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A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.
Features include always present findings: Enlarged and weakened heart (dilated cardiomyopathy).
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 1 | Enlarged and weakened heart (dilated cardiomyopathy) |
Biomarker and diagnostic research for dilated cardiomyopathy 1Q has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for dilated cardiomyopathy 1Q.
4 publications have been identified in PubMed for dilated cardiomyopathy 1Q. Research spans Epidemiology / Natural History (50%), Diagnostic / Biomarker (25%), and Basic Science / Preclinical (25%).
van der Have O (2025). [PMID: 40820386](https://pubmed.ncbi.nlm.nih.gov/40820386/). *Pediatr Transplant*. [Epidemiology / Natural History]
Krivec N (2024). [PMID: 39572522](https://pubmed.ncbi.nlm.nih.gov/39572522/). *Cell Death Dis*. [Basic Science / Preclinical]
Amr A (2024). [PMID: 39076310](https://pubmed.ncbi.nlm.nih.gov/39076310/). *Rev Cardiovasc Med*. [Epidemiology / Natural History]
Liu C (2024). [PMID: 39318632](https://pubmed.ncbi.nlm.nih.gov/39318632/). *Front Immunol*. [Diagnostic / Biomarker]
Data assembled from 4 of 12 sources · Last updated Nov 3, 2026, 7:22 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
AI-curated news mentioning dilated cardiomyopathy 1Q
Updated Oct 12, 2026
Recent research identifies novel compound heterozygous variants in the ATAD3A gene associated with Harel-Yoon syndrome, which presents with congenital cataracts and dilated cardiomyopathy. This discovery enhances understanding of the genetic basis of this rare condition.
A recent study identifies fatal dilated cardiomyopathy and monogenic diabetes mellitus as disorders related to SMPD4 mutations. This discovery highlights the genetic underpinnings of these conditions, potentially guiding future research and therapeutic strategies.
A new study focuses on optimizing screening intervals for at-risk relatives of patients with dilated cardiomyopathy who carry TTN gene variants. This research aims to improve early detection and management strategies for familial cases of the disease.