Hypertrophic Cardiomyopathy

Common Name(s)

Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a disease in which the walls of the heart muscle become abnormally thick. When the walls of the heart are thick it makes it difficult to pump blood. HCM can affect men and women of any age. HCM often goes undiagnosed because people often have few symptoms. Some may experience symptoms such as shortness of breath, chest pain, fainting, dizziness, fatigue, heart murmur or sensation of a racing heart beat. A physician can typically diagnose HCM using a heart function test called an echocardiogram. Additional tests, such as a treadmill stress test, may be needed. Medication and certain medical procedures can help manage symptoms and prevent sudden cardiac death. People with HCM often lead normal lives with no significant problems.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypertrophic Cardiomyopathy" for support, advocacy or research.

Barth Syndrome Foundation

Our mission is saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

Last Updated: 14 Jan 2015

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Children's Cardiomyopathy Foundation

Our mission is to accelerate the search for a cure by stimulating and supporting promising research on pediatric cardiomyopathy, by educating and assisting physicians and patients on the complexities of the disease, and by increasing awareness and advocacy on behalf of affected children and their families.

Last Updated: 20 May 2014

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Hypertrophic Cardiomyopathy Association

Our mission is to provide support, advocacy and education to patients, and their family members, the medical community and the public about Hypertrophic Cardiomyopathy.

Last Updated: 6 May 2013

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Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 30 Oct 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypertrophic Cardiomyopathy" for support, advocacy or research.

Barth Syndrome Foundation

Our mission is saving lives through education, advances in treatment, and finding a cure for Barth syndrome.

https://www.barthsyndrome.org

Last Updated: 14 Jan 2015

View Details
Children's Cardiomyopathy Foundation

Our mission is to accelerate the search for a cure by stimulating and supporting promising research on pediatric cardiomyopathy, by educating and assisting physicians and patients on the complexities of the disease, and by increasing awareness and advocacy on behalf of affected children and their families.

http://www.childrenscardiomyopathy.org

Last Updated: 20 May 2014

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Hypertrophic Cardiomyopathy Association

Our mission is to provide support, advocacy and education to patients, and their family members, the medical community and the public about Hypertrophic Cardiomyopathy.

http://www.4hcm.org

Last Updated: 6 May 2013

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Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 30 Oct 2012

View Details

 

General Support Organizations

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General Resources

Barth Syndrome Professional Healthcare Brochure

Important information regarding diagnosis and treatment of Barth syndrome.

Updated 12 Apr 2014

Open Doc
How to Diagnose

How to diagnose Barth syndrome

Updated 14 Jan 2015

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Overview of Barth syndrome

Overview of Barth syndrome

Updated 14 Jan 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hypertrophic Cardiomyopathy" returned 1685 free, full-text research articles on human participants. First 3 results:

Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.
 

Author(s): Michael Arad, Lorenzo Monserrat, Shiraz Haron-Khun, Jonathan G Seidman, Christine E Seidman, Eloisa Arbustini, Michael Glikson, Dov Freimark

Journal: Isr. Med. Assoc. J.. 2014 Nov;16(11):707-13.

 

Hypertrophic cardiomyopathy (HCM) is a familial disease with autosomal dominant inheritance and age-dependent penetrance, caused primarily by mutations of sarcomere genes. Because the clinical variability of HCM is related to its genetic heterogeneity, genetic studies may improve ...

Last Updated: 6 Jan 2015

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Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
 

Author(s): Raffaele Coppini, Carolyn Y Ho, Euan Ashley, Sharlene Day, Cecilia Ferrantini, Francesca Girolami, Benedetta Tomberli, Sara Bardi, Francesca Torricelli, Franco Cecchi, Alessandro Mugelli, Corrado Poggesi, Jil Tardiff, Iacopo Olivotto

Journal: J. Am. Coll. Cardiol.. 2014 Dec;64(24):2589-600.

 

Mild hypertrophy but increased arrhythmic risk characterizes the stereotypic phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament mutations. However, whether such clinical profile is different from more prevalent thick-filament-associated disease is unresolved.

Last Updated: 19 Dec 2014

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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
 

Author(s): Robert Kopajtich, Thomas J Nicholls, Joanna Rorbach, Metodi D Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander, Daniele Ghezzi, Rosalba Carrozzo, Robert W Taylor, Klaus Marquard, Kei Murayama, Thomas Wieland, Thomas Schwarzmayr, Johannes A Mayr, Sarah F Pearce, Christopher A Powell, Ann Saada, Akira Ohtake, Federica Invernizzi, Eleonora Lamantea, Ewen W Sommerville, Angela Pyle, Patrick F Chinnery, Ellen Crushell, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Zahra Assouline, Marlène Rio, François Feillet, Bénédict Mousson de Camaret, Dominique Chretien, Arnold Munnich, Björn Menten, Tom Sante, Joél Smet, Luc Régal, Abraham Lorber, Asaad Khoury, Massimo Zeviani, Tim M Strom, Thomas Meitinger, Enrico S Bertini, Rudy Van Coster, Thomas Klopstock, Agnès Rötig, Tobias B Haack, Michal Minczuk, Holger Prokisch

Journal: Am. J. Hum. Genet.. 2014 Dec;95(6):708-20.

 

Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from defective mitochondrial energy production through oxidative phosphorylation. These defects can be caused by either mutations in the mtDNA or mutations in nuclear genes coding for mitochondrial ...

Last Updated: 6 Dec 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hypertrophic Cardiomyopathy" returned 138 free, full-text review articles on human participants. First 3 results:

Hypertrophic cardiomyopathy: how do mutations lead to disease?
 

Author(s): Júlia Daher Carneiro Marsiglia, Alexandre Costa Pereira

Journal: Arq. Bras. Cardiol.. 2014 Mar;102(3):295-304.

 

Hypertrophic cardiomyopathy (HCM) is the most common monogenic genetic cardiac disease, with an estimated prevalence of 1:500 in the general population. Clinically, HCM is characterized by hypertrophy of the left ventricle (LV) walls, especially the septum, usually asymmetric, in ...

Last Updated: 9 Apr 2014

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Hypertrophic and dilated cardiomyopathy: four decades of basic research on muscle lead to potential therapeutic approaches to these devastating genetic diseases.
 

Author(s): James A Spudich

Journal: Biophys. J.. 2014 Mar;106(6):1236-49.

 

With the advent of technologies to obtain the complete sequence of the human genome in a cost-effective manner, this decade and those to come will see an exponential increase in our understanding of the underlying genetics that lead to human disease. And where we have a deep understanding ...

Last Updated: 24 Mar 2014

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Muscle dysfunction in hypertrophic cardiomyopathy: what is needed to move to translation?
 

Author(s): Corrado Poggesi, Carolyn Y Ho

Journal: J. Muscle Res. Cell. Motil.. 2014 Feb;35(1):37-45.

 

Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomere genes. As such, HCM provides remarkable opportunities to study how changes to the heart's molecular motor apparatus may influence cardiac structure and function. Although the genetic basis of HCM is well-described, ...

Last Updated: 9 Apr 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

French Hypertrophic Cardiomyopathy Observatory
 

Status: Recruiting

Condition Summary: Hypertrophic Cardiomyopathy

 

Last Updated: 12 Feb 2015

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Effect of GS-6615 on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy
 

Status: Recruiting

Condition Summary: Hypertrophic Cardiomyopathy

 

Last Updated: 20 Mar 2015

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Assessment of Wall Thickness in Hypertrophic Cardiomyopathy
 

Status: Recruiting

Condition Summary: Hypertrophic Cardiomyopathy

 

Last Updated: 6 Apr 2015

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