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Disease Profile

Dilated cardiomyopathy with hypergonadotropic hypogonadism

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Cardiogenital syndrome; Najjar syndrome; Malouf syndrome;


Congenital and Genetic Diseases; Endocrine Diseases; Heart Diseases;


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.


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
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
Early puberty

[ more ]

Drooping upper eyelid
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

5%-29% of people have these symptoms
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific

[ more ]

Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
Down-sloping shoulders
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders

[ more ]

Inability to make and keep healthy fat tissue
Mitral regurgitation
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

Short clavicles
Short collarbone


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]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dilated cardiomyopathy with hypergonadotropic hypogonadism. Click on the link to view a sample search on this topic.


  1. Victor A. McKusick. Dilated cardiomyopathy and hypergonadotropic hypogonadism. In: Marla J. F. O'Neill. OMIM. 2010; https://omim.org/entry/212112. Accessed 8/15/2016.
  2. Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome. Orphanet. May 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2229. Accessed 8/15/2016.
  3. McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF. Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. Am J Med Genet A. Feb 15, 2009; 149A(4):567-72. https://www.ncbi.nlm.nih.gov/pubmed/19283854.

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