Case#: 2 year old, male, from Yunnan Province, China

DiseaseAssertion: Restrictive cardiomyopathy

FamilyInfo:no family history of sudden cardiac death or cardiomyopathy

ParentalTesting: Sanger Sequencing

CasePresentingHPOs:HP:0034031, HP:0001635, HP:0002240,

CaseHPOFreeText:a little puffiness of the eyelids, jugular veins were full but not inflamed, atypical heart beat, edema of the lower limbs, bi-atrial enlargement, left ventricular ejection fraction of 64.6%, normal septal and ventricular wall thickness, trace pericardial effusion atrial and ventricular septum had uneven signals in the localized areas on perfusion imaging under resting state, and gadolinium-delayed enhancement showed a suspicious stripe enhancement of the septum, (Figures 1-3)

CaseNotHPOs:OMIM:145500, HP:0000819, HP:0001698,

CaseNotHPOFreeText: no history of connective tissue disease or radiation therapy, no endocardial thickening

CasePreviousTesting: electrocardiogram, cardiac magnetic resonance,

Genotyping Method: Whole-exome sequencing, sanger sequencing

FunctionalAnalysis: NR

Variant:heterozygous (c.574C > T, p.Arg192Cys) TNNI3

ClinVar: 165510

gnomAD: not found