Associations of Age and Sex With Marfan Phenotype

Abstract

Background The associations of age and sex with phenotypic features of Marfan syndrome have not been systematically examined in a large cohort of both children and adults. Methods and Results We evaluated 789 Marfan patients enrolled in the NHLBI GenTAC Registry (53% male; mean age 31 [range: 1–86 years]). Females aged≥15 and males aged≥16 years were considered adults based on average age of skeletal maturity. Adults (n=606) were more likely than children (n=183) likely to have spontaneous pneumothorax, scoliosis, and striae, but were comparable in revised Ghent systemic score, ectopia lentis, and most phenotypic features, including prevalence of aortic root dilatation. Prophylactic aortic root replacement and mitral valve surgery were rare during childhood vs. adulthood (2 vs. 35% and 1 vs. 9%, respectively, both p<0.0001). Adult males were more likely than females to have aortic root dilatation (92 vs. 84%), aortic regurgitation (55 vs. 36%) and to have undergone prophylactic aortic root replacement (47 vs. 24%), all p<0.001. Prevalence of prior aortic dissection tended to be higher in males than females (25 vs. 18%, p=0.06); 44% of dissections were type B. Type B dissection was strongly associated with previous prophylactic aortic root replacement. Conclusions Pulmonary, skeletal and aortic complications, but not other phenotypic features, are more prevalent in adults than children in Marfan syndrome. Aortic aneurysms and prophylactic aortic surgery are more common in men. Aortic dissection, commonly type B, occurs in an appreciable proportion of Marfan patients, especially in men and following previous prophylactic aortic root replacement.

Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review

“…The reported prevalence of aortic root dilatation is slightly lower in children compared to adults (approx. 80% vs. 90%) [ 9 , 10 ]. Furthermore, data from the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) registry indicate that adult males are more likely than females to have aortic root dilatation (92% vs. 84%), aortic regurgitation (55% vs. 36%), and to have undergone prophylactic aortic root replacement (47% vs. 24%) [ 10 ].…”

“…80% vs. 90%) [ 9 , 10 ]. Furthermore, data from the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) registry indicate that adult males are more likely than females to have aortic root dilatation (92% vs. 84%), aortic regurgitation (55% vs. 36%), and to have undergone prophylactic aortic root replacement (47% vs. 24%) [ 10 ]. Increased awareness, early detection, careful follow-up, life-style adjustments, pharmacological treatment and prophylactic surgery are currently established as the cornerstones of treatment in MFS.…”

Prosthetic aortic graft replacement of the ascending thoracic aorta alters biomechanics of the native descending aorta as assessed by transthoracic echocardiography

“…ultimately respond differently to altered distending forces induced by a prosthetic graft, resulting in differences in clinical outcomes. Further longitudinal research in larger cohorts is needed to test these concepts [3][4][5][6][7][8].…”

“…Prosthetic graft replacement is a well-established interventional therapy for patients with ascending thoracic aortic aneurysms (AA), in whom it provides potential lifesaving benefits and is recommended by consensus guidelines [1,2]. While graft replacement eliminates risk for dilatation or dissection in surgically replaced regions, event risk persists in non-grafted areasespecially in patients with genetically associated aortopathies [3][4][5][6][7]. Nearly 50% of type B dissections in patients with Marfan syndrome occur in context of prior prophylactic graft surgery [5,6].…”

“…While graft replacement eliminates risk for dilatation or dissection in surgically replaced regions, event risk persists in non-grafted areasespecially in patients with genetically associated aortopathies [3][4][5][6][7]. Nearly 50% of type B dissections in patients with Marfan syndrome occur in context of prior prophylactic graft surgery [5,6]. Patients with bicuspid aortic valve are also at increased risk for recurrent clinical events, including re-operation after initial aortic valve replacement and/or prophylactic graft surgery [7,8].…”