Case1: 22-day-old newborn boy

**DiseaseAssertion ** neonatal dilated cardiomyopathy

FamilyInfo: no mutation in the parents

ParentalTesting: whole-exome sequencing

CasePresentingHPOs: HP:0002094, HP:0002789, HP:0010741, HP:0001644, HP:0001640, HP:0002202, HP:0000961, HP:0001259

CaseHPOFreeText: weaning difficulties during hospitalization with intractable low EF heart insufficiency, refractory low ejection fraction, cardiac insufficiency, mild pulmonary hypertension, and mitral and tricuspid insufficiency with mild valve regurgitation, difficulty with ventilator withdrawal, irregular fever, pale face, poor feeding after birth

CaseNotHPOs: NR

CaseNotHPOFreeText: no abnormal symptoms or signs from birth to the 10th day

CasePreviousTesting: Whole-exome sequencing (Figure A), Chest CT, Electrocardiography, Doppler echocardiography (Figures 1A,B), arterial blood gas, routine blood examination, liver function, renal function, serum electrolytes, bacterial endotoxin, G-test, blood culture, sputum culture, and stool tests

Genotyping Method: whole-exome sequencing (WES)

FunctionalAnalysis: NR

Variant: homozygous mutation in 554 based on the 7th exon of the TNNI3 gene (chromosomal position CHR 19:55665403, reference genome HG19): c.544G>A(p.Glu182Lys) (Figure 2A)

ClinVar: not found

CAID: CA021848

gnomAD: not reported