Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance.
J Neurol
; 253(10): 1317-22, 2006 Oct.
Article
em En
| MEDLINE
| ID: mdl-16786213
ABSTRACT
BACKGROUND:
The C826A mutation in the fukutin-related protein (FKRP) gene is typically associated with autosomal recessive limb-girdle muscular dystrophy 2I (LGMD2I) but oligosymptomatic phenotypes and patients with predominant cardiac involvement are also described.OBJECTIVE:
To assess cardiac involvement in patients with LGMD2I. PATIENTS Nine patients from 5 families (2 female, 7 male) homozygous for the 826C > A FKRP mutation were included.METHODS:
Additional to conventional cardiac investigations (electrocardiography and echocardiography) the patients underwent cardiovascular magnetic resonance imaging (CMR). RESULTS/CONCLUSION:
Cardiac involvement was detected by CMR in eight of nine patients (reduced left ventricular ejection fraction in 6, enlargement of left ventricular end-diastolic volume in 2 and left ventricular mass in 2) and in four patients by conventional cardiac diagnostic investigations. Two of the nine patients showed no muscle weakness or atrophy but suffered myalgias; both had cardiac manifestation of the disease. CMR is a sensitive method for detecting cardiac abnormalities in patients with LGMD2I and can be used for early detection of mild or subclinical cardiac involvement.
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Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular do Cíngulo dos Membros
/
Cardiopatias
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
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Screening_studies
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
/
Middle aged
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article