Familial isolated dilated cardiomyopathy

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Familial isolated dilated cardiomyopathy

ORPHA:154Disease

Also called Familial or idiopathic dilated cardiomyopathy

What it is

A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.

Key facts

Prevalence
1-5 / 10 000 (Europe)
Age of onset
All ages
Inheritance
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ABCC9Disease-causing germline mutation(s)
ACTC1Disease-causing germline mutation(s)
ACTN2Disease-causing germline mutation(s)
ANKRD1Disease-causing germline mutation(s)
BAG3Disease-causing germline mutation(s)
BAG5Disease-causing germline mutation(s) (loss of function)
C10ORF71Disease-causing germline mutation(s)
CAP2Disease-causing germline mutation(s)
CRYABDisease-causing germline mutation(s)
CSRP3Disease-causing germline mutation(s)
DESDisease-causing germline mutation(s)
DMDDisease-causing germline mutation(s)
DOLKDisease-causing germline mutation(s) (loss of function)
DSG2Disease-causing germline mutation(s)
DSPDisease-causing germline mutation(s)
FHL2Disease-causing germline mutation(s)
FKTNDisease-causing germline mutation(s)
FLNCDisease-causing germline mutation(s)
GATAD1Disease-causing germline mutation(s)
GET3Disease-causing germline mutation(s) (loss of function)
HAND2Disease-causing germline mutation(s) (loss of function)
JPH2Disease-causing germline mutation(s)
LAMA4Disease-causing germline mutation(s)
LDB3Disease-causing germline mutation(s)
LMNADisease-causing germline mutation(s)
LMOD2Disease-causing germline mutation(s)
MYBPC3Disease-causing germline mutation(s)
MYH6Disease-causing germline mutation(s)
MYH7Disease-causing germline mutation(s)
MYPNDisease-causing germline mutation(s)
NEXNDisease-causing germline mutation(s) (loss of function)
NRAPDisease-causing germline mutation(s)
PLNDisease-causing germline mutation(s)
PPCSDisease-causing germline mutation(s)
PRDM16Disease-causing germline mutation(s)
PSEN1Disease-causing germline mutation(s)
PSEN2Disease-causing germline mutation(s)
RAF1Disease-causing germline mutation(s)
RBM20Disease-causing germline mutation(s)
RPL3LDisease-causing germline mutation(s)
SCN5ADisease-causing germline mutation(s) (gain of function)
SDHADisease-causing germline mutation(s)
SGCDDisease-causing germline mutation(s)
TAF1ADisease-causing germline mutation(s)
TAFAZZINDisease-causing germline mutation(s)
TCAPDisease-causing germline mutation(s)
TMPODisease-causing germline mutation(s)
TNNC1Disease-causing germline mutation(s)
TNNI3Disease-causing germline mutation(s)
TNNT2Disease-causing germline mutation(s)
TPM1Disease-causing germline mutation(s)
TTNDisease-causing germline mutation(s)
TXNRD2Disease-causing germline mutation(s) (loss of function)
VCLDisease-causing germline mutation(s)
VEZF1Disease-causing germline mutation(s)

ICD-10 codes

I42.0filed under a broader ICD-10 category — shared with 8 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0015470MONDO 15470MONDO 700335OMIM 115200OMIM 302045OMIM 600884OMIM 601154OMIM 601493OMIM 601494OMIM 604145OMIM 604288OMIM 604765OMIM 605582OMIM 606685OMIM 607482OMIM 608569OMIM 609909OMIM 609915OMIM 611407OMIM 611615OMIM 611878OMIM 611879OMIM 611880OMIM 612158OMIM 612877OMIM 613122OMIM 613172OMIM 613252OMIM 613286OMIM 613424OMIM 613426OMIM 613642OMIM 613694OMIM 613697OMIM 613881OMIM 614672OMIM 615184OMIM 615235OMIM 615248OMIM 615373OMIM 615396OMIM 615916OMIM 617047OMIM 618189OMIM 619371OMIM 619492OMIM 619747OMIM 619897OMIM 620203OMIM 620462OMIM 621595UMLS C5679590

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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