Case4: 47 year old male

DiseaseAssertion: Carried the MYBPC3 R326Q mutation

FamilyInfo:His father had onset of symptoms at 77 years of age and is stable on medication. Two asymptomatic young children (M21, III:1 and :2) had no signs of hypertrophy or dilatation on echocardiography and normal ECG.

ParentalTesting: NR

CasePresentingHPOs: HP:0011713, HP:0034307, HP:0012665, HP:0001635

CaseHPOFreeText: Had onset of symptoms at 42 years, LBBB on ECG and required cardiac resynchronization therapy. Has left ventricular end diastolic diameter (in mm and indexed by body surface area (cm/m2) of 81 mm and 3.6 cm/m2. A left ventricular ejection fraction as 20%. ECG as left bundle branch block. Clinical status as DCM/ congestive heart failure. CAG as normal. As well with cardiac resynchronization therapy.

CaseNotHPOs: HP:0011675

CaseNotHPOFreeText: No arrhythmia

CasePreviousTesting:NR

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

FunctionalAnalysis: It results in the replacement of a conserved charged arginine with neutral glutamine at residue 326 in the phosphorylatable MyBPC motif of cMyBPC. This charge change is likely to cause functional impairment.

Variant:NM_000256.3:c.977G>A

ClinVar:42813

CAID:CA016212

gnomAD: gnomAD v2: 11:47367871 C / T gnomAD v3: 11:47346320 C / T gnomAD v4: chr11-47346320-C-T

AdditionalInfo:NR

Case8: 56 year old male

DiseaseAssertion: A double heterozygous for the known MYBPC3 R326Q mutation.

FamilyInfo: His father died due to IDC in his fourth decade, whereas his brother developed IDC. DNA was not available from either of these individuals.

ParentalTesting:NR

CasePresentingHPOs:HP:0005110, HP:0034307,HP:0012666, HP:0011675, HP:0005110, HP:0100651

CaseHPOFreeText: He also developed atrial fibrillation, well regulated on medication. Had onset conditions at age 36. He had left ventricular end diastolic diameter (in mm and indexed by body surface area (cm/m2)); as a value of 65mm and 3.2 cm/m2. A LVEF, left ventricular ejection fraction as 15%. Arrhythmia level as atrial fibrillation. Clinical status as heart transplantation. He also has type 1 diabetes mellitus

CaseNotHPOs:NR

CaseNotHPOFreeText:NR

CasePreviousTesting:NR

Genotyping Method:NR

FunctionalAnalysis:NR

Variant:NM_000256.3:c.977G>A

ClinVar:42813

CAID:CA016212

gnomAD:gnomAD v2: 11:47367871 C / T gnomAD v3: 11:47346320 C / T gnomAD v4: chr11-47346320-C-T

AdditionalInfo:NR