Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
Epidemiology
Prevalence is unknown but less than 20 affected families have been described in the literature so far.
Clinical description
Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies, metabolic abnormalities, thyroid hemiagenesis, collagenoma, diabetes mellitus, and thyroid hemiagenesis.
Etiology
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).
Genetic counseling
Transmission appears to be autosomal recessive.