Overview
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a genetic heart condition caused by changes (mutations) in the LMNA gene. This gene provides instructions for making proteins called lamin A and lamin C, which help maintain the structure of the cell's nucleus. When these proteins don't work properly, the heart muscle becomes weakened and stretched (dilated), making it harder for the heart to pump blood effectively. This condition is sometimes called LMNA-related dilated cardiomyopathy or laminopathy-associated cardiomyopathy. A hallmark feature of this disease is that it affects not only the heart muscle but also the heart's electrical system. Patients often develop problems with the heart's rhythm and conduction — the way electrical signals travel through the heart. This can lead to an abnormally slow heartbeat (bradycardia), irregular heartbeats (arrhythmias), or heart block, where signals between the upper and lower chambers of the heart are delayed or blocked. Atrial fibrillation and ventricular tachycardia are particularly common and dangerous complications. Symptoms typically begin in early to mid-adulthood and may include fatigue, shortness of breath, palpitations, dizziness, and fainting. The disease tends to progress over time, and there is a significant risk of sudden cardiac death due to dangerous heart rhythms. Treatment focuses on managing heart failure with medications, implanting pacemakers or defibrillators to address rhythm problems, and in severe cases, heart transplantation. Early diagnosis through genetic testing in affected families is important because preventive measures like defibrillator implantation can be life-saving.
Key symptoms:
Shortness of breath, especially during activity or when lying downUnusual tiredness and fatigueHeart palpitations or feeling like the heart is racing or skipping beatsDizziness or lightheadednessFainting or near-fainting episodesSwelling in the legs, ankles, or feetSlow heart rateIrregular heartbeatChest pain or discomfortDifficulty exercising or reduced ability to be physically activeSudden cardiac arrest in severe casesSwollen abdomen due to fluid buildupDifficulty breathing when lying flat
Clinical phenotype terms (17)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventKardigan, Inc. — PHASE2, PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Familial dilated cardiomyopathy with conduction defect due to LMNA mutation.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Familial dilated cardiomyopathy with conduction defect due to LMNA mutation.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial dilated cardiomyopathy with conduction defect due to LMNA mutation.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my heart condition right now, and how quickly might it progress?,Do I need an implantable defibrillator (ICD) now, or can we wait and monitor?,What specific LMNA mutation do I have, and does it tell us anything about my likely disease course?,Should my family members be tested for this mutation, and how should we arrange that?,Are there any physical activities I should avoid or limit?,What symptoms should prompt me to go to the emergency room immediately?,Are there any clinical trials or new treatments being studied for LMNA-related cardiomyopathy that I might be eligible for?
Common questions about Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
What is Familial dilated cardiomyopathy with conduction defect due to LMNA mutation?
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a genetic heart condition caused by changes (mutations) in the LMNA gene. This gene provides instructions for making proteins called lamin A and lamin C, which help maintain the structure of the cell's nucleus. When these proteins don't work properly, the heart muscle becomes weakened and stretched (dilated), making it harder for the heart to pump blood effectively. This condition is sometimes called LMNA-related dilated cardiomyopathy or laminopathy-associated cardiomyopathy. A hallmark feature of this disease is
How is Familial dilated cardiomyopathy with conduction defect due to LMNA mutation inherited?
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial dilated cardiomyopathy with conduction defect due to LMNA mutation typically begin?
Typical onset of Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Familial dilated cardiomyopathy with conduction defect due to LMNA mutation?
Yes — 1 recruiting clinical trial is currently listed for Familial dilated cardiomyopathy with conduction defect due to LMNA mutation on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.