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sudden cardiac failure, infantile - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sudden cardiac failure, infantile

MONDO:0014973

Also known as:PPA2 deficiencyPPA2-associated sudden cardiac deathSCFI

Overview

GeneticsAutosomal recessive · PPA2 (chr 4)

ResearchLimited published research (5 articles)

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 always present findings: Sudden cardiac death; and common findings: Bradycardia. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Myocardial fibrosis, Bradycardia, Thickened heart muscle (hypertrophic cardiomyopathy)

Genetic Landscape

PPA2 function has not been fully characterized.

Sudden cardiac failure, infantile is associated with mutations in the PPA2 gene on chromosome 4.

Diagnosis

Genetic testing for PPA2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for sudden cardiac failure, infantile.

5 publications have been identified in PubMed for sudden cardiac failure, infantile. Research spans Case Report / Case Series (80%) and Basic Science / Preclinical (20%).

Recent Publications

Fukuda H (2026). [PMID: 41232394](https://pubmed.ncbi.nlm.nih.gov/41232394/). *Leg Med (Tokyo)*. [Case Report / Case Series]
Khetrapal S (2025). [PMID: 40703559](https://pubmed.ncbi.nlm.nih.gov/40703559/). *Eur Heart J Case Rep*. [Case Report / Case Series]
Harris WA (2025). [PMID: 40486711](https://pubmed.ncbi.nlm.nih.gov/40486711/). *HeartRhythm Case Rep*. [Case Report / Case Series]
McGinn C (2025). [PMID: 39882621](https://pubmed.ncbi.nlm.nih.gov/39882621/). *Cardiol Young*. [Case Report / Case Series]
Elizondo G (2024). [PMID: 38501492](https://pubmed.ncbi.nlm.nih.gov/38501492/). *Genet Med*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 6:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617222

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Kisho

sudden cardiac failure, infantile

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Life-Threatening Delayed Myocardial Ischemia, Ventricular Arrhythmias, and SCD After PFA of AF: An Extended Case Series.

SCN5A (c.4720G> A): a rare genetic variant associated with familial sick sinus syndrome and sudden cardiac death.

sudden cardiac failure, infantile

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Life-Threatening Delayed Myocardial Ischemia, Ventricular Arrhythmias, and SCD After PFA of AF: An Extended Case Series.

SCN5A (c.4720G> A): a rare genetic variant associated with familial sick sinus syndrome and sudden cardiac death.