Dilated cardiomyopathy with hypergonadotropic hypogonadism

Other Names: Cardiogenital syndrome; Najjar syndrome; Malouf syndrome; Genital anomaly with cardiomyopathy; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Dilated cardiomyopathy with hypergonadotropic hypogonadism (DCMHH) is a condition that primarily affects the heart and gonads (male testes or female ovaries).

Cause

Some cases of DCMHH are caused by mutations in the LMNA gene.

Inheritance

Both autosomal dominant and autosomal recessive inheritance patterns have been described.

Signs and symptoms

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Aplasia of the phalanges of the 3rd toe(Absent digital bone of the 3rd toe)
• Dilated cardiomyopathy(Stretched and thinned heart muscle)
• Hypergonadotropic hypogonadism
• Polycystic ovaries
• Precocious puberty(Early onset of puberty)
• Ptosis(Drooping upper eyelid)
• Wide nasal bridge(Broad nasal bridge)

5%-29% of people have these symptoms

• Intellectual disability(Mental deficiency)

Diagnosis

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.

Treatment

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.

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NIH genetic and rare disease info

• NIH info on Dilated cardiomyopathy with hypergonadotropic hypogonadism

Dilated cardiomyopathy with hypergonadotropic hypogonadism is a rare disease.

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