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dilated cardiomyopathy 1V (CMD1V) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1V

MONDO:0013373

Also known as:CMD1VPSEN2 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1V

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.

GeneticsAutosomal dominant · PSEN2 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Enlarged and weakened heart (dilated cardiomyopathy); and sometimes findings: First degree atrioventricular block, Atrial fibrillation, Left bundle branch block, and Reduced left ventricular ejection fraction and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	8	First degree atrioventricular block, Atrial fibrillation, Left bundle branch block

Genetic Landscape

PSEN2 function has not been fully characterized.

Dilated cardiomyopathy 1V has limited evidence linking it to mutations in the PSEN2 gene on chromosome 1.

Diagnosis

Genetic testing for PSEN2 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 1 common feature.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613697

GARD

Genetic and Rare Diseases Info Center

GARD:15690

Questions for Your Care Team

→Should I pursue genetic testing for PSEN2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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dilated cardiomyopathy 1V

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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