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2.1.9 Marfan syndrome and aortic diseases determined genetically
Yskert von Kodolitsch, Tilo Kölbel, Sebastian Debus
2.1.9.1 Clinical pictures and epidemiology
Marfan syndrome is an autosomal-dominant hereditary disease of connective tissue that occurs in one per 10,000 of the population. The disease is caused by mutations in the fibrillin-1 gene (FNB1), which is located in chromosome region 15q21.1 and codes for an important microfibril in connective tissue. The changes in the connective tissue caused by this mutation lead to a risk of early death due to rupture or acute dissection of the aorta, particularly in the area of the aortic root. Marfan syndrome is by far the most frequent genetically determined disease of the aorta and is regarded as a model disease for a wide range of genetically determined aortic diseases that continue to be newly identified (von Kodolitsch and Robinson 2007). This section presents the clinical findings, differential diagnoses, diagnosis and treatment of Marfan syndrome and discusses common features and differences in comparison with other genetically determined aortic diseases.
2.1.9.2 Clinical findings
The prognosis and course of Marfan syndrome are mainly determined by the aortic condition. Untreated patients mainly die due to dissection or rupture of the aorta. With comprehensive care in Marfan centers, the mean life expectancy has increased from only 32 years to over 60 years. By avoiding cardiovascular, orthopedic, and ophthalmologic complications, the patients’ life expectancy and probably also their quality of life can be improved as long as their ability to work and maintain independence are preserved (Silverman et al. 1995; von Kodolitsch et al. 2002; Manow et al. 2010).
Marfan syndrome represents a multiple-system disease. Typical symptoms of the syndrome are above all skeletal changes such as gigantism, altered physical proportions with a comparatively short trunk and long lower and upper limbs, scoliosis and pectus carinatum or pectus excavatum (Figs. 2.1-18 and 2.1-19). Ophthalmological manifestations include lens luxation, myopia, amblyopia, strabismus, secondary glaucoma development and retinal detachment, which can lead to severe visual impairment or complete blindness. Involvement of pulmonary structures can lead to the development of emphysema with acute pneumothorax. Another typical manifestation is dural ectasia, which often causes chronic back pain and can lead to complications in peridural anesthesia or spinal surgery; it can also cause characteristic orthostatic headache as a result of rare dural fistula formation. Hernia formation is observed more often in Marfan patients than in the general population (Sheikhzadeh et al. 2011a). Skin changes are usually only seen in the form of clinically “harmless” striae cutis distensae, although these are quite typical in congenital connective-tissue diseases (Fig. 2.1-19 and 2.1–20).
Fig. 2.1–18a-d Typical clinical signs of Marfan syndrome. (a) The Steinberg thumb sign is positive if the entire thumbnail extends beyond the ulnar edge of the hand when the thumb is bent over (De Paepe et al. 1996). (b) The hand joint sign or Murdoch sign is positive if the thumb overlaps the terminal phalange of the fifth finger when grasping the contralateral wrist (De Paepe et al. 1996). (c) A patient with severe skeletal involvement in Marfan syndrome, with marked scoliosis, asymmetric chest and sternal deformity, which had already led to impaired respiration. (d) The simple pes planus shown here can be scored according to the recent Ghent classification; talipes valgus, which is given two points on the scale, is not present here (Loeys et al. 2010).
With the improved prognosis for patients with Marfan syndrome, a number of additional health problems have emerged. These include ventricular cardiac arrhythmia with sudden cardiac death, mitral insufficiency, endocarditis, sleep apnea syndrome and terminal heart failure (von Kodolitsch et al. 2008).
Fig. 2.1–19a, b The frequency of typical