Management of Marfan syndrome and its complications during pregnancy requires a multidisciplinary approach to minimize adverse maternal and fetal outcomes. We present 2 cases to highlight the key considerations and management strategies addressed by the pregnancy heart team for patients with Marfan syndrome with and without chronic dissection.
PubMed: 38094728
DOI: 10.1016/j.jaccas.2023.102055 -
Computational and Mathematical Methods... 2023[This retracts the article DOI: 10.1155/2022/9348311.].
Retracted: Femtosecond Laser Combined with Double-Flange Polypropylene Suture Capsular Tension Ring Suspension for the Treatment of Subluxation of Lens in Marfan Syndrome.
[This retracts the article DOI: 10.1155/2022/9348311.].
PubMed: 38094315
DOI: 10.1155/2023/9807178 -
Indian Journal of Thoracic and... Dec 2023An aortic dissection is the most devastating complication of thoracic aortic disease. Several non- and syndromic conditions such as a bicuspid aortic valve (BAV) and...
BACKGROUND
An aortic dissection is the most devastating complication of thoracic aortic disease. Several non- and syndromic conditions such as a bicuspid aortic valve (BAV) and Marfan syndrome (MFS) have a severely increased risk to develop a thoracic aortic aneurysm and dissection. To date, the medial layer has been extensively studied in search of the pathogenetic mechanisms leading to aortic complications.
OBJECTIVE
We aim to determine whether intimal layer pathology is characteristic in all thoracic aortopathy regardless of the underlying etiology.
METHOD
A total of 176 aortic wall specimen were studied for the intimal layer architecture including the intimal thickness, endothelial cell morphology, and atherosclerosis. Specimens were derived from four patient groups: BAV ( = 70, age 57 ± 8.9 years), isolated tricuspid aortic valve (TAV) ( = 38, age 64.9 ± 11.0 years), MFS with a TAV ( = 8, age 34.2 ± 11.0 years), type A dissections with a TAV ( = 60, age 62.7 ± 10 years).
RESULTS
The intimal layer is significantly thinner in BAV, MFS, and type A aortic dissection as compared to the isolated TAV patients ( < 0.001). Intimal atherosclerosis was also significantly less present in the three groups as compared to the isolated TAV ( < 0.05).
DISCUSSION
A thin intimal layer is a common finding in the thoracic aortopathy patients. Studies aiming at preventing future aortic complications should focus on the intimal pathology as a common effector pathway in thoracic aortopathy.
PubMed: 38093926
DOI: 10.1007/s12055-023-01528-1 -
Advanced Science (Weinheim,... Feb 2024Ectopia lentis is a hallmark of Marfan syndrome (MFS), a genetic connective tissue disorder affecting 1/5000 to 1/10 000 individuals worldwide. Early detection in...
Ectopia lentis is a hallmark of Marfan syndrome (MFS), a genetic connective tissue disorder affecting 1/5000 to 1/10 000 individuals worldwide. Early detection in ophthalmology clinics and timely intervention of cardiovascular complications can be lifesaving. In this study, a modified proteomics workflow with liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based data-independent acquisition (DIA) and field asymmetric ion mobility spectrometry (FAIMS) to profile the proteomes of aqueous humor (AH) and lens tissue from MFS children with ectopia lentis is utilized. Over 2300 and 2938 comparable proteins are identified in AH and the lens capsule, respectively. Functional enrichment analyses uncovered dysregulation of complement and coagulation-related pathways, collagen binding, and cell adhesion in MFS. Through weighted correlation network analysis (WGCNA) and machine learning, distinct modules associated with clinical traits are constructed and a unique biomarker panel (Q14376, Q99972, P02760, Q07507; gene names: GALE, MYOC, AMBP, DPT) is defined. These biomarkers are further validated using advanced parallel reaction monitoring (PRM) in an independent patient cohort. The results provide novel insights into the proteome characterization of ectopia lentis and offer a promising approach for developing a valuable biomarker panel to aid in the early diagnosis of Marfan syndrome via AH proteome.
Topics: Child; Humans; Marfan Syndrome; Ectopia Lentis; Proteome; Aqueous Humor; Chromatography, Liquid; Tandem Mass Spectrometry; Biomarkers
PubMed: 38088571
DOI: 10.1002/advs.202303161 -
POCUS Journal 2023Aortic dissection (AD) is a medical emergency with a poor prognosis if not recognized early and treated promptly. In this setting, clinical data may be equivocal, while...
Aortic dissection (AD) is a medical emergency with a poor prognosis if not recognized early and treated promptly. In this setting, clinical data may be equivocal, while electrocardiogram, laboratory tests, and chest radiography often show nonspecific findings. In contrast, cardiac point of care ultrasound (POCUS) has proven useful in the diagnosis and detection of complications of AD. We present the case of a 29-year-old man with marfanoid habitus presenting with chest pain and acute heart failure, in whom cardiac POCUS aided in the rapid diagnosis of type A AD and pulmonary edema. POCUS contributed to optimizing the medical treatment and allowed for early activation of the surgical team.
PubMed: 38076225
DOI: 10.24908/pocus.v8i2.16533