Dilated cardiomyopathy with hypergonadotropic hypogonadism

Dilated cardiomyopathy with hypergonadotropic hypogonadism (DCMHH) is a condition that primarily affects the heart and gonads (male testes or female ovaries). It is characterized by a disease of the heart muscle (dilated cardiomyopathy) and little or no production of sex hormones due to a problem with the pituitary gland or hypothalamus (hypergonadotropic hypogonadism). Other symptoms might include: characteristic facial features, intellectual disability, mild skeletal anomalies, and abnormalities of the metabolic system.^[1][2] Some cases of DCMHH are caused by mutations in the LMNA gene.^[3] Both autosomal dominant and autosomal recessive inheritance patterns have been described.^[1][2] Although there is no specific treatment or cure for DCMHH, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

There are no established diagnostic criteria for DCMHH. The diagnosis is made based on findings of characteristic signs and symptoms. The diagnosis might be confirmed with genetic testing, including analysis of the LMNA gene.^[3]