LVNC: We exploded our brains researching this so you don't have to.

So you might be wondering, what the heck is LVNC?! Is it a video game? A company? The next revolutionary AI going to take over the world? Sorry to sink your boat, but it’s none of those things. So what is it? LVNC stands for Left Ventricular Non-Compact Cardiomyopathy. Try saying that 10 times fast, almost impossible.

Seriously though, LVNC is a rare heart problem that affects 1 in every 700 people. To put it simply, Left Ventricular Non-Compact Cardiomyopathy is a heart condition where intuitively the left ventricle, the chamber responsible for pumping blood to the body, remains abnormally spongy instead of developing into a smooth, solid muscle like a normal heart. During fetal development, the heart starts off looking like a spongy normally compacted heart followed by a more muscular form before birth. In LVNC, that compaction doesn’t fully happen, leaving the heart wall with deep grooves and mesh-like structures that look unusual on scans (Towbin et al., 2019). The challenge is that not every spongy-looking heart is actually sick. In fact, studies using advanced cardiac MRI have found that up to 15% of people may show some degree of non-compaction, especially in athletes or pregnant individuals, where the heart changes shape under stress (Petersen et al., 2005). For some, it’s a benign variation. But for the unfortunate, it can turn for the worse. LVNC can cause: the heart to pump less effectively (heart failure), beat irregularly (arrhythmias), or even form clots that can lead to stroke (Jenni et al., 2001). The risks aren’t limited either; some studies suggest around 12% of affected adults may die or require a heart transplant, with others needing long-term monitoring or intervention (Oechslin et al., 2000). LVNC can also run in families through genetic mutations in heart-structuring genes like MYH7, MYBPC3, and TTN (Klaassen et al., 2008). When we were reading through this research, we honestly thought it was a game of luck, two people with the same mutation can have completely different outcomes, one living symptom-free, and the other developing severe complications. That almost gambling aspect to LVNC makes it so mysterious. So is it a disease? Sometimes. And other times, it’s just a quirk of heart anatomy. That’s why doctors today don’t rely on imaging alone, but consider a mix of symptoms, family history, and genetic testing to decide what it actually means for a person’s health (Aras et al., 2006). LVNC might not be the next AI breakthrough, but understanding it could be life changing.

When we started researching LVNC, we expected maybe a couple of complicated terms and some dry statistics. What we didn’t expect was the emotional chaos even though we knew the severity of heart diseases. You’ll find stories of marathon runners diagnosed after a dizzy occurrence, newborns in heart failure just days after birth, and people who never had symptoms- until one day they collapsed. One person with LVNC might live 80 years with no symptoms and another could end up in the ER before their high school graduation. There’s no clear pattern, no “typical and usual" case. That alone was enough to make our heads spin. Here’s what really blew our minds. In one study, 47% of patients diagnosed with LVNC had no symptoms when they were first diagnosed, but over time, many developed serious heart issues like arrhythmias or heart failure. Some had strokes caused by blood clots forming in the grooves of the heart. Others were told they needed an implantable cardioverter defibrillator (ICD) in their 20s. And in some rare cases, people who seemed stable one year were being evaluated for a heart transplant the next. Even the process of getting diagnosed can feel like detective work. A person might get labeled with LVNC from a single MRI, but another doctor might say they’re fine. Some cardiologists argue that LVNC is overdiagnosed, while others warn it’s being missed altogether. And then there’s the genetic side- mutations in genes like MYH7 and TTN can be linked to LVNC- but they can also show up in people with completely different heart conditions, or no condition at all. It’s not just rare- It’s messy, debated, and still not fully understood. And that’s where we realized something important; LVNC isn’t just a medical diagnosis. It’s a journey filled with emotions. It can feel like getting stuck in a never ending loop with each doctor telling you different things. “What does this mean for my future?”, “Am I safe to exercise?” , “Will my kids inherit this?”, “One doctor says I’m fine and the other says I need a heart transplant”. Our goal by writing this isn’t to pretend we have the magical answers for LVNC patients. But we are here to show them light through the mist. We’re sharing genuine patient stories, trying to talk to researchers of LVNC, and building a community where patients, families, and even people who are curious about the mysteries of LVNC can actually learn what this diagnosis means in real life. Absolutely no one should ever feel like their brain has to explode just to understand their own heart- so we’ll do it for you.

What makes LVNC so confusing isn’t just the fact that it's a rare disease, but rather on how misunderstood and underdiagnosed it can be. Most modern studies enumerate that 1 in 700 people have LVNC, whilst other studies using broader diagnostic criteria reveal that it’s actually common. (Petersen et al., 2005). Here’s why it's underdiagnosed, most practitioners and cardiologists aren’t familiar and specialized with niche heart disease like LVNC. That directly leads to patients being misdiagnosed, being told their symptoms are “nothing to worry about”, and a plethora of meaningless appointments. But why is that so bad? Well here’s an impact that’s devastating, children with delayed diagnosis means letting the LVNC trickle on their fragile bodies and missing important treatments. Similarly, in adults, no diagnosis at all means going years with unexplained symptoms such as: fatigue, shortness of breath and palpitations without ever understanding why. What shocked us the most when we were researching is this study's statistic; pediatric patients with LVNC- nearly 20% died or required a heart transplant within five years of diagnosis (Jenni et al., 2001). For those who survive, the confusion of not knowing what’s going on with your heart is scarring. There’s also no single standard for diagnosis. It’s hit or miss. One doctor might identify LVNC on an MRI, and the other using an echocardiography will completely miss it. And in communities without access to a cardiac MRI or genetic testing, people don’t know why their heart beat is irregular. That means that people aren’t just fighting weakly- they’re fighting blindly. Leading us to say awareness matters significantly because it has direct net benefits. It leads to: better research, better outcomes, and better diagnoses. Our aim by advocating awareness for LVNC is to allow patients and families to recognize abnormalities earlier within heart disease, and enable them to feel confident to speak up at a doctor’s appointment and get connected to specialists who understand what they’re dealing with. A heart attack can be a week, a day, even minutes away when you’re not pumping the blood you need and that’s why this cause is so important.
Learning new things is always fun. But learning is just the beginning. Start by following our work on Instagram @nexusheartfoundation. On our page we analyze the latest breakthroughs for bio tech with LVNC and heart disease, uncover patient stories, and are trying to interview top cardiologists to make space for real conversations about what it’s like to live with or care for someone with LVNC. We’re also building something bigger. A full website where you’ll be able to access medically reviewed resources, hear directly from those with LVNC, and find information that doesn’t feel like it was written for Albert Einstein. Through interviews, real-life experiences, and expert insight, we’re making sure LVNC has no room to breathe to make it harder to ignore. All of the funds we raise will be donated directly to Cardio-Myopathy funds such as the Lori Fund and the Heart Failure Society of America so we can support families and fuel research into better treatment and earlier diagnosis. We're just entry level so far but we are trying our best for the patients of LVNC.The more people who know, the more lives we can change. Awareness leads to action. Action leads to care. And real, timely, human care can be the difference between fear and hope. Join us in bringing LVNC out of the shadows. This starts with you.

Citations:
Petersen, S, Selvanayagam, J, Wiesmann, F. et al. Left Ventricular Non-Compaction: Insights From Cardiovascular Magnetic Resonance Imaging. JACC. 2005 Jul, 46 (1) 101–105.
https://doi.org/10.1016/j.jacc.2005.03.045

Jenni R, Oechslin E, Schneider J, et al Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathyHeart 2001;86:666-671

Jeffrey A. Towbin, Left Ventricular Noncompaction: A New Form of Heart Failure, Heart Failure Clinics, Volume 6, Issue 4, 2010, Pages 453-469, ISSN 1551-7136,
https://doi.org/10.1016/j.hfc.2010.06.005. (https://www.sciencedirect.com/science/article/pii/S1551713610000802)
Keywords: Left ventricular noncompaction; LVNC; Heart failure; Cardiomyopathy; Cardiac genetics; Sarcomere
Maron, Barry J., et al. "Contemporary Definitions and Classification of the Cardiomyopathies." Circulation, vol. 113, no. 14, 11 Apr. 2006, pp. 1807-16. Circulation, doi:10.1161/CIRCULATIONAHA.106.174287. https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.106.174287
Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 2008 Jun 3;117(22):2893-901. doi: 10.1161/CIRCULATIONAHA.107.746164. Epub 2008 May 27. PMID: 18506004. https://pubmed.ncbi.nlm.nih.gov/18506004/https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.107.746164
Article Written by - Peter Smalley, Dillon Colaso, Akshaj Katragunta