Case1:eight-year-old female

DiseaseAssertion: Restrictive cardiomyopathy (RCM)

FamilyInfo: The patient's parents denied any positive family history of cardiac attacks, cardiovascular issues, hypertension, or coronary artery diseases. There was also no reported history of diabetes or obesity among family members. No inherited diseases, including cardiomyopathies or metabolic disorders, were identified in the family history

ParentalTesting: NR

CasePresentingHPOs:HP:0012378, HP:0001695, HP:0100539, HP:0031352, HP:0034030

CaseHPOFreeText:bilateral pedal edema, shortness of breath after engaging in physical activity, typically lasting for 15 min, enlarged bilateral atrium, segmental thickening of the interventricular septum, segmentally diffuse reduction and lack of coordination in ventricular wall pulse amplitude, mild mitral regurgitation, and diminished left ventricular systolic and diastolic function identified by increased parameters of early diastolic velocity (E wave) and low late filling velocity (A wave) (Figure 1A) abnormal bilateral atrial signals, premature atrial beats, junctional ectopic beats, first-degree atrioventricular block, complete right bundle branch block, prolonged QT interval, and abnormal Q wave (Figure 1B).

CaseNotHPOs: NR

CaseNotHPOFreeText: NR

CasePreviousTesting: echocardiography, genetic screening, imaging assessments, blood gas analysis, blood cell counts, carbon dioxide retention

Genotyping Method: whole-exome sequencing (WES)

FunctionalAnalysis: computational analysis

Variant:TNNI3 c.509G>A p.R170Q

ClinVar:165516

gnomAD: not found