Clinical manifestations and MRI features of Danon disease: a case series.
BMC Cardiovasc Disord
; 23(1): 397, 2023 08 11.
Article
em En
| MEDLINE
| ID: mdl-37568080
ABSTRACT
BACKGROUND:
Danon disease (DD) is an exceptionally uncommon X-linked dominant lysosomal glycogen storage disorder characterized by pronounced ventricular hypertrophy and cardiac insufficiency. The timely identification of cardiac impairment in individuals with DD holds significant clinical importance. CASE PRESENTATION We present a case of Danon Disease in a three-generation pedigree from Anhui Province, China. Clinical features and laboratory data were collected and analyzed for a 16-year-old male proband (III-1) and two affected female family members (II-2 and II-3). The proband exhibited Wolf-Parkinson-White syndrome, hypertrophic cardiomyopathy, abnormal cognitive function, and muscle weakness. Gene sequencing confirmed a mutation (c.963G > A) in the LAMP-2 gene.CONCLUSION:
Patients with DD may present both dilated and hypertrophic cardiomyopathy. Comprehensive myocardial tissue characterization by MRI plays a key role in the diagnosis of the disease.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Wolff-Parkinson-White
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Cardiomiopatia Hipertrófica
/
Doença de Depósito de Glicogênio Tipo IIb
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
BMC Cardiovasc Disord
Assunto da revista:
ANGIOLOGIA
/
CARDIOLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
China