Echogenomics: Echocardiography in Heritable Aortopathies

Rooprai J, Coutinho T. Arterial stiffness and pulsatile hemodynamics in thoracic aortopathies. In: Chirinos J, editor. Textbook of Arterial Stiffness and Pulstile Hemodynamics in Health and Disease. Academic Press; 2022. p. 713–26.

Chapter  Google Scholar 

•• Isselbacher E, Preventza O, Hamilton Black J III, Augoustides J, Beck A, Bolen M, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022. https://doi.org/10.1161/CIR.0000000000001106. Updated 2022 ACC/AHA recommendations on evaluation, treatment, and intervention in patients with aortic disease including heritable aortopathies.

Article  PubMed  Google Scholar 

Fletcher AJ, Syed MB, Aitman TJ, Newby DE, Walker NL. Inherited thoracic aortic disease: new insights and translational targets. Circulation. 2020;141(19):1570–87. https://doi.org/10.1161/CIRCULATIONAHA.119.043756.

Article  PubMed  PubMed Central  Google Scholar 

• Milewicz DM, Braverman AC, De Backer JD, Morris SA, Boileau C, Maumenee IH, et al. Marfan syndrome. Nat Rev Dis Primers. 2021;7(64). https://doi.org/10.1038/2Fs41572-021-00298-7. A comprehensive and up to date review of the clinical features, pathophysiology, screening, and management of Marfan syndrome.

Luperchio T, Kozel B. Extending the spectrum in aortopathy: stenosis to aneurysm. Curr Opin Genet Dev. 2022;76:101962. https://doi.org/10.1016/j.gde.2022.101962.

Article  CAS  PubMed  Google Scholar 

Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol. 2010;25(6):546–51. https://doi.org/10.1097/HCO.0b013e32833f0220.

Article  PubMed  Google Scholar 

Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo R, Eggebrecht H, et al. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(41):2873–926. https://doi.org/10.1093/eurheartj/ehu281.

Article  PubMed  Google Scholar 

Lopez L, Colan S, Stylianou M, Granger S, Trachtenberg F, Frommelt P, et al. Relationship of echocardiographic Z scores adjusted for body surface area to age, sex, race, and ethnicity: the pediatric heart network normal echocardiogram database. Circ Cardiovasc Imaging. 2017;10(11). https://doi.org/10.1161/CIRCIMAGING.117.006979.

De Backer J. Connective tissue disorders. In: Lai W, Mertens L, Cohen M, Geva T, editors. Echocardiography in pediatric and congenital heart disease from fetus to adult. 2nd ed. Wiley; 2016. p. 624–40.

Chapter  Google Scholar 

Gravholt C, Andersen N, Conway G, Dekkers O, Geffner M, Klein K, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3):G1–70. https://doi.org/10.1530/EJE-17-0430.

Article  CAS  PubMed  Google Scholar 

Nollen G, Groenink M, Tijssen J, Van Der Wall E, Mulder B. Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome. Eur Heart J. 2004;25(13):1146–52. https://doi.org/10.1016/j.ehj.2004.04.033.

Article  PubMed  Google Scholar 

Tierney E, Levine J, Sleeper L, Roman M, Bradley T, Colan S, et al. Influence of aortic stiffness on aortic-root growth rate and outcome in patients with the Marfan syndrome. The Am J Cardiol. 2018;121(9):1094–101. https://doi.org/10.1016/j.amjcard.2018.01.016.

Article  Google Scholar 

Prakash A, Adlakha H, Rabideau N, Hass C, Morris S, Geva T, et al. Segmental aortic stiffness in children and young adults with connective tissue disorders: relationships with age, aortic size, rate of dilation, and surgical root replacement. Circulation. 2015;132(7):595–602. https://doi.org/10.1161/CIRCULATIONAHA.114.014934.

Article  CAS  PubMed  Google Scholar 

Akazawa Y, Motoki N, Tada A, Yamazaki S, Hachiya A, Matsuzaki S, et al. Decreased aortic elasticity in children with Marfan syndrome or Loeys-Dietz syndrome. Circ J. 2016;80(11):2369–75. https://doi.org/10.1253/circj.CJ-16-0739.

Article  PubMed  Google Scholar 

Cho J, Kim K. Evaluation of arterial stiffness by echocardiography: methodological aspects. Chonnam Med J. 2016;52(2):101. https://doi.org/10.4068/cmj.2016.52.2.101.

Article  ADS  PubMed  PubMed Central  Google Scholar 

Schäfer M, Browne L, Truong U, Jaggers J, Mitchell M, Malone L, et al. Aortic stiffness in adolescent Turner and Marfan syndrome patients. Eur J Cardiothorac Surg. 2018;54(5):926–32. https://doi.org/10.1093/ejcts/ezy168.

Article  PubMed  Google Scholar 

Merlocco A, Lacro R, Gauvreau K, Rabideau N, Singh M, Prakash A. Longitudinal changes in segmental aortic stiffness determined by cardiac magnetic resonance in children and young adults with connective tissue disorders (the Marfan, Loeys-Dietz, and Ehlers-Danlos syndromes, and nonspecific connective tissue disorders). Am J Cardiol. 2017;120(7):1214–9. https://doi.org/10.1016/j.amjcard.2017.06.064.

Article  PubMed  Google Scholar 

Rooprai J, Boodhwani M, Beauchesne L, Chan K, Dennie C, Nagpal S, et al. Thoracic aortic aneurysm growth in bicuspid aortic valve patients: role of aortic stiffness and pulsatile hemodynamics. J Am Heart Assoc. 2019;8(8):e010885. https://doi.org/10.1161/JAHA.118.010885.

Article  PubMed  PubMed Central  Google Scholar 

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–85. https://doi.org/10.1136/jmg.2009.072785.

Article  CAS  PubMed  Google Scholar 

Williams J, Loeys B, Nwakanma L, Dietz H, Spevak P, Patel N, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg. 2007;83(2):S757–63. https://doi.org/10.1016/j.athoracsur.2006.10.091.

Article  PubMed  Google Scholar 

MacCarrick G, Black J, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio P, Guerrerio A, et al. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med. 2014;16(8):576–87. https://doi.org/10.1038/gim.2014.11.

Article  PubMed  PubMed Central  Google Scholar 

Roman M, Rosen S, Kramer-Fox R, Devereux R. Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome. J Am Coll Cardiol. 1993;22(5):1470–6. https://doi.org/10.1016/0735-1097(93)90559-j.

Article  CAS  PubMed  Google Scholar 

Hascoet S, Edouard T, Plaisancie J, Arnoult F, Milleron O, Stheneur C, et al. Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome. Arch Cardiovasc Dis. 2020;113(1):40–9. https://doi.org/10.1016/j.acvd.2019.09.010.

Article  PubMed  Google Scholar 

Nollen G, van Schijndel K, Timmermans J, Groenink M, Barentsz J, van der Wall E, et al. Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion. Heart. 2002. https://doi.org/10.1136/heart.87.5.470.

Article  PubMed  PubMed Central  Google Scholar 

Stark V, Huemmer M, Olfe J, Mueller G, Kozlik-Feldmann R, Mir T. The pulmonary artery in pediatric patients with Marfan syndrome: an underestimated aspect of the disease. Pediatr Cardiol. 2018;39(6):1194–9. https://doi.org/10.1007/s00246-018-1880-1.

Article  PubMed  Google Scholar 

Connor B, Algaze C, Narkevičiūtė A, Anguiano B, Pariani M, Zarate Y, et al. Prevalence and outcomes of primary left ventricular dysfunction in Marfan syndrome. Am J Cardiol. 2022;175:119–26. https://doi.org/10.1016/j.amjcard.2022.04.012.

Article  PubMed  Google Scholar 

Lopez L, Colan S, Frommelt P, Ensing G, Kendall K, Younoszai A, et al. Recommendations for quantification methods during the performance of a pediatric echocardiogram: a report from the Pediatric Measurements Writing Group of the American Society of Echocardiography Pediatric and Congenital Heart Disease Council. J Am Soc Echocardiogr. 2010;23(5):465–95. https://doi.org/10.1016/j.echo.2010.03.019.

Article  PubMed  Google Scholar 

Mitchell C, Rahko P, Blauwet L, Canaday B, Finstuen J, Foster M, et al. Guidelines for performing a comprehensive transthoracic echocardiographic examination in adults: recommendations from the American Society of echocardiography. J Am Soc Echocardiogr. 2019;32(1):1–64. https://doi.org/10.1016/j.echo.2018.06.004.

Article  PubMed  Google Scholar 

Chess R, Mazur W, Palmer C. Stop the madness: mitral annular disjunction. CASE. 2023. https://doi.org/10.1016/j.case.2022.12.004.

Article  PubMed  PubMed Central  Google Scholar 

Demolder A, Timmermans F, Duytschaever M, Muiño-Mosquera L, De Backer J. Association of mitral annular disjunction with cardiovascular outcomes among patients with Marfan syndrome. JAMA Cardiol. 2021. https://doi.org/10.1001/jamacardio.2021.2312.

Article  PubMed  PubMed Central  Google Scholar 

Morris S, Orbach D, Geva T, Singh M, Gauvreau K, Lacro R. Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders. Circulation. 2011. https://doi.org/10.1161/CIRCULATIONAHA.110.990549.

Article  PubMed  PubMed Central  Google Scholar 

Morris S. Arterial tortuosity in genetic arteriopathies. Curr Opin Cardiol. 2015;30(6):587–93. https://doi.org/10.1097/HCO.0000000000000218.

Article  PubMed  PubMed Central  Google Scholar 

Svensson L, Khitin L. Aortic cross-sectional area/height ratio timing of aortic surgery in asymptomatic patients with Marfan syndrome. J Thorac Cardiovasc Surg. 2002;123(2):360–1. https://doi.org/10.1067/mtc.2002.118497.

Article  PubMed  Google Scholar 

Milleron O, Arnoult F, Delorme G, Detaint D, Pellenc Q, Raffoul R, et al. Pathogenic FBN1 genetic variation and aortic dissection in patients with Marfan syndrome. J Am Coll Cardiol. 2020;75(8):843–53. https://doi.org/10.1016/j.jacc.2019.12.043.

Article  CAS  PubMed  Google Scholar 

Zanotti G, Vricella L, Cameron D. Thoracic aortic aneurysm syndrome in children. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2008. https://doi.org/10.1053/j.pcsu.2008.01.005.

Article  PubMed  Google Scholar 

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