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.
Mary J. Roman,Richard B. Devereux,Liliana Preiss,Federico M. Asch,Kim A. Eagle,Kathryn W. Holmes,Scott A. LeMaire,Cheryl L. Maslen,Dianna M. Milewicz,Shaine A. Morris,Shaine A. Morris,Siddharth K. Prakash,Reed E. Pyeritz,William Ravekes,Ralph V. Shohet,Howard K. Song,Jonathan W. Weinsaft +16 more
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TLDR
In this paper, 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, and the authors 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]).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 P 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.read more
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Consideration of Sex Differences in Design and Reporting of Experimental Arterial Pathology Studies—Statement From ATVB Council
Peggy Robinet,Dianna M. Milewicz,Lisa A. Cassis,Nicholas J. Leeper,Hong Lu,Jonathan D. Smith +5 more
TL;DR: In this article, the authors suggest guidelines for designing and reporting sex as a biological variable in animal models of atherosclerosis, thoracic and abdominal aortic aneurysms, and peripheral arterial disease.
Journal ArticleDOI
Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome.
Norifumi Takeda,Ryo Inuzuka,Sonoko Maemura,Hiroyuki Morita,Kan Nawata,Daishi Fujita,Yuki Taniguchi,Haruo Yamauchi,Hiroki Yagi,Masayoshi Kato,Hiroshi Nishimura,Yoichiro Hirata,Yuichi Ikeda,Hidetoshi Kumagai,Eisuke Amiya,Hironori Hara,Takayuki Fujiwara,Hiroshi Akazawa,Junichi Suzuki,Yasushi Imai,Ryozo Nagai,Shinichi Takamoto,Yasunobu Hirata,Minoru Ono,Issei Komuro +24 more
TL;DR: DN-CD+HI patients should be monitored more carefully than DN-nonCD patients for rapid development of aortic root aneurysms and those with variants affecting or creating Cysteine residues and in-frame Deletion variants in exons 25–36 and 43–49 had a 6.3-fold higher risk.
Journal ArticleDOI
Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome
Caitlin J. Bowen,Caitlin J. Bowen,Juan Francisco Calderón Giadrosic,Zachary Burger,Graham Rykiel,Elaine C. Davis,Mark R. Helmers,Kelly S. Benke,Elena Gallo MacFarlane,Harry C. Dietz,Harry C. Dietz +10 more
TL;DR: Evidence is provided that targetable signaling abnormalities contribute to the pathogenesis of vEDS, highlighting unanticipated therapeutic opportunities and providing evidence that pregnancy- and puberty-associated accentuation of vascular risk is rescued by attenuation of oxytocin and androgen signaling.
Journal ArticleDOI
Sex Chromosome Complement Defines Diffuse Versus Focal Angiotensin II–Induced Aortic Pathology
Yasir Alsiraj,Sean E. Thatcher,Eric M. Blalock,Bradley S. Fleenor,Alan Daugherty,Lisa A. Cassis +5 more
TL;DR: An XY sex chromosome complement mediates diffuse aortic pathology, whereas an XX sex chromosomes complement contributes to focal AngII-induced AAAs.
Journal ArticleDOI
Causes of Mortality in the Marfan Syndrome(from a Nationwide Register Study).
Kristian A. Groth,Kirstine Stochholm,Hanne Hove,Niels Holmark Andersen,Claus Højbjerg Gravholt +4 more
TL;DR: Evaluating mortality in a nationwide Danish MFS population diagnosed by the Ghent II criteria found no indication that MFS is associated with increased mortality for other reasons, and a significantly decreased lifespan.
References
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Journal ArticleDOI
The revised Ghent nosology for the Marfan syndrome
Bart Loeys,Harry C. Dietz,Alan C. Braverman,Bert Callewaert,Julie De Backer,Richard B. Devereux,Yvonne Hilhorst-Hofstee,Guillaume Jondeau,Laurence Faivre,Dianna M. Milewicz,Reed E. Pyeritz,Paul D. Sponseller,Paul Wordsworth,Anne De Paepe +13 more
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TL;DR: The Marfan syndrome is a dominantly inherited disorder of connective tissue with multisystem involvement and the cardiac complications, particularly aortic dilatation, dissection and rupture ...
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Peter Beighton,A. De Paepe,David M. Danks,G. Finidori,T. Gedde-Dahl,R. M. Goodman,Judith G. Hall,David W. Hollister,William A. Horton,Victor A. McKusick,John M. Opitz,F. M. Pope,Reed E. Pyeritz,David L. Rimoin,David Sillence,J. Spranger,Elizabeth Thompson,Petros Tsipouras,Denis Viljoen,Ingrid Winship,I. D. Young,James F. Reynolds +21 more
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David I. Silverman,Kevin J. Burton,Jonathon Gray,Matthew S. Bosner,Nicholas T. Kouchoukos,Mary J. Roman,Maureen Boxer,Richard B. Devereux,Petros Tsipouras +8 more
TL;DR: Life expectancy for patients with the Marfan syndrome has increased > 25% since 1972, and reasons for this dramatic increase may include an overall improvement in population life expectancy, benefits arising from cardiovascular surgery, and greater proportion of milder cases due to increased frequency of diagnosis.
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