sudden cardiac failure, infantile
MONDO:0014973Mondo
Findings
No curated finding names sudden cardiac failure, infantile yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Sudden cardiac deathHPOHP:0001645
- 7 of 7 reported patients
- BradycardiaHPOHP:0001662
- 3 of 7 reported patients
- Myocardial fibrosisHPOHP:0001685
- 1 of 6 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 7 reported patients
- HypotoniaHPOHP:0001252
- 1 of 7 reported patients
- MyocarditisHPOHP:0012819
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PPA2HGNC:28883
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 1930
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: sudden cardiac failure, infantile
- Also called
- infantile sudden cardiac failurePPA2-associated sudden cardiac deathSCFIsudden cardiac failure, infantile; SCFI