Case1: 11 year old female

DiseaseAssertion: hypertrophic cardiomyopathy, restrictive cardiomyopathy

FamilyInfo: twin sister carrier identical mutation, both sisters expired, no family history of cardiomyopathy

ParentalTesting: sanger sequencing

CasePresentingHPOs:HP:0001629, HP:0001640, HP:0034314,HP:0002098, HP:0001723

CaseHPOFreeText:bilateral atrial dilation with mid ventricular hypertrophy, accelerated cardiac sound, liver palpable 2cm below costal margin, cold extremities, cardiac condition was New York Heart Association class (NYHA) III.

CaseNotHPOs: NR

CaseNotHPOFreeText: no gallop rhythm, no murmur, no blood test abnormalities, no metabolic disorders

CasePreviousTesting: cardiac catheterization, cardiac magnetic resonance, echocardiography, Chest Xray, electrocardiography,

Genotyping Method: sanger sequencing

FunctionalAnalysis: NR

Variant: TNNI3 c.574 C>T p.Arg192Cys

ClinVar: 165510

CAID: CA021951

gnomAD:NR

Case 2: 15 year old female

DiseaseAssertion: restrictive cardiomyopathy, hypertrophic cardiomyopathy

FamilyInfo: twin sister carrier identical mutation, both sisters expired, no family history of cardiomyopathy

ParentalTesting: Sanger Sequencing

CasePresentingHPOs:HP:0002875, HP:0001723

CaseHPOFreeText: Abnormal ECG, LV hypertrophy, enlargement of both atria, high LVEF levels, accelerated cardiac sound, liver was palpable 3 cm, extremities were warm, and cardiac condition was NYHA II.

CaseNotHPOs:NR

CaseNotHPOFreeText: no gallop rhythm, no murmur, no blood test abnormalities, no metabolic disorders

CasePreviousTesting: cardiac catheterization, cardiac auscultation, myocardial disarray with myocyte hypertrophy

Genotyping Method: Sanger sequencing

FunctionalAnalysis: NR

Variant: TNNI3 c.574 C>T p.Arg192Cys

ClinVar: 165510

CAID: CA021951

gnomAD:NR

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