Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers
Jazyk angličtina Země Anglie, Velká Británie Médium electronic
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
33247228
PubMed Central
PMC7695725
DOI
10.1038/s41598-020-77882-6
PII: 10.1038/s41598-020-77882-6
Knihovny.cz E-zdroje
- MeSH
- dopplerovská echokardiografie MeSH
- dospělí MeSH
- Duchennova muskulární dystrofie diagnostické zobrazování genetika patofyziologie MeSH
- dysfunkce levé srdeční komory diagnostické zobrazování patofyziologie MeSH
- heterozygot * MeSH
- lidé středního věku MeSH
- lidé MeSH
- mitrální chlopeň diagnostické zobrazování MeSH
- rychlost toku krve MeSH
- studie případů a kontrol MeSH
- systola MeSH
- trikuspidální chlopeň diagnostické zobrazování MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
To assess subclinical cardiac function impairment in Duchenne dystrophy (DMD) female carriers. Forty-four female subjects proved as DMD carriers underwent echocardiographic examination including tissue Doppler imaging (TDI) of mitral and tricuspid annulus. Seventeen age-matched healthy female subjects served as controls. A significant differences in peak systolic annular velocity (Sa) between carriers and controls were found for lateral and septal part of the mitral annulus and for tricuspid annulus (0.09 vs. 0.11 m/s, p < 0.001, 0.08 vs. 0.09 m/s, p < 0.01 and 0.13 vs. 0.14 m/s, p = 0.02 respectively). There was also difference in early diastolic velocity (Ea) of the septal part of the mitral annulus (0.11 vs. 0.13 m/s, p = 0.03). The subclinical deterioration of systolic function is presented even in asymptomatic DMD female carriers.
Department of Biology Faculty of Medicine Masaryk University Brno Czech Republic
Department of Pathological Physiology Faculty of Medicine Masaryk University Brno Czech Republic
International Clinical Research Center St Anne's University Hospital Brno Czech Republic
Zobrazit více v PubMed
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul. Disord. 2014;24:482–491. doi: 10.1016/j.nmd.2014.03.008. PubMed DOI
McNally EM. New approaches in the therapy of cardiomyopathy in muscular dystrophy. Annu. Rev. Med. 2007;58:75–88. doi: 10.1146/annurev.med.58.011706.144703. PubMed DOI
Markham LW, Michelfelder EC, Border WL, Khoury PR, Spicer RL, Wong BL, Benson DW, Cripe LH. Abnormalities of diastolic function precede dilated cardiomyopathy associated with Duchenne muscular dystrophy. J. Am. Soc. Echocardiogr. 2006;19:865–871. doi: 10.1016/j.echo.2006.02.003. PubMed DOI
Panovský R, Pešl M, Holeček T, Máchal J, Feitová V, Mrázová L, Haberlová J, Slabá A, Vít P, Stará V, Kincl V. Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping. Orphanet J. Rare Dis. 2019;14:10. doi: 10.1186/s13023-018-0986-0. PubMed DOI PMC
Danialou G, Comtois AS, Dudley R, Karpati G, Vincent G, DesRosiers C, Petrof BJ. Dystrophin-deficient cardiomyocytes are abnormally vulnerable to mechanical stress-induced contractile failure and injury. FASEB J. Off. Publ. Fed. Am. Soc. Exp. Biol. 2001;15:1655–1657. PubMed
Berry SE, Andruszkiewicz P, Chun JL, Hong J. Nestin expression in end-stage disease in dystrophin-deficient heart: implications for regeneration from endogenous cardiac stem cells. Stem Cells Transl. Med. 2013;2:848–861. doi: 10.5966/sctm.2012-0174. PubMed DOI PMC
Jelinkova S, Fojtik P, Kohutova A, Vilotic A, Marková L, Pesl M, Jurakova T, Kruta M, Vrbsky J, Gaillyova R, Valášková I, Frák I, Lacampagne A, Forte G, Dvorak P, Meli AC, Rotrekl V. Dystrophin deficiency leads to genomic instability in human pluripotent stem cells via NO synthase-induced oxidative stress. Cells. 2019 doi: 10.3390/cells8010053. PubMed DOI PMC
Mu X, Tang Y, Lu A, Takayama K, Usas A, Wang B, Weiss K, Huard J. The role of Notch signaling in muscle progenitor cell depletion and the rapid onset of histopathology in muscular dystrophy. Hum. Mol. Genet. 2015;24:2923–2937. doi: 10.1093/hmg/ddv055. PubMed DOI PMC
Pesl M, Jelinkova S, Caluori G, Holicka M, Krejci J, Nemec P, Kohutova A, Zampachova V, Dvorak P, Rotrekl V. Cardiovascular progenitor cells and tissue plasticity are reduced in a myocardium affected by Becker muscular dystrophy. Orphanet J. Rare Dis. 2020 doi: 10.1186/s13023-019-1257-4. PubMed DOI PMC
Li W, Liu W, Zhong J, Yu X. Early manifestation of alteration in cardiac function in dystrophin deficient mdx mouse using 3D CMR tagging. J. Cardiovasc. Magn. Reson. 2009;11:40. doi: 10.1186/1532-429X-11-40. PubMed DOI PMC
Cheng VE, Prior DL. Peripartum cardiomyopathy in a previously asymptomatic carrier of Duchenne muscular dystrophy. Heart Lung Circ. 2013;22:677–681. doi: 10.1016/j.hlc.2012.11.015. PubMed DOI
Finsterer J, Stöllberger C, Freudenthaler B, Simoni DD, Höftberger R, Wagner K. Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12–29. Intractable Rare Dis. Res. 2018;7:120–125. doi: 10.5582/irdr.2018.01003. PubMed DOI PMC
Florian A, Rösch S, Bietenbeck M, Engelen M, Stypmann J, Waltenberger J, Sechtem U, Yilmaz A. Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study. Eur. Heart J. Cardiovasc. Imaging. 2016;17:326–333. doi: 10.1093/ehjci/jev161. PubMed DOI
Kerr TP, Duward A, Hodgson SV, Hughes E, Robb SA. Hyperkalaemic cardiac arrest in a manifesting carrier of Duchenne muscular dystrophy following general anaesthesia. Eur. J. Pediatr. 2001;160:579–580. doi: 10.1007/s004310100812. PubMed DOI
Papa R, Madia F, Bartolomeo D, Trucco F, Pedemonte M, Traverso M, Broda P, Bruno C, Zara F, Minetti C, Fiorillo C. Genetic and early clinical manifestations of females heterozygous for duchenne/becker muscular dystrophy. Pediatr. Neurol. 2016;55:58–63. doi: 10.1016/j.pediatrneurol.2015.11.004. PubMed DOI
Melacini P, Fanin M, Angelini A, Pegoraro E, Livi U, Danieli GA, Hoffman EP, Thiene G, Dalla Volta S, Angelini C. Cardiac transplantation in a Duchenne muscular dystrophy carrier. Neuromuscul. Disord. 1998;8:585–590. doi: 10.1016/S0960-8966(98)00071-6. PubMed DOI
Han S, Xu H, Zheng J, Sun J, Feng X, Wang Y, Ye W, Ke Q, Ren Y, Yao S, Zhang S, Chen J, Griggs RC, Zhao Z, Qi M, Gatheridge MA. Population-wide duchenne muscular dystrophy carrier detection by CK and molecular testing. Biomed. Res. Int. 2020 doi: 10.1155/2020/8396429. PubMed DOI PMC
Masárová, L., Mojica-Pisciotti, M. L., Panovský, R., Kincl, V., Pešl, M. et al. Decreased global strains of LV in asymptomatic female Duchenne muscular dystrophy gene carriers using CMR-FT JACC-Cardiovasc Imag (in press) PubMed
Nagueh SF, Appleton CP, Gillebert TC, Marino PN, Oh JK, Smiseth OA, Waggoner AD, Flachskampf FA, Pellikka PA, Evangelisa A. Recommendations for the evaluation of left ventricular diastolic function by echocardiography. Eur. J. Echocardiogr. 2009;10(2):165–193. doi: 10.1093/ejechocard/jep007. PubMed DOI
Yu C-M, Sanderson JE, Marwick TH, Oh JK. Tissue Doppler imaging a new prognosticator for cardiovascular diseases. J. Am. Coll. Cardiol. 2007;49:1903–1914. doi: 10.1016/j.jacc.2007.01.078. PubMed DOI
Henein MY, Gibson DG. Long axis function in disease. Heart Br. Card. Soc. 1999;81:229–231. PubMed PMC
Fang ZY, Leano R, Marwick TH. Relationship between longitudinal and radial contractility in subclinical diabetic heart disease. Clin. Sci. Lond. Engl. 2004;106:53–60. doi: 10.1042/CS20030153. PubMed DOI
Nagueh SF, Bachinski LL, Meyer D, Hill R, Zoghbi WA, Tam JW, Quiñones MA, Roberts R, Marian AJ. Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy. Circulation. 2001;104:128–130. doi: 10.1161/01.CIR.104.2.128. PubMed DOI PMC
Richartz BM, Werner GS, Ferrari M, Figulla HR. Comparison of left ventricular systolic and diastolic function in patients with idiopathic dilated cardiomyopathy and mild heart failure versus those with severe heart failure. Am. J. Cardiol. 2002;90:390–394. doi: 10.1016/S0002-9149(02)02495-5. PubMed DOI
Wang M, Yip G, Yu C-M, Zhang Q, Zhang Y, Tse D, Kong S-L, Sanderson JE. Independent and incremental prognostic value of early mitral annulus velocity in patients with impaired left ventricular systolic function. J. Am. Coll. Cardiol. 2005;45:272–277. doi: 10.1016/j.jacc.2004.09.059. PubMed DOI
Nagueh SF, Middleton KJ, Kopelen HA, Zoghbi WA, Quiñones MA. Doppler tissue imaging: a noninvasive technique for evaluation of left ventricular relaxation and estimation of filling pressures. J. Am. Coll. Cardiol. 1997;30:1527–1533. doi: 10.1016/S0735-1097(97)00344-6. PubMed DOI
Sohn DW, Chai IH, Lee DJ, Kim HC, Kim HS, Oh BH, Lee MM, Park YB, Choi YS, Seo JD, Lee YW. Assessment of mitral annulus velocity by Doppler tissue imaging in the evaluation of left ventricular diastolic function. J. Am. Coll. Cardiol. 1997;30:474–480. doi: 10.1016/S0735-1097(97)88335-0. PubMed DOI
Chahal NS, Lim TK, Jain P, Chambers JC, Kooner JS, Senior R. Normative reference values for the tissue Doppler imaging parameters of left ventricular function: a population-based study. Eur. J. Echocardiogr. J. Work. Group Echocardiogr. Eur. Soc. Cardiol. 2010;11:51–56. doi: 10.1093/ejechocard/jep164. PubMed DOI
Mccaffrey T, Guglieri M, Murphy AP, Bushby K, Johnson A, Bourke JP. Cardiac involvement in female carriers of duchenne or becker muscular dystrophy. Muscle Nerve. 2017;55:810–818. doi: 10.1002/mus.25445. PubMed DOI
Politano L, Nigro V, Nigro G, Petretta VR, Passamano L, Papparella S, Di Somma S. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA. 1996;275(17):1335–8. doi: 10.1001/jama.1996.03530410049032. PubMed DOI
Hoogerwaard EM, Ginjaar IB, Bakker E, de Visser M. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy. Neurology. 2005;65:1984–1986. doi: 10.1212/01.wnl.0000188909.89849.59. PubMed DOI