Aortic disease evolution relates to AIx@HR75 and CPP in Marfan like syndromes. Larger studies with comprehensive clinical and echocardiographic follow-up over long time intervals will be required to establish APT for prediction of aortic disease evolution in Marfan-like syndromes.

Marfan syndrome (MFS) is a disorder of the connective tissue that is inherited in an autosomal dominant fashion and that is classically caused by mutations in the gene coding for fibrillin-1, FBN1. The high mortality of untreated MFS results almost exclusively from aortic complications such as aortic dissection and rupture. However, more than half of patients with Marfan-like features do not have MFS, but have other diseases including inherited aortic aneurysms and dissections (TAAD). We elucidate the increasing spectrum of syndromes associated with Marfan-like features and discuss the clinical implications of these diseases. We performed a systematic review to tabulate all known inherited diseases and syndromes carrying a risk for thoracic aortic disease. We discuss evidence that different syndromes with different causative genes and mutations have different prognoses and profiles of cardiovascular manifestations. We conclude that future decisions for optimized management of patients with inherited TAAD require a comprehensive clinical and genetic work-up.

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Marfan syndrome is a genetic disorder with autosomal dominant inheritance. It is caused by mutations in the fibrillin-1 gene and leads to different disease manifestations. Seventy-five percent of the affected individuals develop an aneurysm of the ascending aorta, 41 % suffer from aortic dissections, and 93 % die of cardiovascular diseases. Skeletal changes occur in two-thirds of the patients, and lens dislocation is observed in 60 to 80 %. Without treatment, the life expectancy is 32 +/- 16 years. However, Marfan patients can live up to 60 years if they receive optimal therapy. Early diagnosis of the disease and it 's life-threatening sequelae is the prerequisite for early therapy. Radiologic diagnostic techniques are of pivotal importance in this context as they allow the identification of major and minor disease manifestations and the detection of severe dilatations and aortic dissections at an early stage. This overview describes the radiologically detectable multiple changes seen in Marfan syndrome and explains the diagnostic value of various imaging techniques in the diagnosis and therapy of Marfan syndrome.

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