Fig. 2.1–24 Diagram of the differential diagnosis in patients with thoracic aortic aneurysms and dissections (TAADs) with a suspected genetic background. The involvement of a specific gene regarded as being causative of TAADs in principle makes it possible to develop specific phenotypes, which are shown in the diagram under each gene. The arrangement of the various syndromes runs from left to right according to declining phenotypic similarity with Marfan syndrome, and on the right shows the TAADs that typically occur without any extravascular manifestations (von Kodolitsch and Robinson 2007). Abbreviations are explained in the text.
2.1.9.5 Treatment
Conservative treatment
The principles used in the medical management of Marfan syndrome have hardly changed during the last 25 years (Pyeritz and McKusick 1979). From the internal-medicine and cardiology point of view, there are five important measures (von Kodolitsch et al. 2008): 1, detailed consultation with the patient regarding lifestyle adjustments and planning for ways of living with moderate impairment of physical activities; 2, administering prophylactic antibiotic treatment against endocarditis; 3, serial cardiological examinations including tomographic assessment of the aorta and if appropriate serial ophthalmological and orthopedic check-ups; 4, prescribing a β-blocker for protection of the aorta; and 5, prophylactic replacement of the aortic root in accordance with the current criteria (Table 2.1-6).
Adults with Marfan syndrome should avoid emotional stress and dynamic exercise such as that involved in running, tennis or volleyball with preference for static exercise such as weightlifting, water-skiing or gymnastics, as dynamic exercise can lead to moderate blood-pressure increases. Contact sport and activities that lead to too-rapid acceleration or abrupt deceleration of movement sequences such as soccer, martial arts, or basketball should be avoided, as should scuba diving with oxygen apparatus or amateur flying in planes that lack pressurized cabins. However, diving with a snorkel and flying in pressurized commercial aircraft are possible without any problems. With regard to competitive sports, participation in billiards, cricket, curling, golf, bowling and sports shooting is possible. With children, the focus is on setting life goals for adulthood that take into account the impaired health resulting from Marfan syndrome, while strict bans on sports are not generally required (von Kodolitsch et al. 2008; von Kodolitsch and Rybczynski 2006). Detailed and individualized counseling for patients with Marfan syndrome is particularly important. In our view, this should include not only detailed discussions but also mention of published self-help guides for patients (Marfan Hilfe [Deutschland] e.V. 2007); information about the support provided by Marfan Hilfe Deutschland e.V. (see http://www.marfan.de/) has also proved helpful.
According to the current guidelines, endocarditis prophylaxis should only be considered if patients have already developed endocarditis or have received an artificial cardiac valve or have valvulopathy after heart transplantation (Wilson et al. 2007). Among 1000 patients with Marfan syndrome, 15 will develop mitral valve endocarditis up to the age of 35 and 84 will develop it by the age of 60 (Rybczynski 2010). The risk of endocarditis in Marfan patients is thus much higher than in patients with idiopathic mitral valve prolapse, for example (Avierinos et al. 2002). In the opinion of experts, endocarditis prophylaxis is therefore also indicated, in addition to the information given in the official guidelines, if the native cardiac valve shows signs of any dysfunction, frequently in the form of aortic or mitral valve insufficiency (von Kodolitsch et al. 2008).
Table 2.1–6 Classic principles of medical management in patients with Marfan syndrome (von Kodolitsch and Robinson 2007).
| General measures in adults with Marfan syndrome |
| Moderate restriction of physical activity |
| Endocarditis prophylaxis* |
| Echocardiography and MR angiography of the aorta at annual intervals |
| β-blockers to protect the aorta |
| Measures during family planning and pregnancy |
| Providing information about the 50% risk of inheritance of Marfan syndrome by children |
| High-risk pregnancy in patients with aortic root diameter > 40 mm or status post heart surgery and cases of severe heart disease |
| When pregnancy is planned in women with an aortic root diameter≥40 mm, prophylactic replacement of the aortic root should be carried out |
| Serial (e.g., 3-monthly) echocardiographic check-ups for up to 3 months after delivery |
| Indication for prophylactic replacement of the aortic root in adults (≥one criterion) |
| Aortic root diameter ≥ 45 mm |
| Aortic ratio ≥ 1.5 (normal size, i.e., 20–37 mm divided by actual measurement, corrected by age, gender and body surface area) |
| Ratio for diameter of aortic root and descending aorta ≥ 2 |
| Increase in diameter of aortic root ≥ 5 mm/year |
| Indication for prophylactic replacement of the aortic root in children |
| The operation should be delayed if possible until completion of growth |
| Assessment of the aortic root diameter is based on the criteria for adults |
| Aortic root diameters above the upper confidence intervals move further upward during the course of echocardiographic check-ups |
| Indication for mitral valve surgery |
| The indication is established in accordance with the current AHA recommendations |
* In addition to the indications given in the current AHA guideline recommendations, the view of experts is that endocarditis prophylaxis should be carried out in all Marfan patients in whom any relevant dysfunction of the natural cardiac valve has been diagnosed (von