nach oben

27.10.2024 | Research

Mitral Annular Disjunction Associated with Ventricular Dilation in Pediatric Marfan Syndrome: A Cardiovascular Magnetic Resonance Study

verfasst von: Ryan S. Bishop, Tam T. Doan, Natalie K. Craik, Sara B. Stephens, Alejandra Iturralde Chavez, Shagun Sachdeva, Justin D. Weigand

Erschienen in: Pediatric Cardiology

Einloggen, um Zugang zu erhalten

Abstract

Background

Mitral annular disjunction (MAD) has increasingly been recognized as a marker for adverse cardiovascular events in Marfan syndrome (MFS). As recent adult data links MFS with left ventricular (LV) dilation and reduced ejection fraction (LVEF), we hypothesized that MAD may be associated with LV dilation in pediatric MFS patients.

Methods

A retrospective analysis was performed among MFS patients < 19 years old at initial cardiac MRI (CMR). MAD and mitral valve prolapse (MVP) were assessed by CMR or most proximate echo. CMR-derived left ventricular end-diastolic (LVEDV) and end-systolic (LVESV) volumes were measured. Indexed volumes, absolute and indexed z-scores, and LVEF were calculated. The combined volume load from mitral and aortic regurgitation was indexed to LV stroke volume, allowing exclusion of patients with greater than mild volume load or prior MV intervention. MAD association with LV volumes and z-scores was then assessed.

Results

Forty-two patients were analyzed (median age 13.5 years old, IQR [10.9, 15.3]). MAD was present in 28 patients (66.7%), and MVP was present in 13 patients (31.0%). Absolute LVEDV z-score was > 2 in 35.7% of patients, LVESV z-score was > 2 in 42.9%, and LVEF was < 55% in 45.2%. In multivariable analysis including MVP, MAD remained independently associated with elevated absolute LVESV z-score > 2 (RR 3.88, 95% CI 1.02–14.69, p = 0.046).

Conclusion

MAD was associated with CMR-derived volume-load-independent LV dilation among pediatric MFS patients. Prospective studies are needed to further understand this association and its relationship with LV dilation over time.

Nur mit Berechtigung zugänglich

Pyeritz RE, McKusick VA (1979) The Marfan syndrome: diagnosis and management. N Engl J Med 300:772–777. https://doi.org/10.1056/NEJM197904053001406CrossRefPubMed

Ramirez F, Dietz HC (2007) Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev 17:252–258. https://doi.org/10.1016/j.gde.2007.04.006CrossRefPubMed

Alpendurada F, Wong J, Kiotsekoglou A, Banya W, Child A, Prasad SK, Pennell DJ, Mohiaddin RH (2010) Evidence for Marfan cardiomyopathy. Eur J Heart Fail 12:1085–1091. https://doi.org/10.1093/eurjhf/hfq127CrossRefPubMed

De Backer JF, Devos D, Segers P, Matthys D, François K, Gillebert TC, De Paepe AM, De Sutter J (2006) Primary impairment of left ventricular function in Marfan syndrome. Int J Cardiol 112:353–358. https://doi.org/10.1016/J.IJCARD.2005.10.010CrossRefPubMed

Andersen NH, Groth KA, Berglund A, Hove H, Gravholt CH, Stochholm K (2021) Non-aortic cardiovascular disease in Marfan syndrome: a nationwide epidemiological study. Clin Res Cardiol 110:1106–1115. https://doi.org/10.1007/s00392-021-01858-3CrossRefPubMed

Winther S, Williams LK, Keir M, Connelly KA, Bradley TJ, Rakowski H, Crean AM (2019) Cardiovascular magnetic resonance provides evidence of abnormal myocardial strain and primary cardiomyopathy in marfan syndrome. J Comput Assist Tomogr 43:410–415. https://doi.org/10.1097/RCT.0000000000000863CrossRefPubMed

Meijboom LJ, Timmermans J, Van Tintelen JP, Nollen GJ, De Backer J, Van Den Berg MP, Boers GH, Mulder BJM (2005) Evaluation of left ventricular dimensions and function in Marfan’s syndrome without significant valvular regurgitation. Am J Cardiol 95:795–797. https://doi.org/10.1016/j.amjcard.2004.11.042CrossRefPubMed

Demolder A, Timmermans F, Duytschaever M, Muiño-Mosquera L, De Backer J (2021) Association of mitral annular disjunction with cardiovascular outcomes among patients with Marfan syndrome. JAMA Cardiol 6:1177–1186. https://doi.org/10.1001/JAMACARDIO.2021.2312CrossRefPubMed

Essayagh B, Sabbag A, Antoine C, Benfari G, Yang LT, Maalouf J, Asirvatham S, Michelena H, Enriquez-Sarano M (2020) Presentation and outcome of arrhythmic mitral valve prolapse. J Am Coll Cardiol 76:637–649. https://doi.org/10.1016/J.JACC.2020.06.029CrossRefPubMed

10.

Basso C, Perazzolo Marra M, Rizzo S, De Lazzari M, Giorgi B, Cipriani A, Frigo AC, Rigato I, Migliore F, Pilichou K, Bertaglia E, Cacciavillani L, Bauce B, Corrado D, Thiene G, Iliceto S (2015) Arrhythmic mitral valve prolapse and sudden cardiac death. Circulation 132:556–566. https://doi.org/10.1161/CIRCULATIONAHA.115.016291.

11.

Doan TT, Iturralde Chavez A, Valdes SO, Weigand D, Wilkinson JC, Parthiban A, Stephens SB, Pignatelli RH, Morris SA (2021) Mitral annular disjunction and its progression during childhood in Marfan syndrome. Eur Heart J Cardiovasc Imaging. https://doi.org/10.1093/EHJCI/JEAE125.

12.

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM (2010) The revised Ghent nosology for the Marfan syndrome. J Med Genet, pp 764–771. https://doi.org/10.1136/jmg.2009.072785.

13.

Fleming S, Thompson M, Stevens R, Heneghan C, Plüddemann A, Maconochie I, Tarassenko L, Mant D (2011) Normal ranges of heart rate and respiratory rate in children from birth to 18 years of age: a systematic review of observational studies. Lancet 377:1011–1018. https://doi.org/10.1016/S0140-6736(10)62226-XCrossRefPubMedPubMedCentral

14.

Valsangiacomo Buechel E, Kaiser T, Jackson C, Schmitz A, Kellenberger CJ (2009) Normal right-and left ventricular volumes and myocardial mass in children measured by steady state free precession cardiovascular magnetic resonance. J Cardiovasc Magn Reson 11. https://doi.org/10.1186/1532-429X-11-19.

15.

Kawel-Boehm N, Maceira A, Valsangiacomo-Buechel ER, Vogel-Claussen J, Turkbey EB, Williams R, Plein S, Tee M, Eng J, Bluemke DA (2015) Normal values for cardiovascular magnetic resonance in adults and children. J Cardiovasc Magn Reson, 17. https://doi.org/10.1186/S12968-015-0111-7.

16.

Faletra FF, Leo LA, Paiocchi VL, Schlossbauer SA, Pavon AG, Ho SY, Maisano F (2021) Morphology of mitral annular disjunction in mitral valve prolapse. J Am Soc Echocardiogr. https://doi.org/10.1016/j.echo.2021.09.002CrossRefPubMed

17.

Youden W (1950) Index for rating diagnostic tests. Cancer 3:32–35CrossRefPubMed

18.

Campens L, Renard M, Trachet B, Segers P, Muino Mosquera L, De Sutter J, Sakai L, De Paepe A, De Backer J (2015) Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans. Pediatr Res 78:256–263. https://doi.org/10.1038/pr.2015.110.

19.

Connell PS, Morris SA, Doan TT, Weigand J (2023) Abnormal left ventricular strain correlates with left ventricular dysfunction but not aortic pathology in Marfan syndrome in children. Pediatr Cardiol 44:1536–1545. https://doi.org/10.1007/s00246-023-03232-8CrossRefPubMed

20.

Cook JR, Carta L, Bénard L, Chemaly ER, Chiu E, Rao SK, Hampton TG, Yurchenco P, Costa KD, Hajjar RJ, Ramirez F (2014) Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J Clin Invest, 124. https://doi.org/10.1172/JCI71059.

21.

Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, Gabrielson KL, Hausladen JMW, Mecham RP, Judge DP, Dietz HC (2004) TGF-β-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 114:1586–1592. https://doi.org/10.1172/JCI200422715CrossRefPubMedPubMedCentral

22.

Dejgaard LA, Skjølsvik ET, Lie ØH, Ribe M, Stokke MK, Hegbom F, Scheirlynck ES, Gjertsen E, Andresen K, Helle-Valle TM, Hopp E, Edvardsen T, Haugaa KH (2018) The Mitral annulus disjunction arrhythmic syndrome. J Am Coll Cardiol 72:1600–1609. https://doi.org/10.1016/j.jacc.2018.07.070CrossRefPubMed

23.

Carr K, Yetman A, Garg R (2021) mitral annular disjunction associated with fatal ventricular arrhythmia in an adolescent with Marfan syndrome. JACC Case Rep 3:1520–1524. https://doi.org/10.1016/j.jaccas.2021.08.006CrossRef

24.

Lee AP-W, Jin C-N, Fan Y, Wong RHL, Underwood MJ, Wan S (2017) Functional Implication of mitral annular disjunction in mitral valve prolapse: a quantitative dynamic 3D echocardiographic study. J Am Coll Cardiol 69:1608. https://doi.org/10.1016/j.jacc.2017.01.037CrossRef

25.

Carmo P, Andrade MJ, Aguiar C, Rodrigues R, Gouveia R, Silva JA (2010) Mitral annular disjunction in myxomatous mitral valve disease: a relevant abnormality recognizable by transthoracic echocardiography. Cardiovasc Ultrasound 8:53. https://doi.org/10.1186/1476-7120-8-53CrossRefPubMedPubMedCentral

26.

Konda T, Tani T, Suganuma N, Nakamura H, Sumida T, Fujii Y, Kawai J, Kitai T, Kim K, Kaji S, Furukawa Y (2017) The analysis of mitral annular disjunction detected by echocardiography and comparison with previously reported pathological data. J Echocardiogr 15:176–185. https://doi.org/10.1007/S12574-017-0349-1CrossRefPubMed

27.

Scheirlynck E, Dejgaard LA, Skjølsvik E, Lie ØH, Motoc A, Hopp E, Tanaka K, Ueland T, Ribe M, Collet C, Edvardsen T, Droogmans S, Cosyns B, Haugaa KH (2019) Increased levels of sST2 in patients with mitral annulus disjunction and ventricular arrhythmias. Open Heart, 6. https://doi.org/10.1136/OPENHRT-2019-001016.

28.

El-Tallawi KC, Kitkungvan D, Xu J, Cristini V, Yang EY, Quinones MA, Lawrie GM, Zoghbi WA, Shah DJ (2021) Resolving the disproportionate left ventricular enlargement in mitral valve prolapse due to barlow disease: insights from cardiovascular magnetic resonance. JACC Cardiovasc Imaging 14:573–584. https://doi.org/10.1016/j.jcmg.2020.08.029CrossRefPubMed

29.

Yang L-T, Ahn SW, Li Z, Benfari G, Mankad R, Takeuchi M, Levine RA, Enriquez-Sarano M, Michelena HI (2020) Mitral valve prolapse patients with less than moderate mitral regurgitation exhibit early cardiac chamber remodeling. J Am Soc Echocardiogr 33:815–825. https://doi.org/10.1016/j.echo.2020.01.016CrossRefPubMedPubMedCentral

30.

Verbeke J, Demolder A, De Backer J, Timmermans F (2022) Mitral annular disjunction: associated pathologies and clinical consequences. Curr Cardiol Rep 24:1933–1944. https://doi.org/10.1007/s11886-022-01806-1CrossRefPubMed

31.

Bui AH, Roujol S, Foppa M (2017) Diffuse myocardial fibrosis in patients with mitral valve prolapse and ventricular arrhythmia. Heart 103:204–209. https://doi.org/10.1136/heartjnl-2016-309303CrossRefPubMed

32.

Karur GR, Pagano JJ, Bradley T, Lam CZ, Seed M, Yoo SJ, Grosse-Wortmann L (2018) Diffuse myocardial fibrosis in children and adolescents with Marfan syndrome and Loeys-Dietz syndrome. J Am Coll Cardiol 72:2279–2281. https://doi.org/10.1016/J.JACC.2018.07.095CrossRefPubMed

Titel: Mitral Annular Disjunction Associated with Ventricular Dilation in Pediatric Marfan Syndrome: A Cardiovascular Magnetic Resonance Study
verfasst von: Ryan S. Bishop
Tam T. Doan
Natalie K. Craik
Sara B. Stephens
Alejandra Iturralde Chavez
Shagun Sachdeva
Justin D. Weigand
Publikationsdatum: 27.10.2024
Verlag: Springer US
Erschienen in: Pediatric Cardiology
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-024-03678-4

Kompaktes Leitlinien-Wissen Innere Medizin (Link öffnet in neuem Fenster)

Mit medbee Pocketcards schnell und sicher entscheiden.
Leitlinien-Wissen kostenlos und immer griffbereit auf ihrem Desktop, Handy oder Tablet.

Kostenlos registrieren

Neu im Fachgebiet Kardiologie

Verschlechtert frühe Hyperoxie nach Reanimation die Prognose?

22.01.2025
Kardiopulmonale Reanimation
Nachrichten

Kommt es sehr früh nach einer kardiopulmonalen Reanimation zu einem Zustand der Hyperoxie, ist dies bei Patienten nach einem Herzstillstand mit schlechteren funktionellen Ergebnissen assoziiert. Das zeigt eine Sekundäranalyse der TTM-2-Studie.

Lp(a) zur Risikoeinschätzung bei Thoraxschmerzen

20.01.2025
Koronare Herzerkrankung
Nachrichten

Der Lp(a)-Wert kann dazu beitragen, bei stabilen Patienten mit neu aufgetretenen Thoraxschmerzen und ohne KHK-Diagnose die Wahrscheinlichkeit für das Vorliegen von Koronarstenosen abzuschätzen.

Finerenon bei eGFR-Verlust nicht gleich absetzen!

20.01.2025
Chronische Herzinsuffizienz
Nachrichten

Der Mineralokortikoid-Rezeptor-Antagonist Finerenon verbessert die Prognose bei Herzinsuffizienz mit leicht reduzierter oder erhaltener Ejektionsfraktion. Ein Rückgang der eGFR zu Beginn der Therapie scheint diese Wirkung nicht wesentlich zu mindern.

LVAD auch bei kalt-trockener terminaler Herzinsuffizienz wirksam

20.01.2025
Herzinsuffizienz
Nachrichten

Auch Personen mit kalt-trockener terminaler Herzinsuffizienz profitieren von einem linksventrikulären Unterstützungssystem (LVAD), wie Daten aus einem US-Register nahelegen. Doch es gibt Besonderheiten.

EKG Essentials: EKG befunden mit System (Link öffnet in neuem Fenster)

In diesem CME-Kurs können Sie Ihr Wissen zur EKG-Befundung anhand von zwölf Video-Tutorials auffrischen und 10 CME-Punkte sammeln.
Praxisnah, relevant und mit vielen Tipps & Tricks vom Profi.

Jetzt 10 CME-Punkte sammeln

Update Kardiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen