Humans ; Infant, Newborn ; Male ; Marfan Syndrome ; complications ; Urinary Tract ; abnormalities

We report on an 18-year-old man who had both acute monoblastic leukemia and Marfan syndrome. A diagnosis of Marfan syndrome was established by those characteristics of arachnodactyly, ectopia lentis, mitral valve prolapse, and mitral regurgitation. Findings on bone marrow examination of the patient showed that most of nucleated cells were monoblasts and immunophenotype of those cells showed CD13+, CD33+, CD56+, and HLA-DR+. To our knowledge, this is the second report of leukemia in Marfan syndrome in the world.
Adolescence ; Biopsy, Needle ; Bone Marrow/pathology ; Diagnosis, Differential ; Echocardiography ; Electrocardiography ; Human ; Leukemia, Monocytic, Acute/diagnosis ; Leukemia, Monocytic, Acute/complications* ; Male ; Marfan Syndrome/diagnosis ; Marfan Syndrome/complications*

Thoracoabdominal aortic aneurysm (TAAA) involving the roots of the celiac, superior mesenteric and both renal arteries is a rare, but potentially lethal disease. The overall postoperative mortality rate is high even when the intact TAAA is electively repaired. Furthermore, the postoperative complications are often serious and they include acute renal failure, paraplegia, respiratory distress and intestinal ischemia. The inclusion technique using a visceral-aortic patch (VAP) is considered the gold standard method for visceral artery revascularization for the treatment of TAAA. However, the inclusion technique is not feasible for patients with Marfan syndrome or for those patients with inappropriate anatomy for VAP. In such cases, separate visceral revascularization is a useful alternative and this may decrease the visceral ischemic time. Herein we report on 3 cases of TAAA, and the patients all underwent successful separate visceral revascularization, including one patient with Marfan syndrome.
Acute Kidney Injury ; Aortic Aneurysm, Thoracic ; Arteries ; Humans ; Ischemia ; Marfan Syndrome ; Paraplegia ; Postoperative Complications ; Renal Artery

OBJECTIVETo review the current evidence about the prevalence of obstructive sleep apnea in patients with Marfan's syndrome, and discuss some proposed potential mechanisms for this relationship.

DATA SOURCESThe data in this review were mainly from Medline and PubMed articles published in English from 1990 to 2013. The search term was "Marfan's syndrome and sleep apnea".

STUDY SELECTIONClinical evidence about the epidemiology of obstructive sleep apnea in patients with Marfan's syndrome; the mechanism that causes obstructive sleep apnea; interventional therapy for patients with Marfan's syndrome, and coexisting obstructive sleep apnea.

RESULTSA high prevalence of obstructive sleep apnea exists in patients with Marfan's syndrome. The potential reasons are craniofacial abnormalities and lax upper airway muscles, which lead to high nasal airway resistance and upper airway collapse. Obstructive sleep apnea mechanically deteriorates aortic dilatation and accelerates progression of aortic aneurysms. The condition is reversible and rapid maxillary expansion and adequate continuous positive airway pressure therapy are possible effective therapies to delay the expansion of aortic diameter in patients with Marfan's syndrome.

CONCLUSIONSObstructive sleep apnea is strongly associated with Marfan's syndrome. Craniofacial abnormalities and lax upper airway are the main mechanisms. Untreated obstructive sleep apnea accelerates progression of aortic dissection and rupture. Effective therapies for obstructive sleep apnea could postpone the aortic dilatation in patients with Marfan's syndrome.

Humans ; Marfan Syndrome ; epidemiology ; etiology ; Prevalence ; Sleep Apnea, Obstructive ; complications ; epidemiology

Adolescent ; Child ; Female ; Humans ; Male ; Marfan Syndrome ; complications ; diagnostic imaging ; Radiography ; Scoliosis ; diagnostic imaging ; surgery

PURPOSE: We evaluated the clinical results of phacoemulsifacation using microhook iris retractor for the management of ectopia lentis in Marfan syndrome. METHODS: Seventeen eyes of 9 patients with Marfan syndrome were included. All the patients had undergone phacoemulsifacation with microhook iris retractor capsule stabilization between May 1997 and January 2000. RESULTS: Mean patient age was 11.6 +/-8.2 years old. Superior nasal(38%) and superior temporal(38%) were the most common direction of lens dislocation. Fifteen eyes demonstrated improvement in best corrected visual acuity by 2 lines or more following average follow-up period of 22.9 +/-9.2 months. As postoperative complications retinal detachment developed in 3 eyes. CONCLUSIONS: Phacoemulsifacation using microhook iris retractor for capsule stabilization appears to be a good technique for the management of ectopia lentis in Marfan syndrome.
Ectopia Lentis* ; Follow-Up Studies ; Humans ; Iris* ; Lens Subluxation ; Marfan Syndrome* ; Phacoemulsification* ; Postoperative Complications ; Retinal Detachment ; Visual Acuity

OBJECTIVETo investigate the impairment pattern and the influencing factors of pulmonary function in patients with Marfan and Marfanoid syndrome associated scoliosis (MS).

METHODSIn this retrospective study, totally 25 MS patients (aged 11 - 20 years, 11 boys and 14 girls) who received posterior instrumentation and fusion (Group A) and 38 adolescent idiopathic scoliosis (AIS) patients (Group B) (aged 10 - 19 years, 11 boys and 27 girls) were included from February 1998 to September 2007. The curve pattern was matched in both groups. The preoperative pulmonary function test (PFTs) were compared in two groups. And the parameters influencing the preoperative pulmonary function were analyzed in group A.

RESULTSIn Group A, the Cobb angle of thoracic curve was negatively correlated with the percentage of predicted pulmonary volumes (VC%, FVC% and FEV1%) (r = -0.514, -0.503, -0.464, P < 0.05). And the reduction of lung function parameters (VC%, FVC%, FEV1% and MMEF%) was more severe in Group A than in Group B with compared magnitude of thoracic curve (P < 0.05). In Group A, the extent of impairment of pulmonary function in patients with the number of vertebrae involved ≥ 8 were more severe than those involved < 8 vertebrae (P < 0.05). However, there was no significant difference of deterioration of lung function between the higher apex (T₄₋₈) subgroup and lower apex (T₉₋₁₂) subgroup. And no correlation was found between thoracic kyphosis and the degrees of impairment of respiration function.

CONCLUSIONSPatients with MS have mixed ventilation dysfunction, which is more severe than AIS patients with matched age and Cobb angle. The pulmonary dysfunction in MS patients can be influenced by the severity of thoracic curve and the number of involved vertebrae.

Adolescent ; Child ; Female ; Humans ; Lung ; physiopathology ; Male ; Marfan Syndrome ; complications ; physiopathology ; Respiratory Function Tests ; Retrospective Studies ; Scoliosis ; complications ; physiopathology ; Young Adult

Objective To evaluate the early and midterm results of surgical repair of thoracoabdominal aortic aneurysm(TAAA)in patients with Marfan syndrome(MFS). Methods The clinical data of patients with MFS undergoing TAAA repair in Fuwai Hospital between January 2009 and December 2017 were retrospectively analyzed.These patients were divided into two groups:MFS group(=58)and non-MFS group(=98).The baseline data,early postoperative results,and midterm follow-up outcomes were compared between these two groups. Results MFS patients were significantly younger(32 years old 45 years old,=9.603,=0.000)and more frequently had a history of aortic aneurysm or dissection(19% 0,=19.996,=0.000)than non-MFS patients.However,the proportions of males and smokers were significantly lower when compared with non-MFS patients(55.2% 80.6%,=11.489,=0.001;13.8% 46.9%,=17.686,=0.001).There was no significant difference in proportion of emergency operation,prophylactic cerebrospinal fluid drainage,operation time,intra-operative circulation management,and intra-operative blood transfusion(all >0.05).The 30-day mortality rate was significantly lower in MFS group than in non-MFS group(0 9.2%, [Formula: see text]=5.034,=0.025). Conclusions For patients with MFS,TAAA repair provides lower 30-day mortality and comparative middle-term survival.However,the re-intervention rate is higher among MFS patients,highlighting the importance of close follow-up.
Adult ; Aneurysm, Dissecting ; Aortic Aneurysm, Thoracic ; complications ; surgery ; Blood Vessel Prosthesis Implantation ; Female ; Humans ; Male ; Marfan Syndrome ; complications ; Middle Aged ; Retrospective Studies ; Treatment Outcome

PURPOSE: Aortic dissection (AoD) is one of the most common catastrophes involving the aorta. Nevertheless, early diagnosis remains to be a challenge in the Emergency Department (ED), particularly in young individuals. In this study, we attempted to identify the characteristics of acute AoD among young individuals, particular in patients with Marfan syndrome. MATERIALS AND METHODS: This was an retrospective chart-review study conducted in a tertiary referring hospital. The hospital database was queried for the combination of AoD and patients under age of 40 years. The medical charts were reviewed to obtain demographic data, clinical data and laboratory characteristics by using a standardized data collection sheet. A comparison between Marfan syndrome and non-Marfan syndrome patients was performed. RESULTS: During the 10-years period, 18 of 344 patients with acute AoD were younger than 40 years-old. Patients with Marfan syndrome developed acute AoD at a younger age than patients without Marfan syndrome. The mean diastolic blood pressure was significantly lower in patients with Marfan syndrome upon presenting to the ED than those without. Patients with Marfan syndrome had trends toward higher risk of development of type A AoD, increased recurrence rate and higher mortality rate than those without. However, statistical significance was not present. CONCLUSION: ED physicians should have high alert to acute AoD in young patients presenting with severe unexplained chest and back pain, particularly in those patients with a history of heart diseases, hypertension, and Marfan syndrome or featuring Marfanoid habitus. Acute coronary syndrome, unexplained abdominal symptoms, and sudden cardiac arrest could be the initial manifestation of AoD in young patients. A low threshold to perform enhanced computed tomography may facilitate early diagnosis and timely treatment in this patient population.
Adult ; Aneurysm, Dissecting/*complications/epidemiology/*pathology ; Aortic Aneurysm/complications/epidemiology/*pathology ; Asian Continental Ancestry Group ; Female ; Heart Defects, Congenital/complications/physiopathology ; Humans ; Hypertension/complications/physiopathology ; Male ; Marfan Syndrome/*complications/*physiopathology ; Middle Aged ; Retrospective Studies ; Young Adult

PURPOSE: To assess the clinical characteristics, indications of operation, operative methods and visual prognosis in Marfan syndrome with ectopia lentis. METHODS: Medical records of 13 patients (24 eyes) operated due to ectopia lentis were retrospectively analyzed. We evaluated family history, chief complaints, refraction, intraocular lens power, preoperative and postoperative visual acuity, visual prognosis according to the operative methods using one way ANOVA statistically, and postoperative complications. RESULTS: The range of age at the time of operation was 5~51 years old (mean age 19.4 years old). 6 men, 7 women, 9 had family history. Decreased visual acuity (8 patients) was the main cause to visit hospital, and the knitting the brow (4), the discovery during routine ocular examination (3), strabismus (2), the difficulty in near work (2), monoocular diplopia (1). The ranges of preoperative best corrected visual acuity were 0.01 to 0.3. Postoperative visual acuity was 0.15 to 0.9. In all cases visual acuities increased. High myopia (more than .6 diopter) was seen in 13 eyes, but the ranges of the axial length were normal. The operation was performed with pas plana approach in 7 eyes, by extracapsular cataract extraction in 12 eyes, and by intracapsular cataract extraction in 5 eyes. Intraocular lenses were inserted in 16 eyes. No statistically differences were seen in postoperative best-corrected visual acuity. Preretinal hemorrhages was seen in only one eye postoperatively, soon disappeared and other complications was not seen. CONCLUSIONS: The most common cause of operation in ectopia lentis was the decreased visual acuity. The cause of high myopia in ectopia lentis was spherophakia due to zonulysis, not axial myopia. The visual prognosis was good in all patients, and no differences was seen respective of operation methods.
Cataract Extraction ; Diplopia ; Ectopia Lentis* ; Female ; Hemorrhage ; Humans ; Lenses, Intraocular ; Male ; Marfan Syndrome* ; Medical Records ; Myopia ; Postoperative Complications ; Prognosis* ; Retrospective Studies ; Strabismus ; Visual Acuity