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.

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Citation: Circulation. Cardiovascular Genetics. 10(3), 2017 JunPMID: 28600386Institution: MedStar Heart & Vascular InstituteForm of publication: Journal ArticleMedline article type(s): Journal ArticleSubject headings: *Marfan Syndrome/di [Diagnosis] | *Registries | Adolescent | Adult | Age Factors | Aged | Aged, 80 and over | Aortic Aneurysm/et [Etiology] | Aortic Diseases/ep [Epidemiology] | Aortic Diseases/su [Surgery] | Aortic Valve/su [Surgery] | Cardiovascular Diseases/co [Complications] | Child | Child, Preschool | Cohort Studies | Female | Heart Defects, Congenital/su [Surgery] | Heart Valve Diseases/su [Surgery] | Humans | Infant | Male | Marfan Syndrome/co [Complications] | Middle Aged | National Heart, Lung, and Blood Institute (U.S.) | Phenotype | Sex Factors | United States | Young AdultYear: 2017ISSN:
  • 1942-3268
Name of journal: Circulation. Cardiovascular geneticsAbstract: 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.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.Copyright � 2017 American Heart Association, Inc.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.All authors: Asch FM, Devereux RB, Eagle KA, GenTAC Investigators*, Holmes KW, LeMaire SA, Maslen CL, Milewicz DM, Morris SA, Prakash SK, Preiss LR, Pyeritz RE, Ravekes WJ, Roman MJ, Shohet RV, Song HK, Weinsaft JWFiscal year: FY2017Digital Object Identifier: Date added to catalog: 2017-06-16
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Journal Article MedStar Authors Catalog Article 28600386 Available 28600386

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.

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.

Copyright � 2017 American Heart Association, Inc.

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.

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