Single coronary artery presenting dilated cardiomyopathy and hyperlipidemia with the SCN5A and APOA5 gene mutation: A case report and review of the literature
PMID: 37288251
Gene: SCN5A
HGNC ID: 10593
3 Matching Annotations
- Aug 2025
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A 55-year-old male
Case#: 55-year-old man
DiseaseAssertion: single coronary artery (SCA) and presented with dilated cardiomyopathy (DCM)
FamilyInfo: Unremarkable
ParentalTesting: NR
CasePresentingHPOs: HP:0002094, HP:0031352, HP:0001638, HP:0001644, HP:0010741
CaseHPOFreeText: chest tightness and dyspnoea after activity lasting for 2 months. CTCA showed congenital absence of the right coronary artery. TTE revealed enlargement of the left heart and cardiomyopathy. CMR revealed DCM. oedema of both lower limbs. Laboratory data in Table 1.
CaseNotHPOs: NR
CaseNotHPOFreeText: Stenosis
CasePreviousTesting: See NGS results in Supplementary Table 1
Genotyping Method: Genetic screening (NGS results in Supplementary Table 1) with confirmation by Sanger
FunctionalAnalysis: NR
Variant: c.1858C>T (p.Arg620Cys)
ClinVar: 67694
CAID: CA015449
gnomAD: v4.1.0 GrpMax FAF: 0.00002033 (European non-Finnish)
AdditionalInfo: The patient also has APOA5:c.990_993delAACA (p. Asp332Valfs*5) (P/LP in ClinVar with 2 stars)
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- Mar 2021
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www.cell.com www.cell.com
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Partial or complete loss-of-function variants in SCN5A are the most common genetic cause of the arrhythmia disorder Brugada syndrome (BrS1).
Gene: SCN5A
Disease: Brugada syndrome
MONDO: MONDO:0011001
InheritancePattern: Autosomal dominant
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