With a goal to do study on clinical characteristics, experiments and determination of treatment method for Marfan's syndrome, the author has conducted research in 2 group patients (with 84 eyes) of which male patients account for 59.22% and female patients account for 40.78%. From the study results, we see clearly those two groups of symptoms that often had changes in shape and abnormal appearing in eyes (100%). The disorder of cardiovascular system is less seen (14.28%). For treatment, drug therapy was applied in 29.76% cases and surgical intervention: 70.24%. In which the lentectomy: 69.49%, the extraction surgery of dislocated lens. That has very encouraging results, however the further study is needed
Marfan Syndrome ; Cardiovascular Diseases ; diagnosis ; therapeutics

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*

Thoracic aortic enlargement is a silent, but deadly, disease that is often diagnosed on imaging studies performed for unrelated indications and result in life threatening event such as aortic rupture and dissection. The etiologies underlying thoracic aortic enlargement are diverse and can range from degenerative or hypertensive aortic enlargement to more rare genetic disorders including Marfan syndrome and Loeys-Dietz syndrome. Therefore, the diagnosis and management of this disease can be complex. This review focuses on the periodic surveillance using imaging modality before surgical intervention and medical management of asymptomatic patients with thoracic aortic aneurysm.
Aortic Aneurysm, Thoracic* ; Aortic Rupture ; Diagnosis ; Humans ; Loeys-Dietz Syndrome ; Marfan Syndrome ; Medication Therapy Management

Due to its low prevalence and because there is lack of awareness about it, Loeys-Dietz syndrome is often mis-diagnosed as Marfan syndrome, which has similar skeletal abnormalities and aortic pathology. However, the differential diagnosis between these two connective tissue diseases is critical because they correspond to different surgical indications and surgical decision-making. We report two cases of successful thoracoabdominal aortic replacement in patients with previously undiagnosed Loeys-Dietz syndrome.
Aortic Aneurysm ; Connective Tissue Diseases ; Diagnosis, Differential ; Humans ; Loeys-Dietz Syndrome* ; Marfan Syndrome ; Pathology ; Prevalence

To know the causes and visual prognosis of ectopia lentis in children, medical records of 41 patients (82 eyes) were retrospectively analysed.The patients were divided into systemic disease-associated, simple, and familial types according to the causes and directions of lens deviation were compared.Surgical methods, pre-and post-operative corrected vision, and complications were investigated. The mean age at diagnosis was 45/12 years old. The decreased vision (87%) and the presence of family history (7.3%) werethe chief complaints on the first examination. According to the causes, 19patients had Marfan syndrome, 14 simple type, and 8 familial type respectively. The directions of lens deviation in Marfan syndrome were different from in simple and familial types. Surgical management have been per-formed in twenty-six patients (44 eyes) on the average 6years of age, and all but one showed an improvement of postoperative corrected vision. One eye presented a dyscoria as a complication. These results are the first report in Korea about the causes and the visual prognosis of ectopia lentis in children and may give us a reference for further management of these patients.
Child* ; Diagnosis ; Ectopia Lentis* ; Humans ; Korea ; Marfan Syndrome ; Medical Records ; Prognosis ; Retrospective Studies

Adolescent ; Adult ; Female ; Fibrillins ; Humans ; Male ; Marfan Syndrome ; diagnosis ; genetics ; Microfilament Proteins ; genetics ; Young Adult

OBJECTIVESTo analyze the FBN1 mutations in Chinese patients with Marfan syndrome (MFS) and to make a genetic diagnosis based on haplotype linkage analysis for MFS.

METHODSNine MFS families (17 patients) were analyzed with single strand conformation polymorphism (SSCP) and sequencing. Four primers were designed for the flanking sequences of FBN1 gene and used for haplotype-segregation analysis of MFS(B).

RESULTSSSCP band alteration was detected in the PCR products for exon 25 in MFS(A) II:1. Direct sequencing revealed a small 13 bp deletion; the deleted sequence is gccTc Tgcaccca at bases 3243-3456 of the cDNA in exon 25. This mutation was novel. MFS(B) families were analyzed using the haplotype linkage technique. The data suggested that MFS(B) families were linked to the FBN1 gene. The proband's daughter was an asymptomatic patient.

CONCLUSIONThe combination of mutation detection and chromosome haplotype analysis can provide better evidence for a genetic diagnosis of MFS.

Fibrillin-1 ; Fibrillins ; Genetic Linkage ; Haplotypes ; Humans ; Marfan Syndrome ; diagnosis ; genetics ; Microfilament Proteins ; genetics ; Mutation ; Polymorphism, Single-Stranded Conformational

PURPOSE: To analyze the clinical features and the long term visual results of children with ectopia lentis after lensectomy. METHODS: Enrolled in this study were 79 eyes of 43 patients who were operated on and followed up for at least 3 years. We performed a retrospective analysis of the patient records. RESULTS: The mean age at diagnosis was 4.6 years, mean age at surgery was 5.7 years and average follow-up was 7.1 years. Of the 43 patients with bilateral ectopia lentis, 7 underwent monocular surgery. The mean age at diagnosis was higher and mean postoperative BCVA was significantly lower in the monocular surgery group than in the binocular surgery group. All eyes showed reduced hyperopia for 5 years postoperatively, but the reduction rate of the monocular operated eyes was significantly lower than that of the binocular operated eyes (P<0.05). No complication occurred during surgery and 1 eye (1.3%) with Marfan syndrome showed retinal detachment 9 years after surgery. CONCLUSIONS: Surgical treatment of ectopia lentis was safe and showed good visual outcomes after 7.1 years of follow-up. Nevertheless, consideration must be given to the possibility of amblyopia due to the difference of the degree of dislocation between the two eyes.
Amblyopia ; Child* ; Diagnosis ; Dislocations ; Ectopia Lentis* ; Follow-Up Studies ; Humans ; Hyperopia ; Marfan Syndrome ; Retinal Detachment ; Retrospective Studies ; Telescopes

Superior mesenteric artery aneurysm is very rare complication of Marfan syndrome, especially in children. A 11 years old male patient was admitted to the hospital because of fluctuating high fever and diagnosed as infective endocarditis and Marfan syndrome. During antibiotics therapy, fever was slowly decreased but abdominal pain was developed and pulsatile abdominal mass was palpable in the midline of the abdomen. And the diagnosis was made as superior mesenteric artery aneurysm by ultrasonogaphy and abdominal aortogram. Resection of aneurysm was performed successfully. A brief review of the related literatures was made.
Abdomen ; Abdominal Pain ; Aneurysm* ; Anti-Bacterial Agents ; Child ; Diagnosis ; Endocarditis ; Fever ; Humans ; Hyperthermia, Induced ; Male ; Marfan Syndrome* ; Mesenteric Artery, Superior*

Superior mesenteric artery aneurysm is very rare complication of Marfan syndrome, especially in children. A 11 years old male patient was admitted to the hospital because of fluctuating high fever and diagnosed as infective endocarditis and Marfan syndrome. During antibiotics therapy, fever was slowly decreased but abdominal pain was developed and pulsatile abdominal mass was palpable in the midline of the abdomen. And the diagnosis was made as superior mesenteric artery aneurysm by ultrasonogaphy and abdominal aortogram. Resection of aneurysm was performed successfully. A brief review of the related literatures was made.
Abdomen ; Abdominal Pain ; Aneurysm* ; Anti-Bacterial Agents ; Child ; Diagnosis ; Endocarditis ; Fever ; Humans ; Hyperthermia, Induced ; Male ; Marfan Syndrome* ; Mesenteric Artery, Superior*