Case#:7-year-old boy

DiseaseAssertion: restrictive cardiomyopathy

FamilyInfo: his parents were in generally good health and other family members denied a history of syncope, sudden death or cardiomyopathy

ParentalTesting: sanger sequencing

CasePresentingHPOs:HP:0007185, HP:0001695, HP:0005943, HP:0002516, HP:0001663

CaseHPOFreeText:electrocardiogram (ECG) revealed Ptf-V 1 < –0.04 mm⋅s and biphasic P waves, indicating left atrial enlargement and the chest X-ray revealed an enlarged heart shadow. The echocardiogram showed biatrial enlargement, especially in the left atrium (LA: 32 mm, RA: 30 mm), decreased diastolic function (E/A = 2.6; E Peak deceleration time 130 ms; Constant volume diastolic time 49 ms), moderate mitral valve regurgitation and left ventricular ejection fraction of 51.8%.

CaseNotHPOs:HP:0000969

CaseNotHPOFreeText:Except for bilateral enlargement, cardiac magnetic resonance (CMR) indicated no abnormalities

CasePreviousTesting: brain MRI, video electrocephalogram, electrocardiogram

Genotyping Method: sanger sequencing

FunctionalAnalysis:

Variant: TNNI3 c.611(exon8)G>A,p.R204H

ClinVar:177679

CAID:CA022060

gnomAD:chr19-55151856-C-T