National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dilated cardiomyopathy with hypergonadotropic hypogonadism


Other Names:
Cardiogenital syndrome; Najjar syndrome; Malouf syndrome; Cardiogenital syndrome; Najjar syndrome; Malouf syndrome; Genital anomaly with cardiomyopathy; Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome See More
Categories:
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.
Last updated: 8/15/2016

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia of the phalanges of the 3rd toe
Absent digital bone of the 3rd toe
0100362
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Hypergonadotropic hypogonadism 0000815
Polycystic ovaries 0000147
Precocious puberty
Early onset of puberty
Early puberty
[ more ] 		0000826
Ptosis
Drooping upper eyelid
0000508
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 ] 		0000431
5%-29% of people have these symptoms
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Down-sloping shoulders
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ] 		0200021
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Mitral regurgitation 0001653
Osteopenia 0000938
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Short clavicles
Short collarbone
0000894
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Last updated: 7/1/2020
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]
Last updated: 8/15/2016

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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Could you tell me some of the symptoms of dilated cardiomyopathy with hypergonadotropic hypogonadism? How many of these particular symptoms are required for a positive diagnosis to be established?  Are the criteria for diagnosis different for children than adults? See answer


  1. Victor A. McKusick. Dilated cardiomyopathy and hypergonadotropic hypogonadism. In: Marla J. F. O'Neill. OMIM. 2010; http://omim.org/entry/212112. Accessed 8/15/2016.
  2. Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome. Orphanet. May 2009; http://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. http://www.ncbi.nlm.nih.gov/pubmed/19283854.