dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Malouf syndrome

Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: intellectual disability, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia). This congenital disease was first classified in 1985 by Dr. Joe Malouf, who performed a case study on two sisters that displayed this rare syndrome. The study consisted of two sisters that presented with hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and a broad nasal base. Upon further analysis of their genetic lineage, it was found that the parents of the sisters were first-degree cousins; Malouf then classified the syndrome as a familial disorder. In 1992, a new case study of an 18-year-old female conducted by Narahara et al. resulted in similar findings as Malouf. Although the prevalence of Malouf syndrome is unknown, there are less than 20 affected families discussed in literature. While there is no specific cure for Malouf syndrome, symptoms can be treated. The treatment options are individualized and should be determined by a doctor or specialist.