PLN Genetic Mutation Awareness

04/22/2026

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.

03/12/2026

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.

02/10/2026

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

12/30/2025

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?

12/25/2025

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

12/19/2025

PLN R14Del is a rare genetic heart condition, but its impact is anything but small. One mutation can affect how heart muscle cells handle calcium, setting off changes that influence heart structure, rhythm, and long-term function.

What makes PLN especially challenging is its variability. Some carriers feel well for years, while others develop arrhythmias or cardiomyopathy early. Two people in the same family, carrying the same mutation, can have completely different journeys.

This unpredictability is why genetic testing, regular cardiac monitoring, and research matter so much. Understanding PLN earlier allows for surveillance, prevention, and life-saving intervention; before symptoms become severe.

At the PLN Foundation, we’re committed to education, connection, and accelerating research so genetics don’t dictate outcomes in silence.

Knowledge changes trajectories

12/14/2025

12/14/2025

12/13/2025

Use the following link to view the interview (in English):
https://www.youtube.com/watch?v=yc3dTPVsTSM

Dr. Dean Jansen, a retired orthopedic surgeon, secretary of the PLN heart foundation, and also a carrier of the gene. He will be involved in the upcoming PLN information day via zoom (the zoom link information is located on the titled post 'PLN Information Day').

In this interview they discuss what PLN is and the changes that occur with the mutation and how it affects carriers or those around them.

Dr. Jansen goes into detail about his personal experiences and how it has affected his life. It is important to keep in mind every case is different, some may relate to his case and symptoms and others may have the mutation without symptoms.