What's familial dilated cardiomyopathy?
Dilated cardiomyopathy is a common cause of non-ischaemic heart failure carrying high morbidity and mortality, including sudden cardiac death from systolic dysfunction or from arrhythmia. Within that group sits a subset with familial disease.
| Also indexed as | ORPHA:154, MONDO:0700335 |
|---|---|
| Features mapped | 8 |
| Treatments mapped | 2 |
| Published sources | 8 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Edema
Fluid can collect in the legs as the heart's pumping falls behind. In one child with an inherited form, swelling of the lower limbs was part of the presentation that led to admission.
Arrhythmia
Abnormal rhythms of the heart's main pumping chambers occur. In the form linked to changes in the LMNA gene, these appear alongside severe heart failure and involvement of nerve and muscle.
Left ventricular systolic dysfunction
The left ventricle pumps out a smaller share of the blood it holds and measures larger than normal. In a familial dilated cardiomyopathy cohort, average ejection fraction at baseline was 28 percent and left ventricular end-diastolic diameter averaged 68 millimeters.
Dilated cardiomyopathy
The heart's pumping chambers widen over time and lose pumping strength. The course is progressive rather than fixed.
Congestive heart failure
The condition progresses to heart failure, meaning the heart cannot pump enough blood to meet the body's needs. Dilated cardiomyopathy is the third most common reason people develop heart failure.
Exertional dyspnea
Shortness of breath on exertion is often the first thing adults notice, alongside palpitations and dizziness. Affected infants instead show delayed motor and growth development, feeding difficulty, and breathlessness.
Family history of dilated cardiomyopathy
The condition runs in families, most often passed down in an autosomal dominant pattern, meaning one altered copy of a gene is enough. Familial occurrence accounts for 20 to 30 percent of all dilated cardiomyopathy.
Sudden cardiac death
Death can come suddenly. Two things account for most deaths: heart failure that keeps worsening, and sudden cardiac death arising from an abnormal rhythm of the heart's main pumping chambers, or less often from a rhythm that is too slow.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
heart transplantation
A heart transplant replaces the failing heart. Dilated cardiomyopathy linked to changes in the LMNA gene has been described as the most frequent genetic cause of dilated cardiomyopathy requiring transplantation.
Used to help with: Familial isolated dilated cardiomyopathy.
“…has been described as the most frequent DCM genetic cause requiring heart transplantation…”
implantable cardioverter-defibrillator
An implantable cardioverter-defibrillator is a device placed under the skin that detects a dangerous rhythm and shocks the heart back into rhythm. The genetic cause cannot be changed, but which gene is involved changes the threshold for implanting one.
Used to help with: Familial isolated dilated cardiomyopathy.
“Genetic substrate cannot be modified, but the presence of a peculiar type of gene mutation modifies thresholds for implantable cardioverter defibrillator (ICD) implantation.”
How to read the evidence labels
Where this comes from
This guide is built from 8 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.