Marfan syndrome: what internists and pediatric or adult cardiologists need to know

Kaemmerer, Harald; Oechslin, Erwin; Seidel, Heide; Neuhann, Thomas; Neuhann, Irmingard M.; Mayer, H. M.; Hess, John

doi:10.1586/14779072.3.5.891

Cited by 13 publications

(7 citation statements)

References 127 publications

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“…Kaemmerer et al . reported that approximately 25% of Marfan syndrome patients have no family history of the syndrome and that they represent sporadic cases due to new mutations 22 . We did not find abnormalities in the FBN1 gene in DNA analysis, but this was not sufficient to completely rule out Marfan syndrome.…”

Section: Discussioncontrasting

confidence: 53%

“…20 Kaemmerer et al reported that approximately 25% of Marfan syndrome patients have no family history of the syndrome and that they represent sporadic cases due to new mutations. 22 We did not find abnormalities in the FBN1 gene in DNA analysis, but this was not sufficient to completely rule out Marfan syndrome. Lin et al reported that patients with Turner's syndrome with dissection of the aorta often exhibited pathological evidence of cystic medial necrosis similar to findings in patients with Marfan syndrome.…”

Section: Discussionmentioning

confidence: 71%

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Sudden death of a young woman due to aortic dissection caused by Turner's syndrome

Mimasaka

Ohtsu

Tsunenari

et al. 2007

Pathology International

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A 24-year-old woman was found dead in her bed. There had been an episode of fainting with cervicodynia 1 day before death but no significant past medical history, except for menstrual irregularities. Post-mortem examination revealed that death was due to hemopericardium caused by rupture of the ascending aorta by thoracic aortic dissection (Stanford type A). Microscopically, weakness of the aorta was due to cystic medial necrosis. On external examination, short stature, a short neck and multiple pigmented nevi were observed, while internal examination revealed coarctation of the aorta and funicular ovaries. Examination of the X chromatin showed a decrease in numbers of Barr bodies in the tissues, and a 45,X/46,XX mosaicism was suspected. It is concluded that the cause of death was aortic dissection due to Turner's syndrome.

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Section: Discussioncontrasting

confidence: 53%

Section: Discussionmentioning

confidence: 71%

Sudden death of a young woman due to aortic dissection caused by Turner's syndrome

Mimasaka

Ohtsu

Tsunenari

et al. 2007

Pathology International

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“…The LV and mitral valve can be assessed by either echo or MRI. It is important to check for aortic dissection, which may be small and focal [35]. MRI of the lumbosacral spine may be used to identify dural ectasia [36].…”

Section: Marfan Syndromementioning

confidence: 99%

Imaging congenital heart disease in adults

Kilner¹

2011

BJR

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ABSTRACT. Transthoracic echocardiography is the first-line modality for cardiovascular imaging in adults with congenital heart disease (ACHD). The windows of access that are possible with transthoracic echocardiography are, however, rarely adequate for all regions of interest. The choice of further imaging depends on the clinical questions that remain to be addressed. The strengths of MRI include comprehensive access and coverage, providing imaging of all parts of the right ventricle, the pulmonary arteries, pulmonary veins and aorta. Cine images and velocity maps are acquired in specifically aligned planes, with stacks of cines or dynamic contrast angiography providing more comprehensive coverage. Tissues can be characterised if necessary, and MRI provides relatively accurate measurements of biventricular function and volume flow. These parameters are important in the assessment and follow-up of adults after repairs for tetralogy of Fallot or transposition of the great arteries and after Fontan operations. The superior spatial resolution and rapid acquisition of CT are invaluable in selected situations, including the visualisation of anomalous coronary or aortopulmonary collateral arteries, the assessment of luminal patency after stenting and imaging in patients with pacemakers. Ionising radiation is, however, a concern in younger patients who may need repeated investigation. Adults with relatively complex conditions should ideally be imaged in a specialist ACHD centre, where dedicated echocardiographic and cardiovascular MRI services are a necessary facility. General radiologists should be aware of the nature and pathophysiology of congenital heart disease, and should be alert for previously undiagnosed cases presenting in adulthood, including cases of atrial septal defect, aortic coarctation, patent ductus arteriosus, double-chambered right ventricle and congenitally corrected transposition.

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“…The most severe complications from a medical perspective include aneurysm formation and dissection of the aorta. Consequently, most patients are closely monitored, with serial cardiovascular assessments from early childhood (2)(3)(4)(5). Additionally, patients with MFS often have to cope with skeletal or ocular abnormalities leading to a characteristic appearance, which is not only subjectively perceived by themselves, but is also visible to others (6,7).…”

Section: Introductionmentioning

confidence: 99%

Quality of life in patients with Marfan syndrome: a cross-sectional study of 102 adult patients

Andonian

Freilinger

Achenbach

et al. 2021

Cardiovasc Diagn Ther

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Background: Marfan syndrome (MFS) is a genetically determined multiorgan disease that leads to severe physiological and psychological impairments in adult life. Little consensus exists regarding quality of life (QOL) in individuals with MFS. The present study sought to investigate QOL in a representative cohort of adults with MFS.Methods: Patient-reported outcome measures from a representative sample of 102 adults with MFS (39.3±13.1 years of age; 40.2% female) were retrospectively analyzed and compared with those from adults with different congenital heart defects (CHD), at the German Heart Center Munich. QOL was assessed using the updated five-level version of the EQ-5D.Results: Differences between both populations were analyzed. Subjects affected by MFS reported an overall reduced QOL. Compared to CHD patients, individuals with MFS scored significantly lower in the dimensions of pain/discomfort, anxiety/depression, mobility and usual activities (P<0.05).Conclusions: Patients with MFS are at high risk for impaired QOL, especially in mental and physical domains. Psychosocial consequences of MFS cost resources for both, patients and professionals. Current findings highlight the great importance of additional psychological support to cope with disease-related challenges. Increased attention should be directed towards enhancing their subjective wellbeing to potentially improve their QOL and long-term health outcomes.

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Marfan syndrome: what internists and pediatric or adult cardiologists need to know

Cited by 13 publications

References 127 publications

Sudden death of a young woman due to aortic dissection caused by Turner's syndrome

Sudden death of a young woman due to aortic dissection caused by Turner's syndrome

Imaging congenital heart disease in adults

Quality of life in patients with Marfan syndrome: a cross-sectional study of 102 adult patients

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