Case#: Patient 14, male, age 6 at diagnosis; age 16 at heart transplantation

CasePresentingHPOs: HP:0001639 HP:0001723 HP:0001712

CaseHPOFreeText: interventricular septal thickness of 18 mm; ejection fraction of 77%; end-diastolic volume of 42 mL/m³; heart transplant

Genotyping Method: Next-generation sequencing using a 172-gene panel with SureSelect target enrichment and Illumina HiSeq sequencing; Sanger confirmation

Variant: TNNT2 c.311G>A (p.Arg104His); missense single-nucleotide variant; heterozygous

ClinVar: 43628

CAID: CA004294