The Heart Health India Foundation (HHIF) continues to offer clarity and scientific awareness around rare and complex cardiac conditions through its dedicated educational webinar series. On 1st July 2025, HHIF hosted a focused session on LMNA-related cardiomyopathy, a genetic condition that often goes undiagnosed until it presents with severe outcomes such as heart failure or sudden cardiac arrest.
The webinar featured Dr Rogier Veltrop, PhD, an expert in LMNA mechanobiology and cardiac cell signalling, affiliated with the Cardiovascular Research Institute Maastricht and UMC Utrecht. The session was also supported by members of the LMNA Cardiac Diseases Network, with contributions from Gabriela Pacheco and Stefan Bassant, who offered additional perspectives on community support, patient education, and collaboration across bioscience and research stakeholders.
HHIF’s Continued Commitment to Genetic Heart Health
HHIF’s founder, Ram Khandelwal, had opened the session by explaining how the organisation bridges lived experience with medical knowledge. Founded after his personal heart event at age 33, HHIF is now India’s largest patient-led heart support group.
With over 3,000 members, HHIF hosts regular educational webinars, facilitates access to trusted medical professionals, and advocates for improved post-discharge care. The organisation is committed to:
- Creating awareness around under-recognised cardiac conditions
- Offering a trusted peer-led community
- Enabling early diagnosis through education
The Genetic Basis of LMNA Cardiomyopathy: A Hidden Risk
Dr Veltrop introduced the session by explaining the biology of the LMNA gene, which encodes lamin A and C proteins crucial for nuclear stability in cells. Mutations in LMNA can lead to dilated cardiomyopathy (DCM), arrhythmias, conduction block, and in some cases, sudden cardiac death. Because of its genetic nature, LMNA mutations can run in families, yet often remain undetected until late-stage symptoms occur.
Dr Veltrop highlighted:
- How LMNA mutations disrupt cardiac cell mechanics and electrical signalling
- Why early diagnosis is critical for at-risk families
- The importance of genetic screening and cascade testing
He also introduced current research efforts aiming to identify therapeutic targets and improve disease modelling using patient-derived cells.
Why Patient Engagement Matters in Rare Cardiac Conditions
The session underscored the need for integrating patient voices into research and care. Stefan Bassant outlined how the LMNA Cardiac Diseases Network supports three key stakeholder groups: patients, researchers, and bioscience collaborators.
- Patients are supported through webinars, newsletters, in-person events, and educational materials. Their lived experiences inform research direction.
- Researchers benefit from access to biobank data, funding opportunities, and training programmes designed to accelerate discovery.
- Bioscience partners are engaged through global outreach efforts and research matchmaking to build scalable and collaborative clinical models.
This structured model ensures that patients are not passive recipients of care but active participants shaping future interventions.
Real Questions from Families Facing LMNA Diagnoses
The session included input from individuals with LMNA-related cardiomyopathy or those with a family history of it. Common questions revolved around:
- “How do I know if I carry the LMNA mutation?”
- “If I feel healthy, should I still undergo screening?”
- “Is ICD (Implantable Cardioverter Defibrillator) necessary in early stages?”
- “Can lifestyle changes help prevent disease progression?”
Dr Veltrop responded by stressing the following:
- Genetic testing remains the most definitive tool for identifying LMNA mutations
- Asymptomatic carriers may still be at risk and should undergo regular cardiology check-ups
- Preventive ICD implantation is often considered based on personalised risk scores
- Lifestyle changes alone cannot prevent genetic progression, but they support overall cardiac function
Multidisciplinary Care Is Central to Managing LMNA Cardiomyopathy
Gabriela Pacheco presented a comprehensive approach to managing LMNA cardiomyopathy beyond clinical procedures. Her key message: quality of life and longevity improve when patients are supported by a diverse care team.
This includes:
- Cardiologists and electrophysiologists
- Registered dietitian nutritionists
- Physical and occupational therapists
- Mental health professionals
Most importantly, patients themselves play a central role by staying informed, adhering to care plans, and seeking second opinions when in doubt. Gabriela recommended using reliable directories and support groups, such as those listed on the LMNA Cardiac Diseases Network website.
Nutrition and Lifestyle Play a Supportive Role
While not a substitute for medication or device-based interventions, nutrition and lifestyle practices can ease symptom burden and promote better cardiac outcomes.
Key points included:
- Sodium restriction to manage fluid retention
- Heart-healthy diets rich in whole grains, legumes, and unsaturated fats
- Mind-body practices to reduce stress and improve heart rate variability
These must always be tailored under medical supervision, especially for those with low ejection fraction or arrhythmic risks.
Bridging the Gap Between Research and Patient Realities
Dr Veltrop also spoke about the importance of translational science—moving discoveries from the lab into clinical use. Patient involvement in trials, willingness to contribute to biobanks, and participation in longitudinal studies are vital.
The LMNA Cardiac Diseases Network is actively working on:
- Expanding patient registries
- Funding gene-specific studies
- Building partnerships with biotech firms to fast-track therapies
Key Takeaways:
- LMNA-related cardiomyopathy is a serious genetic condition requiring early diagnosis and continuous monitoring.
- Genetic testing is essential for individuals with a family history of heart failure or sudden cardiac arrest.
- ICDs and medication may be life-saving; decisions must be personalised with clinical oversight.
- Multidisciplinary care improves both physical and emotional outcomes.
- Lifestyle and nutrition are important complements, not substitutes, to clinical treatment.
- Trusted support networks like HHIF and LMNA Cardiac Diseases Network provide resources, community, and direction.
Frequently Asked Questions (FAQs)
- What is LMNA cardiomyopathy? It is a genetic form of dilated cardiomyopathy caused by mutations in the LMNA gene, affecting the structure and function of heart cells.
- How do I know if I have it? Genetic testing is the most accurate method. If you have a family history of unexplained heart failure or sudden death, testing is advised.
- Can it be cured? No definitive cure exists, but early diagnosis, lifestyle support, and medical devices like ICDs can significantly improve outcomes.
- Is lifestyle change enough? No, but it supports overall heart health. It should be part of a medically supervised care plan.
- Are children at risk if a parent has the mutation? Yes. LMNA mutations are often inherited in an autosomal dominant pattern, meaning each child has a 50% chance of inheriting the mutation.
- What support exists in India? HHIF offers educational sessions, support groups, and connections to global experts. The LMNA Cardiac Diseases Network also provides resources and clinical trial listings.
To learn more or connect with others navigating LMNA-related conditions, visit https://hearthealthindia.org/ or the WhatsApp Community Group https://chat.whatsapp.com/BxYQyzqfiFq4cSRj1miVTv
Heart care goes beyond hospitals—it starts with informed conversations. HHIF is proud to lead that change.
