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Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001647. doi: 10.1161/CIRCGENETICS.116.001647.

Associations of Age and Sex With Marfan Phenotype: The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry.

Author information

1
From the Division of Cardiology, Weill Cornell Medicine, New York, NY (M.J.R., R.B.D., J.W.W.); Biostatistics and Epidemiology Division, RTI International, Rockville, MD (L.R.P.); MedStar Cardiovascular Research Network, Washington, DC (F.M.A.); Division of Cardiology, University of Michigan Health System, Ann Arbor (K.A.E.); Department of Pediatrics (K.W.H.), Division of Cardiothoracic Surgery (H.K.S.), and Knight Cardiovascular Institute (C.L.M.), Oregon Health & Science University, Portland; Division of Cardiothoracic Surgery (S.A.L.) and Division of Pediatric Cardiology, Department of Pediatrics (S.A.M.), Baylor College of Medicine, Houston, TX; Department of Cardiovascular Surgery, Texas Heart Institute, Houston (S.A.L.); Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, San Antonio (D.M.M., S.K.P.); Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.E.P.); Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD (W.J.R.); and Department of Medicine, John A. Burns School of Medicine, Honolulu, HI (R.V.S.). mroman@med.cornell.edu.
2
From the Division of Cardiology, Weill Cornell Medicine, New York, NY (M.J.R., R.B.D., J.W.W.); Biostatistics and Epidemiology Division, RTI International, Rockville, MD (L.R.P.); MedStar Cardiovascular Research Network, Washington, DC (F.M.A.); Division of Cardiology, University of Michigan Health System, Ann Arbor (K.A.E.); Department of Pediatrics (K.W.H.), Division of Cardiothoracic Surgery (H.K.S.), and Knight Cardiovascular Institute (C.L.M.), Oregon Health & Science University, Portland; Division of Cardiothoracic Surgery (S.A.L.) and Division of Pediatric Cardiology, Department of Pediatrics (S.A.M.), Baylor College of Medicine, Houston, TX; Department of Cardiovascular Surgery, Texas Heart Institute, Houston (S.A.L.); Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, San Antonio (D.M.M., S.K.P.); Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.E.P.); Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD (W.J.R.); and Department of Medicine, John A. Burns School of Medicine, Honolulu, HI (R.V.S.).

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 National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) 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 versus adulthood (2% versus 35% and 1% versus 9%, respectively, both P<0.0001). Adult males were more likely than females to have aortic root dilatation (92% versus 84%), aortic regurgitation (55% versus 36%), and to have undergone prophylactic aortic root replacement (47% versus 24%), all P<0.001. Prevalence of previous aortic dissection tended to be higher in males than females (25% versus 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 after previous prophylactic aortic root replacement.

KEYWORDS:

Marfan syndrome; adult; aneurysm; dilatation; prevalence

PMID:
28600386
PMCID:
PMC5500868
DOI:
10.1161/CIRCGENETICS.116.001647
[Indexed for MEDLINE]
Free PMC Article

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