Clinical characterization of patients with Danon disease / 中华心血管病杂志
Chinese Journal of Cardiology
;
(12): 594-597, 2013.
Article
Dans Chinois
| WPRIM
| ID: wpr-261489
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical characterization of Danon disease caused by the mutation of lysosome-associated membrane protein-2 (LAMP-2) gene.</p><p><b>METHODS</b>The clinical features, serum biochemical index, electrocardiogram and echocardiography data were retrospectively reviewed in 5 patients with genetically confirmed Danon disease. Mean follow-up period was (56 ± 6) months.</p><p><b>RESULTS</b>Five patients including 2 men and 3 women in 2 unrelated families with 2 novel mutations in the exon 3 (c.189-190TGdel) and 8 (c.1205Cdel) of the LAMP-2 gene were identified. All patients had cardiomyopathy, 1 patient (1/5) had skeletal myopathy, and none of the patients had mental retardation. The two male patients presented cardiac symptoms at the age of 9 and 10 years, respectively, and all female patients were asymptomatic. Biochemical analysis showed that serum creatine kinase and liver transaminase enzyme were increased in 2 patients (2/5). Abnormal electrocardiogram was observed in all patients, and 2 patients (2/5) had ventricular preexcitation. During the follow-up. One male patient died of cardiac failure at the age of 18 years and three months, and the symptoms of the other male patients rapidly developed with the evolution from hypertrophic cardiomyopathy into dilated cardiomyopathy. However, all female patients remained asymptomatic, and repeat echocardiography indicated only mild ventricular hypertrophy during follow up.</p><p><b>CONCLUSION</b>Patients with Danon disease mainly present hypertrophic cardiomyopathy, and sometimes presents with skeletal myopathy. The disorder occurs at early, age and progresses quickly and ends with poor prognosis in male patients. Other clinical features include elevations of serum creatine kinase and liver transaminase enzyme, ventricular preexcitation on electrocardiogram, and ventricular hypertrophy detected by echocardiography. Female patients remain asymptomatic till now in our cohort.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Études rétrospectives
/
Diagnostic
/
Glycogénose de type IIb
/
Protéine de membrane-2 associée au lysosome
/
Génétique
/
Mutation
Type d'étude:
Etude diagnostique
/
Étude observationnelle
/
Étude pronostique
Limites du sujet:
Adolescent
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Cardiology
Année:
2013
Type:
Article
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