Cardiac assessment of limb-girdle muscular dystrophy 2I patients: An echography, Holter ECG and magnetic resonance imaging study

Neuromuscular Disorders

Volumn 18, Issue 8, 2008, Pages 650-655

  Wahbi, Karim ^a   Meune, Christophe ^b   Hamouda, El Hadi ^a   Stojkovic, Tania ^a   Laforêt, Pascal ^a   Bécane, Henri Marc ^a   Eymard, Bruno ^a   Duboc, Denis ^b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b NONE   (France)

Author keywords

Cardiomyopathy; Limb girdle muscular dystrophy 2I; Magnetic resonance imaging

Indexed keywords

FUKUTIN RELATED PROTEIN;

ADULT; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ECHOGRAPHY; FEMALE; FIBROSIS; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEART ARRHYTHMIA; HEART LEFT VENTRICLE EJECTION FRACTION; HEART RHYTHM; HOLTER MONITORING; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE DISEASE; MYOCARDIAL DISEASE; MYOGLOBINURIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PREVALENCE; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; ARRHYTHMIAS, CARDIAC; CARDIOMYOPATHIES; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY, AMBULATORY; FEMALE; GENE FREQUENCY; GENOTYPE; HEART FAILURE; HEART FUNCTION TESTS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MYOCARDIUM; PHENOTYPE; PROTEINS;

EID: 48749108191     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.06.365     Document Type: Article

References (27)

1. Brockington M., Blake D.J., Prandini P., et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin 2 deficiency and abnormal glycosylation of dystroglycan. Am J Hum Genet 69 (2001) 1198-1209
2. Driss A., Amouri R., Ben Hamida C., et al. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13. 3. Neuromuscul Disord 10 (2000) 240-246
3. Beltran-Valero de Bernabé D., Voit T., Longman T., et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet 41 (2004) 61
4. Brown S.C., Torelli S., Brockington M., et al. Abnormalities in dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol 164 (2004) 727-737
5. Esapa C.T., Benson M.A., Schroder J.E., et al. Functional requirements for fukutin related protein in the Golgi apparatus. Hum Mol Genet 11 (2002) 3319-3331
6. Muntoni F., Brockington M., Blake D.J., Torelli S., and Brown S.C. Defective glycosylation in muscular dystrophy. Lancet 360 (2002) 1419-1421
7. Brockington M., Yuva Y., Prandini P., et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 10 (2001) 2851-2859
8. Sveen M.L., Schwartz M., and Vissing J. High prevalence and phenotype-genotype correlations of limb-girdle muscular dystrophy type 2I in Denmark. Ann Neurol 59 (2006) 808-815
9. Poppe M., Cree L., Bourke J., et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 50 (2003) 1246-1251
10. Poppe M., Bourke J., Eagle M., et al. Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol 56 (2004) 738-741
11. Boito C.A., Melacini P., Vianello A., et al. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol 62 (2005) 1894-1899
12. Mercuri E., Brockington M., Straub V., et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol 53 (2003) 537-542
13. Walter M.C., Petersen J.A., Stucka R., et al. FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. J Med Genet 41 (2004) 50
14. Walton J.N. Disorders of voluntary muscle (1981), Churchill Livingstone, London p. 451-455
15. Ganau A., Devereux R.B., Roman M.J., et al. Patterns of left ventricular hypertrophy and geometric remodeling in essential hypertension. J Am Coll Cardiol 19 (1992) 1550-1558
16. Lang M.R., Bierig M., Devereux R.B., et al. Recommendations for chamber quantification: a report from the American society of echocardiography's guidelines and standards committee and the chamber quantification writing group. J Am Soc Echocardiogr 18 (2005) 1440-1463
17. Vignaux O., Lazarus A., Varin J., et al. Right ventricular MR abnormalities in myotonic dystrophy and relationship with intracardiac electrophysiologic test findings: initial results. Radiology 224 (2002) 231-235
18. Corrado G., Lissoni A., Beretta S., et al. Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy. Am J Cardiol 89 (2002) 838-841
19. Flather M.D., Yusuf S., Kober L., et al. Long-term ACE-inhibitor therapy in patients with heart failure or left-ventricular dysfunction: a systematic overview of data from individual patients. ACE-inhibitor myocardial infarction collaborative group. Lancet 355 (2000) 1575-1581
20. Duboc D., Meune C., Pierre B., et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J 154 (2007) 596-602
21. Gaul C., Deschauer M., Tempelmann C., et al. Cardiac involvement in limb-girdle muscular dystrophy 2I: conventional cardiac diagnostic and cardiovascular magnetic resonance. J Neurol 253 (2006) 1317-1322
22. Assomull R.G., Prasad S.K., Lyne J., et al. Cardiovascular magnetic resonance, fibrosis, and prognosis in dilated cardiomyopathy. J Am Coll Cardiol 48 (2006) 1977-1985
23. Moorman J.R., Coleman R.E., Packer D.L., et al. Cardiac involvement in myotonic muscular dystrophy. Medicine 64 (1985) 371-387
24. Nguyen H.H., Wolfe J.T., Holmes D.R., et al. Pathology of the cardiac conduction system in myotonic dystrophy: a study of 12 cases. J Am Coll Cardiol 11 (1988) 662-671
25. Hawley R.J., Milner M.R., Gottdiener J.S., et al. Myotonic heart disease: a clinical follow-up. Neurology 41 (1991) 259-262
26. Lazarus A., Varin J., Babuty D., Anselme F., Coste J., and Duboc D. Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: a multicenter diagnostic pacemaker study. J Am Coll Cardiol 40 (2002) 1645-1652
27. Laforet P., de Toma C., Eymard B., et al. Cardiac involvement in genetically confirmed facio-scapulo-humeral muscular dystrophy. Neurology 51 (1998) 1454-1456