Case 7: 47 year old male

DiseaseAssertion: novel MYH7 R1832C in the index case

FamilyInfo:His father died at the age of 47 years due to IDC, whereas a sibling of the index case died suddenly within her first year. It was not possible to obtain DNA from the deceased relatives.

ParentalTesting:NR

CasePresentingHPOs:HP:0012828,HP:0012835, HP:0034307, HP:0012666

CaseHPOFreeText: He had an early onset of symptoms, in his third decade as being the age of 33, with severe dilatation of his left ventricle and depressed LVEF, and required HTX 3 years after the onset of symptoms. A left ventricular end diastolic diameter (in mm and indexed by body surface area (cm/m2)); value of 86mm and 3.2cm/m2. Has a left ventricular ejection fraction of 20%. His clinical status is heart transplantation.

CaseNotHPOs:NR

CaseNotHPOFreeText:NR

CasePreviousTesting:NR

Genotyping Method:NR

FunctionalAnalysis:NR

Variant:NM_000257.4:c.5494C>T

ClinVar:161322

CAID:CA016134

gnomAD: gnomAD v2: 14:23884269 G / A gnomAD v3: 14:23415060 G / A gnomAD v4: chr14-23415060-G-A

AdditionalInfo: This mutation is located in the rod portion of MYH7 and replaces a basic arginine residue with a reactive neutral cysteine residue in the g-position of the heptad repeat in the α-helical myosin rod, and thus may destabilize the salt bridges required for myosin–myosin dimerization.