Case: Family A proband, female, Saudi Arabia, 10mo at presentation

CasePresentingHPOs: HP:0001635, HP:0001644, HP:0005185, HP:0012664, HP:0006677, HP:0011713 (heart failure, dilated cardiomyopathy, global systolic dysfunction, reduced ejection fraction, prolonged QRS complex, left bundle branch block)

HPOsFreeText: decompensated heart failure, diastolic dysfunction, left ventricle end-diastolic diameter = 120cm, left ventricular end systolic diameter = 0.4cm, left ventricular ejection fraction = 25%, left ventricular posterior wall thickness = 0.4cm, heat rate = 140bpm

CaseNotHPOs: HP:0011703 (sinus tachycardia)

FamilyInfo: consanguineous, family history of heart disease, pedigree in Fig. 1

CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, TPM1, ACTC1; 181 genes, Supplementary Data Table S1

CaseGenotypingMethod: genomic DNA extracted from peripheral blood, NGS (181 genes, Supplementary Data Table S1), variants confirmed via Sanger sequencing, parents tested

InheritancePattern: autosomal dominant

Variant: NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys)

ClinVar: 14092, https://www.ncbi.nlm.nih.gov/clinvar/variation/14092/

gnomAD: n/a

MultipleGeneVariants:

(1) LAMA4 Variant

Variant: NM_001105206.2:c.3925G>A

CAID: CA365374078, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA365374078

gnomAD: n/a