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<span>X-linked dilated cardiomyopathy</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/x-linked-dilated-cardiomyopathy/</span>
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<h1>X-linked dilated cardiomyopathy</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>X-linked dilated cardiomyopathy is a form of <a class="image-modal" data-alt="A cross-section of various structures that make up the normal heart." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0002LE_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002LE" data-sourceurl="https://www.nlm.nih.gov/" data-title="Normal heart anatomy" href="https://medlineplus.gov/images/PX0002LE_PRESENTATION.jpeg" id="PX0002LE_1" title="Show image">heart<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> disease. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and <a class="image-modal" data-alt="Photo of edema in a leg and foot, showing swelling and discoloration, with lymph fluid seeping from a minor scratch." data-caption="" data-credit="Lost Mountain Studio/Shutterstock.com" data-filepath="images/PX00013O_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00013O" data-sourceurl="" data-title="Edema of the leg and foot" href="https://medlineplus.gov/images/PX00013O_PRESENTATION.jpeg" id="PX00013O_2" title="Show image">swelling of the legs and feet<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. In males with X-linked dilated cardiomyopathy, heart problems usually develop early in life and worsen quickly, leading to heart failure in adolescence or early adulthood. In affected females, the condition appears later in life and worsens more slowly.</p><p>X-linked dilated cardiomyopathy is part of a spectrum of related conditions caused by mutations in the <i><a data-pid="17331" href="https://medlineplus.gov/genetics/gene/dmd/">DMD</a></i> gene. The other conditions in the spectrum, <a data-pid="14581" href="https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy/">Duchenne and Becker muscular dystrophy</a>, are characterized by progressive <a class="image-modal" data-alt="Illustration comparing a normal biceps to a shrunken biceps in an individual with muscular dystrophy" data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX000110_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000110" data-sourceurl="" data-title="Dystrophic arm muscle" href="https://medlineplus.gov/images/PX000110_PRESENTATION.jpeg" id="PX000110_5" title="Show image">weakness and wasting of muscles<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> used for movement (<a class="image-modal" data-alt="Diagram showing structure of skeletal muscles" data-caption="" data-credit="sciencepics/Shutterstock.com" data-filepath="images/PX00019C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00019C" data-sourceurl="" data-title="Skeletal muscle anatomy" href="https://medlineplus.gov/images/PX00019C_PRESENTATION.jpeg" id="PX00019C_6" title="Show image">skeletal muscles<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) in addition to heart disease. People with X-linked dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing. Based on these skeletal muscle changes, X-linked dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>X-linked dilated cardiomyopathy appears to be an uncommon condition, although its prevalence is unknown.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>X-linked dilated cardiomyopathy results from mutations in the <i><a data-pid="17331" href="https://medlineplus.gov/genetics/gene/dmd/">DMD</a></i> gene. This gene provides instructions for making a protein called <a class="image-modal" data-alt="Illustration of the dystrophin molecule, which connects the basal lamina and cytoskeleton in muscle fibers." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000PW_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000PW" data-sourceurl="" data-title="Dystrophin in muscle fibers" href="https://medlineplus.gov/images/PX0000PW_PRESENTATION.jpeg" id="PX0000PW_2" title="Show image">dystrophin<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. The mutations responsible for X-linked dilated cardiomyopathy preferentially affect the activity of dystrophin in <a class="image-modal" data-alt="Illustrations of skeletal muscle, smooth muscle, and cardiac muscle." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0000Y8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000Y8" data-sourceurl="" data-title="Types of muscle fiber" href="https://medlineplus.gov/images/PX0000Y8_PRESENTATION.jpeg" id="PX0000Y8_3" title="Show image">cardiac muscle cells<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. As a result of these mutations, affected individuals typically have little or no functional dystrophin in the heart. Without enough of this protein, cardiac muscle cells become damaged as the heart muscle repeatedly contracts and relaxes. The damaged muscle cells weaken and die over time, leading to the heart problems characteristic of X-linked dilated cardiomyopathy.</p><p>The mutations that cause X-linked dilated cardiomyopathy often lead to reduced amounts of dystrophin in <a class="image-modal" data-alt="Diagram showing structure of skeletal muscles" data-caption="" data-credit="sciencepics/Shutterstock.com" data-filepath="images/PX00019C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00019C" data-sourceurl="" data-title="Skeletal muscle anatomy" href="https://medlineplus.gov/images/PX00019C_PRESENTATION.jpeg" id="PX00019C_4" title="Show image">skeletal muscle cells<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. However, enough of this protein is present to prevent weakness and wasting of the skeletal muscles.</p><p>Because X-linked dilated cardiomyopathy results from a shortage of dystrophin, it is classified as a dystrophinopathy.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the gene associated with X-linked dilated cardiomyopathy</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/dmd/">DMD</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="inheritance">
|
||
<h2>Inheritance</h2>
|
||
|
||
<section><div class="mp- mp-content"><p>As its name suggests, X-linked dilated cardiomyopathy has an X-linked pattern of inheritance. The <i><a data-pid="17331" href="https://medlineplus.gov/genetics/gene/dmd/">DMD</a></i> gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell usually leads to relatively mild heart disease that appears later in life. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes more severe signs and symptoms that occur earlier in life. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="synonyms">
|
||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>CMD3B</li> <li>Dilated cardiomyopathy 3B</li> <li>DMD-associated dilated cardiomyopathy</li> <li>DMD-related dilated cardiomyopathy</li> <li>XLCM</li> <li>XLDC</li>
|
||
</ul>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="resources">
|
||
<h2>Additional Information & Resources</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3668940/" target="TheNewWin">Genetic Testing Registry: Dilated cardiomyopathy 3B</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Clinical Trials</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://clinicaltrials.gov/search?cond=%22X-linked dilated cardiomyopathy%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/302045" target="TheNewWin">CARDIOMYOPATHY, DILATED, 3B; CMD3B</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Cardiomyopathy,+Dilated%5BMAJR%5D%29+AND+%28%28x-linked+dilated+cardiomyopathy%5BTIAB%5D%29+OR+%28xlcm%5BTIAB%5D%29%29+OR+%28%28DMD%5BTIAB%5D%29+AND+%28dilated+cardiomyopathy%5BTIAB%5D%29%29+OR+%28%28dystrophin%5BTIAB%5D%29+AND+%28dilated+cardiomyopathy%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Beggs AH. Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities
|
||
in X-linked dilated cardiomyopathy. Circulation. 1997 May 20;95(10):2344-7. doi:
|
||
10.1161/01.cir.95.10.2344. No abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/9170393" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Berko BA, Swift M. X-linked dilated cardiomyopathy. N Engl J Med. 1987 May
|
||
7;316(19):1186-91. doi: 10.1056/NEJM198705073161904. <a href="https://pubmed.ncbi.nlm.nih.gov/3574369" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Cohen N, Muntoni F. Multiple pathogenetic mechanisms in X linked dilated
|
||
cardiomyopathy. Heart. 2004 Aug;90(8):835-41. doi: 10.1136/hrt.2003.023390. <a href="https://pubmed.ncbi.nlm.nih.gov/15253946" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1768363/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. 2000 Sep 5 [updated 2022
|
||
Jan 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A,
|
||
editors. GeneReviews(R) [Internet]. Seattle (WA): University of
|
||
Washington, Seattle; 1993-2025. Available from
|
||
http://www.ncbi.nlm.nih.gov/books/NBK1119/
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/20301298" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Ferlini A, Sewry C, Melis MA, Mateddu A, Muntoni F. X-linked dilated
|
||
cardiomyopathy and the dystrophin gene. Neuromuscul Disord. 1999 Jul;9(5):339-46.
|
||
doi: 10.1016/s0960-8966(99)00015-2. <a href="https://pubmed.ncbi.nlm.nih.gov/10407857" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several
|
||
proteins, multiple phenotypes. Lancet Neurol. 2003 Dec;2(12):731-40. doi:
|
||
10.1016/s1474-4422(03)00585-4. <a href="https://pubmed.ncbi.nlm.nih.gov/14636778" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Nakamura A. X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of
|
||
Dystrophinopathy. Pharmaceuticals (Basel). 2015 Jun 9;8(2):303-20. doi:
|
||
10.3390/ph8020303. <a href="https://pubmed.ncbi.nlm.nih.gov/26066469" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491663/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi
|
||
S, Perini G, Gualandi F, Ferlini A. The absence of dystrophin brain isoform
|
||
expression in healthy human heart ventricles explains the pathogenesis of 5'
|
||
X-linked dilated cardiomyopathy. BMC Med Genet. 2012 Mar 28;13:20. doi:
|
||
10.1186/1471-2350-13-20. <a href="https://pubmed.ncbi.nlm.nih.gov/22455600" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3331845/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Posafalvi A, Herkert JC, Sinke RJ, van den Berg MP, Mogensen J, Jongbloed JD,
|
||
van Tintelen JP. Clinical utility gene card for: dilated cardiomyopathy (CMD).
|
||
Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.276. Epub 2012 Dec 19.
|
||
No abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/23249954" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778334/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, McCabe ER,
|
||
Swift M. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage
|
||
to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.
|
||
Circulation. 1993 Jun;87(6):1854-65. doi: 10.1161/01.cir.87.6.1854. <a href="https://pubmed.ncbi.nlm.nih.gov/8504498" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
</ul>
|
||
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|
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|
||
data-title="Abnormalities of the heart muscle"
|
||
data-caption=""
|
||
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|
||
data-alt="Illustration of heart muscle diseases: myocarditis with inflammation of the heart muscle, hypertrophic cardiomyopathy with thickened heart muscle, and dialted cardiomyiopathy with weakened heart muscle and an enlarged left ventricle."
|
||
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|
||
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<li><a href="https://medlineplus.gov/ency/article/002048.htm">Genetics</a></li>
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