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Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
ORPHA:2229Classification level: Disorder
Prevalence is unknown but less than 20 affected families have been described in the literature so far.
Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies, metabolic abnormalities, thyroid hemiagenesis, collagenoma, diabetes mellitus, and thyroid hemiagenesis.
Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype (ovarian failure and progressive dilated cardiomyopathy) but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).
Transmission appears to be autosomal recessive.
- Guidance for genetic testing
- Français (2016, pdf)