Case2: A 49 year old woman

DiseaseAssertion: Carried a novel MYBPC3 T494I mutation

FamilyInfo: Both parents were older than 80 years, had no cardiovascular symptoms and declined participation in the study

ParentalTesting:NR

CasePresentingHPOs: HP:0034307, HP:0012666, HP:6000091

CaseHPOFreeText: Had onset of symptoms a few days after giving birth to her first child. She had a short, aggressive disease period, which resulted in HTX within 3 months of onset. Age 35 at onset. Has left ventricular end-diastolic diameter (in mm and indexed by body surface area (cm/m2)) 62 mm and 3.2 cm/m2. A left ventricular ejection fraction of 20%. An ECG at normal. New York Heart Association (NYHA) as 4, Clinical status as heart transplantation (HTX), CAG as normal. HTX, 36 years, postpartum.

CaseNotHPOs:HP:0011675

CaseNotHPOFreeText:No Arrhythmia.

CasePreviousTesting:NR

Genotyping Method:genetically screened, also using GenBank with PCR by amplifying the coding region.

FunctionalAnalysis:NR

Variant:NM_000256.3:c.1481C>T

ClinVar:NR

CAID:CA380325267

gnomAD:NR

AdditionalInfo:This index case carried a novel MYBPC3 T494I mutation, which replaces a conserved hydrophilic side chain with a branched neutral side chain in domain C3 of cardiac myosin-binding protein C (cMyBPC); such an alteration may interfere with the secondary structure of the C3 domain. The missense mutations G490R, R495Q and R502W, all located in the proximity of the 494 residue, have all been described as associated with HCM.