{"id":89124,"date":"2026-03-11T08:13:23","date_gmt":"2026-03-11T14:13:23","guid":{"rendered":"https:\/\/www.uchealth.org\/today\/?p=89124"},"modified":"2026-03-17T13:13:33","modified_gmt":"2026-03-17T19:13:33","slug":"genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease","status":"publish","type":"post","link":"https:\/\/www.uchealth.org\/today\/genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease\/","title":{"rendered":"When heart disease runs in the family, genetic testing can catch cardiomyopathy early"},"content":{"rendered":"<div style=\"margin-top: 0px; margin-bottom: 0px;\" class=\"sharethis-inline-share-buttons\" ><\/div><figure id=\"attachment_89193\" aria-describedby=\"caption-attachment-89193\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-89193\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/03\/10133640\/UCHealth_ZemljaksBiobank00138-web.webp\" alt=\"Cardiomyopathies that lead to heart failure and arrhythmia-driven sudden cardiac arrest can run in families, as it did with Ed Zemljak\u2019s. Genetic testing of close relatives can be life-saving \u2014 as it was for his son Zach. Photo by Cyrus McCrimmon, for UCHealth.\" width=\"640\" height=\"424\" \/><figcaption id=\"caption-attachment-89193\" class=\"wp-caption-text\">Cardiomyopathies that lead to heart failure and arrhythmia-driven sudden cardiac arrest can run in families, as it did with Ed Zemljak\u2019s. Genetic testing of close relatives can be life-saving \u2014 as it was for his son Zach. Photo by Cyrus McCrimmon, for UCHealth.<\/figcaption><\/figure>\n<p>Before we get into the story of how Zach Zemljak\u2019s long-deceased grandfather probably saved Zach\u2019s life, a public service announcement: If you have close relatives who have died young from heart failure or sudden heart issues, seek genetic testing as soon as possible.<br \/>\n<div class=\"su-callout-box col-xs-12 col-sm-6 right\" style=\"background-color:#dce4e7; color:#2e3b44;\">\n<h4><strong>Participating in the biobank is easy. How to get started.<\/strong><\/h4>\n<ul>\n<li>Join the biobank by signing a consent form in your <a title=\"https:\/\/mychart.uchealth.org\/MYCHART\/Home\/LogOut?postloginurl=fdiredirect?webid=WP-24DrUuwClF4ynTbPmXC1i9PA-3D-3D-24EhON06K-2BLqQp50DkcIx9pHq8dYBDhlTG66G-2Fa-2BwyHc0-3D&amp;mobileaction=https%3A%2F%2Fexit.uchealth.org%2Fresearchopportunities\" href=\"https:\/\/mychart.uchealth.org\/MYCHART\/Home\/LogOut?postloginurl=fdiredirect?webid=WP-24DrUuwClF4ynTbPmXC1i9PA-3D-3D-24EhON06K-2BLqQp50DkcIx9pHq8dYBDhlTG66G-2Fa-2BwyHc0-3D&amp;mobileaction=https%3A%2F%2Fexit.uchealth.org%2Fresearchopportunities\" target=\"_blank\" rel=\"noopener noreferrer\" data-outlook-id=\"bd8fd289-8289-4087-a39b-569294b465ba\" data-auth=\"NotApplicable\" data-linkindex=\"0\">My Health Connection Account.<\/a><\/li>\n<li>You must be a UCHealth patient who is age 18 or older.<\/li>\n<li>After you sign up, during an upcoming visit that requires a blood draw, a medical provider will collect an extra vial of blood for the biobank.<\/li>\n<li>Learn more about\u00a0<a title=\"https:\/\/www.uchealth.org\/services\/biobank\/\" href=\"https:\/\/www.uchealth.org\/services\/biobank\/\" target=\"_blank\" rel=\"noopener noreferrer\" data-outlook-id=\"09067291-a022-44c7-a66c-6a892055e0d6\" data-auth=\"NotApplicable\" data-linkindex=\"1\">the biobank<\/a>.<\/li>\n<\/ul>\n<\/div>\n<p>You can get help through <a id=\"\" href=\"https:\/\/www.uchealth.org\/locations\/uchealth-adult-genetics-clinic-university-of-colorado-hospital\/\" target=\"_blank\" rel=\"noopener\">UCHealth<\/a> or elsewhere. The DCM Foundation\u2019s <a id=\"\" href=\"https:\/\/geneticcardiomyopathy.org\/\" target=\"_blank\" rel=\"noopener\">Genetic Cardiomyopathy Awareness Consortium<\/a> can also assist people.<\/p>\n<p>Perhaps half of cardiomyopathies \u2014 diseases of heart muscle \u2014 have genetic causes, with nearly two dozen mutations now implicated. Caught early, medicines, medical devices and lifestyle changes can slow and even reverse damage that can lead to heart failure and sudden deaths caused by cardiomyopathy-related arrhythmias.<\/p>\n<p>The sooner you identify heritable cardiomyopathies, the better, says <a href=\"https:\/\/www.uchealth.org\/provider\/luisa-mestroni-md\/\">Dr. Luisa Mestroni<\/a>, a prominent genetic cardiomyopathy expert and a <a id=\"\" href=\"https:\/\/som.cuanschutz.edu\/Profiles\/Faculty\/Profile\/18904\" target=\"_blank\" rel=\"noopener\">professor of cardiology<\/a> at <a href=\"https:\/\/medschool.cuanschutz.edu\/\">University of Colorado Anschutz School of Medicine<\/a>\u00a0who cares for patients at <a href=\"https:\/\/www.uchealth.org\/locations\/uchealth-university-of-colorado-hospital-uch\/\">UCHealth University of Colorado Hospital<\/a>. Despite that, only a tiny minority of people harboring these mutations actually get genetic testing.<\/p>\n<h2><strong>Biobank study delivers critical genetic insight into disease-causing genes<\/strong><\/h2>\n<p>Zach was lucky. His father Ed, now 68, was hospitalized at University of Colorado Hospital in April 2023. A member of his care team asked if he would be interested in participating in the Colorado Center for Personalized Medicine\u2019s <a id=\"\" href=\"https:\/\/www.uchealth.org\/services\/biobank\/\" target=\"_blank\" rel=\"noopener\">biobank<\/a> study. Ed remembered a conversation he once had with his father. Ed\u2019s dad had told him that he had agreed to participate in a clinical trial. Ed asked, \u201cWhy would you want to do that?\u201d<\/p>\n<p>\u201cHe said, \u2018Because I can help somebody else,\u2019\u201d Ed recalled.<\/p>\n<p>So, Ed said \u201cyes,\u201d and his results from the biobank study would help somebody else. And not just anybody.<\/p>\n<p>Ed has a mutation in the FLNC (filamin C) gene. When the biobank spots such a <a id=\"\" href=\"https:\/\/medschool.cuanschutz.edu\/cobiobank\/return-of-results\/results-s-f\/-in-category\/widget\/render\/category\/resulttypes\/Disease%20Risk\/1\" target=\"_blank\" rel=\"noopener\">disease-causing gene<\/a>, it lets participants know. FLNC encodes a protein critical to the structural integrity and electrical signaling of heart muscle. Tests showed Ed\u2019s heart function to be unaffected. But he and his wife, Renee, recognized that the FLNC mutation might explain dark moments in Ed\u2019s family history. His mother had collapsed and died of an apparent cardiac arrest at age 56. A cousin on his mother\u2019s side had died of heart failure at 38.<\/p>\n<p>Perhaps genetic cardiomyopathy, in which FLNC and 20 other <a href=\"https:\/\/www.uchealth.org\/today\/biobank-delivers-vital-genetic-info-saving-lives-improving-patient-care\/\">genes the biobank tests for<\/a> are implicated, had been the cause of those premature deaths in the family. In that case, Zach could be at risk.<\/p>\n<figure id=\"attachment_89196\" aria-describedby=\"caption-attachment-89196\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-89196\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/03\/10133745\/UCHealth_ZemljaksBiobank00013-web.webp\" alt=\"From left, Renee, Ed, Zach, and Caitlin Zemljak with goldendoodle Marty. Photo by Cyrus McCrimmon, for UCHealth.\" width=\"640\" height=\"453\" \/><figcaption id=\"caption-attachment-89196\" class=\"wp-caption-text\">From left, Renee, Ed, Zach, and Caitlin Zemljak with goldendoodle Marty. Photo by Cyrus McCrimmon, for UCHealth.<\/figcaption><\/figure>\n<h2><strong>Catching genetic cardiomyopathy early is key<\/strong><\/h2>\n<p>Zach, now 39, was busy working as an architect and felt fine. Yes, his jogs around Denver\u2019s Washington Park felt a bit tougher than in the past, but he chalked it up to getting older. His days as a self-described \u201cadrenaline junkie\u201d \u2014 as a sponsored inline skater who dabbled in cliff jumping \u2014 were long behind him, anyway (\u201cwe called him our walking medical bill,\u201d Renee joked, sort of).<\/p>\n<figure id=\"attachment_89197\" aria-describedby=\"caption-attachment-89197\" style=\"width: 250px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-89197\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/03\/10133808\/Dr-Luisa-Mestroni-biobank-ern.webp\" alt=\"Dr. Luisa Mestroni Photo courtesy of Dr. Luisa Mestroni\" width=\"250\" height=\"303\" \/><figcaption id=\"caption-attachment-89197\" class=\"wp-caption-text\">Dr. Luisa Mestroni<br \/>Photo courtesy of Dr. Luisa Mestroni<\/figcaption><\/figure>\n<p>It was February 2025 before Zach took advantage of a <a id=\"\" href=\"https:\/\/cctsi.cuanschutz.edu\/\" target=\"_blank\" rel=\"noopener\">Colorado Clinical and Translational Sciences Institute<\/a> program that provides no-cost genetic testing, labs and echocardiogram testing for immediate family members of those found to have a mutation implicated in genetic cardiomyopathy.<\/p>\n<p>\u201cCatching it earlier means that, often, relatives have a better prognosis than the patient originally diagnosed,\u201d Mestroni said.<\/p>\n<p>Zach indeed had the FLNC mutation, and despite feeling fine, his heart was pumping less than half as much blood with each beat as it should have been (technically, a left-ventricle ejection fraction of 34%, as opposed to the normal 55% to 70%). There was further testing under Mestroni\u2019s watch, including a stress test, an MRI and two weeks with a <a id=\"\" href=\"https:\/\/medlineplus.gov\/ency\/article\/003877.htm\" target=\"_blank\" rel=\"noopener\">Holter monitor<\/a> to track his heart rhythms. That led to a diagnosis of dilated cardiomyopathy.<\/p>\n<p>Whereas another common form of hereditary cardiomyopathy, <a id=\"\" href=\"https:\/\/www.uchealth.org\/diseases-conditions\/hypertrophic-cardiomyopathy\/\" target=\"_blank\" rel=\"noopener\">hypertrophic cardiomyopathy<\/a>, thickens the heart muscle, dilated cardiomyopathy thins and stretches it.<\/p>\n<p>Dilated cardiomyopathy is particularly scary because it\u2019s even more prone than hypertrophic cardiomyopathy to cause electrical problems that can trigger sudden arrhythmias that stop the heart from pumping blood and can kill without warning.<\/p>\n<p>\u201cIt forms fibrosis in your heart muscle that is conductive, so the electrical currents in your heart can get looped,\u201d Zach said.<\/p>\n<h2><strong>An implant and medications combine to combat dilated cardiomyopathy<\/strong><\/h2>\n<p>Mestroni and colleagues use a predictive risk calculator including variables such as ejection fraction, numbers of and types of arrythmias, age, gender and more to predict the risk of a \u201cmajor arrhythmic event\u201d in the next five years. Zach\u2019s risk was high enough that they referred him to the UCHealth electrophysiology team. In October 2025, he received an implanted device called a cardiac resynchronization therapy with defibrillator, or <a id=\"\" href=\"https:\/\/www.patientdecisionaid.org\/icd-crt-2\/\" target=\"_blank\" rel=\"noopener\">CRT-D<\/a>. The device keeps tabs on his heart\u2019s chambers and electrically nudges them into sync; if a major arrhythmic event happens, it can also provide a jolt for a cardiac reboot. That hasn\u2019t happened yet, Zach says.<\/p>\n<p>Medications are also in play. Zach\u2019s initial impulse was to resist taking a suite of drugs.<\/p>\n<p>\u201cHe\u2019s the kind of person who doesn\u2019t like to take Tylenol because he thinks it messes with his mental clarity,\u201d his wife, Caitlin, said.<\/p>\n<p>But Zach recognized the value of combining four primary medication classes to treat dilated cardiomyopathy and has been diligent in taking those meds. As Mestroni described, beta blockers improve the physiology of the heart at the molecular level; <a id=\"\" href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10423183\/\" target=\"_blank\" rel=\"noopener\">ARNIs<\/a> help heart muscle offset dysfunctional heart-muscle biology; spironolactone reduces the risk of sudden cardiac death and coaxes the heart\u2019s left ventricle back toward a normal shape; and <a id=\"\" href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12463906\/\" target=\"_blank\" rel=\"noopener\">SGLT-2 inhibitors<\/a>, originally for diabetes treatment, help the heart in several ways.<\/p>\n<figure id=\"attachment_89195\" aria-describedby=\"caption-attachment-89195\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-89195\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/03\/10133721\/UCHealth_ZemljaksBiobank00086-web.webp\" alt=\"\u00a0Thanks to the Colorado Center for Personalized Medicine\u2019s biobank study, subsequent genetic testing, medications for dilated cardiomyopathy, and lifestyle changes, Zach\u2019s prognosis is good. Photo by Cyrus McCrimmon, for UCHealth.\" width=\"640\" height=\"452\" \/><figcaption id=\"caption-attachment-89195\" class=\"wp-caption-text\">Thanks to the Colorado Center for Personalized Medicine\u2019s biobank study, subsequent genetic testing, medications for dilated cardiomyopathy, and lifestyle changes, Zach\u2019s prognosis is good. Photo by Cyrus McCrimmon, for UCHealth.<\/figcaption><\/figure>\n<h2><strong>Lifestyle changes also help protect the heart<\/strong><\/h2>\n<p>Zach\u2019s also doing his part. While he\u2019s avoiding heart-stressing high-intensity exercise as Mestroni advises, he\u2019s out biking or on his Peloton five to six days a week, he\u2019s tracking macronutrients, and has changed his diet to focus on healthy fats. He also stopped drinking alcohol.<\/p>\n<p>\u201cMy lifestyle has changed dramatically,\u201d Zach said.<\/p>\n<p>The adrenaline junkie in him has had to say goodbye to things like skydiving, which he dabbled in.<\/p>\n<p>\u201cThe electrophysiologist was kind of joking with us, and was like, \u2018Well, no jumping out of planes anymore,\u2019 Caitlin said. \u201cAnd Zach was like, \u2018Wait, that\u2019s a problem?\u2019\u201d<\/p>\n<p>Mestroni says Zach\u2019s prognosis is good, and that the combination of Zach\u2019s efforts, the medications and the backstop of the CRT-D implant can \u201cwork very well for many, many years.\u201d<\/p>\n<p>A round of testing in early March found Zach\u2019s heart to have responded exceptionally well to the combination of medications, lifestyle changes and the CRT-D: His left ventricle ejection fraction had risen to 50%.<\/p>\n<p>Mestroni, whose team played a key role in <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/28008423\/\">identifying<\/a> the FLNC gene\u2019s complicity in dilated cardiomyopathy, is optimistic that emerging gene therapies might reverse genetic cardiomyopathies before too many years pass.<\/p>\n<p>In the meantime, the Zemljaks hope their story helps drive awareness of how important it is for families with histories of heart failure or sudden cardiac death to get genetic testing done.<\/p>\n<p>\u201cAnd we hope that, with more momentum in genetic testing, eventually the research and the gene therapies will lead to a cure of the disease itself,\u201d Renee said.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Before we get into the story of how Zach Zemljak\u2019s long-deceased grandfather probably saved Zach\u2019s life, a public service announcement: If you have close relatives who have died young from heart failure or sudden heart issues, seek genetic testing as soon as possible. You can get help through UCHealth or elsewhere. The DCM Foundation\u2019s Genetic [&hellip;]<\/p>\n","protected":false},"author":23,"featured_media":89193,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[5],"tags":[9085,9104,47,3512],"class_list":["post-89124","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-innovative-care","tag-biobank","tag-colorado-center-for-personalized-medicine","tag-genetic-testing-and-counseling","tag-heart-and-vascular-care-cardiovascular"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.2 (Yoast SEO v27.2) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>When heart disease runs in the family, genetic testing can catch cardiomyopathy early - UCHealth Today<\/title>\n<meta name=\"description\" content=\"Genetic testing found an FLNC gene mutation and a genetic disease of the heart muscle, leading to early treatment and a strong prognosis.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.uchealth.org\/today\/genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"When heart disease runs in the family, genetic testing can catch cardiomyopathy early\" \/>\n<meta property=\"og:description\" content=\"Genetic testing found an FLNC gene mutation and a genetic disease of the heart muscle, leading to early treatment and a strong prognosis.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.uchealth.org\/today\/genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease\/\" \/>\n<meta property=\"og:site_name\" content=\"UCHealth Today\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/uchealthorg\/\" \/>\n<meta property=\"article:published_time\" content=\"2026-03-11T14:13:23+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-03-17T19:13:33+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/03\/10133640\/UCHealth_ZemljaksBiobank00138-web.jpg\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Todd Neff, for UCHealth\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@uchealth\" \/>\n<meta name=\"twitter:site\" content=\"@uchealth\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Todd Neff, for UCHealth\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"7 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.uchealth.org\/today\/genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.uchealth.org\/today\/genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease\/\"},\"author\":{\"name\":\"Todd Neff, for UCHealth\",\"@id\":\"https:\/\/www.uchealth.org\/today\/#\/schema\/person\/da7733ff5562e48e55c027d111ee5911\"},\"headline\":\"When heart disease runs in the family, genetic testing can catch cardiomyopathy early\",\"datePublished\":\"2026-03-11T14:13:23+00:00\",\"dateModified\":\"2026-03-17T19:13:33+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.uchealth.org\/today\/genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease\/\"},\"wordCount\":1424,\"publisher\":{\"@id\":\"https:\/\/www.uchealth.org\/today\/#organization\"},\"image\":{\"@id\":\"https:\/\/www.uchealth.org\/today\/genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/03\/10133640\/UCHealth_ZemljaksBiobank00138-web.webp\",\"keywords\":[\"Biobank\",\"Colorado Center for Personalized Medicine\",\"Genetic testing\",\"Heart and vascular care\"],\"articleSection\":[\"Innovative care\"],\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.uchealth.org\/today\/genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease\/\",\"url\":\"https:\/\/www.uchealth.org\/today\/genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease\/\",\"name\":\"When heart disease runs in the family, genetic testing can catch cardiomyopathy early - 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