Dilated cardiomyopathy with hypergonadotropic hypogonadism

Disease Overview

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.[1145][12043] Some cases of DCMHH are caused by mutations in the LMNA gene.[12044] Both autosomal dominant and autosomal recessive inheritance patterns have been described.[1145][12043] 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.

Synonyms

• Cardiogenital syndrome
• Najjar syndrome
• Malouf syndrome
• Genital anomaly with cardiomyopathy
• Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome