Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by FBN1 gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.
Fibrillin-1/genetics* ; Humans ; Infant, Newborn ; Marfan Syndrome/therapy* ; Mutation

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

Annuloaortic ectasia, cystic medial degeneration of the afflicted aortic wall leading to progressive dilatation, is often accompanied by Marfan's syndrome. Some portions of intimal flap is commonly demonstrated along the aorta in the noninvasive diagnosis of aortic dissection. We report the first case of circumscribed aortic dissection developed in a 28 year old obese non-Marfanoid patient. He was transferred after thrombolytic therapy at a community hospital because of severe chest pain and ST segment elevation. Transthoracic echocardiography showed markedly dilated aortic root, moderate amount of pericardial effusion, mild aortic regurgitation in spite of normal regional wall motion of left ventricle. Intimal flap, characteristic of aortic dissection, was not seen with computed tomography. Intimal tear was demonstrated just above aortic valve only by transesophageal echocardiography. Two parallel intimal tear and small circumscribed dissection was demonstrated by autopsy.
Adult ; Aorta ; Aortic Valve ; Aortic Valve Insufficiency ; Autopsy ; Chest Pain ; Diagnosis ; Dilatation ; Dilatation, Pathologic* ; Echocardiography ; Echocardiography, Transesophageal ; Heart Ventricles ; Hospitals, Community ; Humans ; Marfan Syndrome ; Pericardial Effusion ; Thrombolytic Therapy

This study evaluated the efficacy of a stepwise regimen of estradiol valerate for height control in girls with Marfan syndrome. Eight girls with Marfan syndrome who had completed estrogen treatment for height control were included. Estradiol valerate was started at a dose of 2 mg/day, and then was increased. The projected final height was estimated using the initial height percentile (on a disease-specific growth curve for Korean Marfan syndrome [gcPFHt]), and the initial bone age (baPFHt). After the estrogen treatment, the projected final height was compared to the actual final height (FHt). The median baseline chronological and bone age were 10.0 and 10.5 years, respectively. After a median of 36.5 months of treatment, the median FHt (172.6 cm) was shorter than the median gcPFHt (181.0 cm) and baPFHt (175.9 cm). In the six patients who started treatment before the age of 11 years, the median FHt (171.8 cm) was shorter than the median gcPFHt (181.5 cm) and baPFHt (177.4 cm) after treatment. The median differences between the FHt and gcPFHt and baPFHt were 9.2 and 8.3 cm, respectively. In two patients started treatment after the age of 11, the differences between FHt and gcPFHt, and baPFHt after treatment were -4 and 1.4 cm, and -1.2 and 0 cm for each case, respectively. A stepwise increasing regimen of estradiol valerate may be an effective treatment for height control in girls with Marfan syndrome, especially when started under 11 years old.
Body Height ; Child ; Contraceptive Agents/*therapeutic use ; Estradiol/*analogs & derivatives/therapeutic use ; Female ; Growth Disorders/pathology ; Humans ; Marfan Syndrome/diagnosis/*drug therapy ; Treatment Outcome