BACKGROUND: Marfan syndrome (MFS) is the most common inherited disorder of connective tissue affecting multiple organ systems. The most life-threatening and life-shortening complication is aortic dissection. Without surgery, life expectancy of MFS patients is reduced to approximately 32 years. Early identification and appropriate multidisciplinary medical cooperation is essential. CONCLUSION: Proper follow up, therapy and timely surgical repair lead to an almost normal lifespan in affected individuals.
- MeSH
- aortální aneurysma diagnóza genetika MeSH
- disekce aorty diagnóza genetika MeSH
- genetické poradenství MeSH
- kardiovaskulární chirurgické výkony metody MeSH
- kardiovaskulární nemoci diagnóza etiologie genetika chirurgie MeSH
- kvalita života MeSH
- lidé MeSH
- Marfanův syndrom komplikace genetika MeSH
- naděje dožití MeSH
- následné studie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
The authors present cases on rare but serious complications in pregnancy and puerperium concerning women with cystic aorta medionecrosis, gallbladder carcinoma and Hodgkin lymphoma. They describe the prognosis of pregnant women and their newborns with oncological and non-oncological malignancies while stressing an individual approach.
- MeSH
- aneurysma hrudní aorty komplikace patologie MeSH
- cholecystektomie MeSH
- cysty komplikace patologie MeSH
- dospělí MeSH
- fatální výsledek MeSH
- Hodgkinova nemoc komplikace patologie MeSH
- koarktace aorty komplikace patologie MeSH
- krevní transfuze MeSH
- lidé MeSH
- Marfanův syndrom komplikace MeSH
- nádorové komplikace v těhotenství patologie MeSH
- nádory žlučníku komplikace patologie MeSH
- nekróza komplikace MeSH
- novorozenec MeSH
- pitva MeSH
- prenatální péče MeSH
- příčina smrti MeSH
- srdeční tamponáda komplikace MeSH
- těhotenství MeSH
- výsledek těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- novorozenec MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- MeSH
- bolesti na hrudi etiologie MeSH
- disekce aorty diagnostické zobrazování chirurgie MeSH
- dospělí MeSH
- echokardiografie transezofageální metody MeSH
- lidé MeSH
- Marfanův syndrom komplikace MeSH
- myxom diagnostické zobrazování MeSH
- nádory srdce diagnostické zobrazování MeSH
- radiografie MeSH
- srdeční síně diagnostické zobrazování MeSH
- trombóza diagnostické zobrazování chirurgie MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
The authors present the case report of a Marfan syndrome patient with aneurysm of ascending, dissecting aneurysm of descending and abdominal aorta. Ascending aorta replacement with aortic valve sparing procedure was performed at first surgery. Later on descending and abdominal aorta were replaced. The patient was reoperated because of a chylus collection in retroperitoneal space. Three months following surgery the patient is completely recovered.
- MeSH
- aortální aneurysma diagnostické zobrazování etiologie chirurgie MeSH
- cévy - implantace protéz MeSH
- disekce aorty diagnostické zobrazování etiologie chirurgie MeSH
- lidé MeSH
- Marfanův syndrom komplikace MeSH
- radiografie MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Aortal dissection belongs to the group of aortal diseases with a high mortality rate and varied clinical account. This disease does not appear very often and therefore it is often diagnosed late. Diagnostic and therapeutic developments have recently improved. Classification and indication criteria about prophylactic interventions on aorta have become more specific. It leads to the gradual decrease of mortality caused by this disease. Frequent accumulation of familiar aortal dissection was described. It can be important for the early identification of individuals at risk. In our casuistry we describe a family with the accumulation of aortal dissection coinciding with Marfan syndrome from the mother's side and the prevalence of this disease in siblings from their patient's father. The evident predisposition was not clearly demonstrated in these cases. We also examined and began to dispenser other members of the family but we did not find an evident predisposition factor. We would like to emphasize the importance of good interdisciplinary and institutional cooperation in diagnostic and treatment of this disease. Further we want to emphasize the contribution of careful sampling of familiar anamnesis in the cases stricken with the disease. We focused on sudden death. It is well known that the gene analysis may contribute to the identification of individuals at risk in these families. We do not have this possibility in our country now.
- MeSH
- aortální aneurysma komplikace genetika MeSH
- disekce aorty komplikace genetika MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- Marfanův syndrom komplikace genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- kazuistiky MeSH
The group of patients with the Marfan syndrome is used to suffer from aneurysm and dilatation of the ascendent aorta, therefore the reason echocardiography examination is necessary. But in spite of this, although the dimensions (measures) are stable, we do really not know when the dissection appeared. This complication is the most usual cause of death these patients. But if we recognize the diagnosis in time and if we treat it correctly, this complication can be treated with the great difference in mortality. That is while we must think of this possible complication in case of atypical breast ache. The following case describes the acute dissection of the aorta in the proximal and also descendent part together with the acute aortal significant regurgitation and the volume overload of the left chamber appeared on female--patient with the Marfan syndrome.
- MeSH
- akutní nemoc MeSH
- aneurysma hrudní aorty komplikace MeSH
- disekce aorty komplikace MeSH
- dospělí MeSH
- lidé MeSH
- Marfanův syndrom komplikace MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- kazuistiky MeSH
PURPOSE: Bilateral retinal detachment (RD) in Marfan's syndrome (MS) has a typical preoperative, operative, and post-operative course. This study describes symmetry of retinal tears and bilateral RD surgery in five MS patients over a period of 15 years. METHODS: Six eyes with uncomplicated RD were operated on using the scleral buckling procedure, and four eyes with complicated RD were operated using a pars plana vitrectomy (PPV) and inner retinal tamponade with silicon oil. RESULTS: Complete retinal reattachment was achieved in seven eyes. Partial anatomical success with attached macula was achieved in one eye. The surgery failed in two eyes. Final visual acuity was between 0.66 and 0.33 in three eyes, and between 0.25 and 0.1 in five; two eyes had no light perception. CONCLUSIONS: The course of the bilateral retinal disease highly correlated with the symmetry of retinal defects.
- MeSH
- bukláž skléry MeSH
- dospělí MeSH
- lidé MeSH
- Marfanův syndrom komplikace MeSH
- mladiství MeSH
- odchlípení sítnice etiologie chirurgie MeSH
- silikonové oleje aplikace a dávkování MeSH
- vitrektomie MeSH
- zraková ostrost MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- silikonové oleje MeSH
BACKGROUND: The presence of a rhegmatogenous retinal detachment in a patient with Marfan's syndrome is manifested by narrow pupils, dislocated lenses, and a spectrum of pathology ranging from simple holes to giant tears with or without proliferative vitreoretinopathy. PATIENTS AND METHODS: Thirteen patients (18 eyes) with Marfan's syndrome underwent surgery for retinal detachment. Characteristic findings were a retinal detachment in three or more quadrants (12 eyes), a single tear smaller than 30 degrees (eight eyes), a tear between 80 degrees and 120 degrees (five eyes), equatorial and postequatorial tears (11 eyes), and advanced proliferative vitreoretinopathy (seven eyes). Nine uncomplicated retinal detachments were managed with scleral buckling, and nine complicated retinal detachments were managed with pars plana vitrectomy, scleral buckling, and retinal tamponade, mostly with silicon oil. RESULTS: The results of surgery varied, depending on the nature of the retinal tear and the presence of proliferative vitreoretinopathy. Complete retinal reattachment was achieved in 89% of uncomplicated retinal detachments and in 56% of complicated retinal detachments. Additional partial anatomic success was achieved in two eyes with complicated retinal detachments where the macula was attached. Visual acuity improved significantly in five eyes with uncomplicated retinal detachments (median final vision, 20/80) and in six eyes with complicated retinal detachments (median final vision, 20/200). CONCLUSION: The results of surgical treatment for retinal detachments in patients with Marfan's syndrome were comparable with those in patients without Marfan's syndrome. In seven cases of retinal detachment in patients with Marfan's syndrome, we were able to reattach the retina without removing the dislocated intraocular lens.
- MeSH
- bukláž skléry * MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- Marfanův syndrom komplikace MeSH
- mladiství MeSH
- odchlípení sítnice komplikace patofyziologie chirurgie MeSH
- perforace sítnice komplikace chirurgie MeSH
- proliferativní vitreoretinopatie komplikace MeSH
- silikonové oleje aplikace a dávkování MeSH
- vitrektomie * MeSH
- výsledek terapie MeSH
- zraková ostrost fyziologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- silikonové oleje MeSH
The author describes three forms of Marfan's syndrome which have only the skeletal symptoms in common. In all instances also ophthalmological symptoms are present but of different types. A familial case was observed only in one family; in the remaining two frust forms of Marfan's syndrome are involved.
- MeSH
- dospělí MeSH
- homocystinurie komplikace genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- Marfanův syndrom komplikace genetika MeSH
- oční nemoci komplikace genetika MeSH
- rodokmen MeSH
- senioři MeSH
- subluxace oční čočky komplikace genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- kazuistiky MeSH
It is described the occurrence of dextrocardia together with the congenital cyanotic heart disease in 20 year old man included in the fruste forme of the Marfan's syndrome. The diagnosis was made by the physical examination with the evidence of the arachnodactyly by the metacarpal indices and confirmed by autopsy with the following results: dextrocardia, large atrial septal defect, common ventricle, atresia of the pulmonary artery with the collateral lung perfusion from the descending aorta. There were found neither ocular manifestations, nor unambiguous manifestations of the aortic lesions. The ultrastructural examinations showed only greater accumulation of the PAS positive substances. Dextrocardia as the cardiovascular manifestation of the Marfan's syndrome has not yet been reported in the available literature.
- MeSH
- dospělí MeSH
- lidé MeSH
- Marfanův syndrom komplikace diagnostické zobrazování patologie MeSH
- pitva MeSH
- radiografie MeSH
- srdce anatomie a histologie diagnostické zobrazování MeSH
- vrozené srdeční vady komplikace diagnostické zobrazování patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
