PLN Genetic Mutation Awareness

22/06/2026

❤️ Understanding Arrhythmias: When Your Heart's Rhythm Changes ❤️

Your heart has its own electrical system that keeps it beating in a steady rhythm. When that rhythm becomes too fast, too slow, or irregular, it's called an arrhythmia.

⚡ Bradycardia – A heart rate that's too slow (typically below 60 bpm)

⚡ Tachycardia – A heart rate that's too fast (typically above 100 bpm)

⚡ Supraventricular Arrhythmias – Abnormal rhythms that start in the upper chambers of the heart (atria)

⚡ Ventricular Arrhythmias – Abnormal rhythms that start in the lower chambers of the heart (ventricles) and can be life-threatening

⚡ Atrial Fibrillation (AFib) – An irregular, often rapid rhythm that can increase the risk of stroke and heart failure

⚡ Atrial Flutter – Similar to AFib, but with a more organized electrical pattern

For individuals living with PLN-related heart disease, understanding arrhythmias is especially important, as changes in heart rhythm may be one of the earliest signs of disease progression. Knowing the symptoms such as palpitations, dizziness, fainting, shortness of breath, or unexplained fatigue can help you seek medical attention sooner.

💙 If you've experienced an arrhythmia, you're not alone. Awareness, monitoring, and ongoing research continue to improve outcomes for those living with inherited heart conditions.

03/06/2026

What is Fibrosis?

Fibrosis is the development of scar tissue within the heart muscle. When heart cells become damaged, the body attempts to repair the injury, but unlike healthy heart muscle, scar tissue cannot contract or conduct electrical signals normally.

Think of your heart's electrical system like a network of roads carrying traffic. In a healthy heart, electrical signals travel smoothly along these roads, telling the heart when and how to beat. Fibrosis creates "roadblocks" within that network. Instead of flowing directly to their destination, electrical signals may slow down, become disrupted, get stuck, or take abnormal routes around the scar tissue. In some cases, there is no effective detour at all.

These disruptions can lead to dangerous arrhythmias, causing the heart to beat too fast, too slow, or irregularly. Over time, fibrosis can also make the heart muscle stiffer and weaker, reducing its ability to pump blood efficiently and contributing to heart failure.

In PLN-R14del cardiomyopathy, fibrosis is one of the hallmark features of the disease and may begin developing long before symptoms are noticeable. This is why regular cardiac monitoring, including cardiac MRI scans, is so important. Detecting fibrosis early can help physicians better understand a person's risk and guide treatment decisions.

While fibrosis cannot currently be reversed, researchers are actively studying PLN and the processes that lead to scar tissue formation, bringing us closer to treatments that may one day prevent or slow its progression.

22/04/2026

https://secure.4hcm.org/np/clients/4hcm/event.jsp?forwardedFromSecureDomain=1&event=4537

The Genetic Cardiomyopathy Awareness Consortium worked with the Hypertrophic Cardiomyopathy Association (HCMA) on a patient survey to help make the Food and Drug Administration (FDA) better aware of all types of cardiomyopathy and the lived patient experience.

This Externally Led Patient-Focused Drug Development (EL-PFDD) initiative aims to provide a focused understanding of genetic cardiomyopathies—their burdens, their impact on daily life, and patient perspectives on current and emerging treatments, including advanced genetically based therapies.

Join us on April 23 for a webinar. The free event will bring the patient experience directly into research and FDA discussions.

👉 Register for the webinar

Thank you for helping ensure that patient voices are heard.

Your Bighearted patient experience will convey the importance and urgency of new therapies to the Food & Drug Administration (FDA), researchers, pharma, healthcare providers, and federal regulators, leveraging the unique power of your lived experience.

12/03/2026

Think of your heart like a daily commute: avocados help keep the roads clear by lowering the sticky cholesterol that can clog arteries. Berries act like a protective coat for your vessels, calming irritation and keeping them flexible. Nuts give steady support, helping blood pressure stay even and adding fiber that clears away excess cholesterol. Whole grains work in the background, slowing sugar spikes and helping your body ditch the extra cholesterol it doesn’t need. Simple swaps, small bites, and your heart gets a smoother ride, day after day.

10/02/2026

February is American Heart Month ❤️

A time to raise awareness, honor the journeys of those living with heart disease, remember the lives impacted, and stand together in support of families, survivors, and those we’ve lost.

Heart disease doesn’t always look the same. It affects people of every age, every background, and every story. For some, it means daily medications and monitoring. For others, it means genetic testing, lifestyle changes, procedures, or learning to live with the unknown. And for many, it means loving and supporting someone who carries this diagnosis.

This month is about education, early detection, advocacy, and community. It’s about reminding each other to listen to our bodies, learn our family history, prioritize our health, and check in on the people we love.

To everyone living with heart disease: you are strong, you are seen, and you are not alone. 🫀

We stand with you this month and every month

30/12/2025

As we welcome the new year, we reflect on the progress made and the work still ahead. Here’s to continued awareness, research, and community in the year to come.

What are your New Year’s resolutions for 2026?

25/12/2025

This holiday season, we honor the strength of families living with PLN and the researchers working toward better treatments and a cure. Thank you for walking this journey with us. Warm holiday wishes from the PLN Heart Foundation