Case1: 16 yo Caucasian female

DiseaseAssertion: MYH7 mediated cardiomyopathy

FamilyInfo: 6 additional family members were found to be at risk for HCM and were advised of recommendations for both

CasePresentingHPOs: HP:0001640, HP:0031319, HP:0031318, HP:0001655, HP:0002181

"Cardiomegaly, Cardiomyocyte hypertrophy, Myofiber disarray, Patent foramen ovale, Cerebral edema"

CaseHPOFreeText: moderately enlarged heart (352 g; expected range, 119–290 g), myocardium exhibited marked myocyte hypertrophy, myocyte disarray, and mild interstitial fibrosis, most notably in the anterolateral left ventricle, fatty streaks present in the thoracic aorta

CaseNotHPOs: n/a

CaseNotHPOFreeText: overt septal hypertrophy

CasePreviousTesting: n/a

GenotypingMethod: Whole Exome Next-Generation DNA Sequencing, gene-specific surveillance of all known LQTS, CPVT, BrS, HCM, DCM, and ACM genes (90 total; Table 1 and Figure 1), pathogenic mutations were confirmed in the SUD case's genomic DNA by using standard polymerase chain reaction and Sanger DNA sequencing methods

Variant: NM_000257.4:c.746G>A

ClinVar: 14088

CAID: CA016781

gnomAD: not found

Case1: deceased 16 year old female

DiseaseAssertion: HCM

FamilyInfo: 6 additional family members were found to be at risk for HCM

CasePresentingHPOs: HP:0001640, HP:0031319, HP:0002181

"Cardiomegaly, Cardiomyocyte hypertrophy, Cerebral edema

CaseHPOFreeText: Moderately enlarged heart, myocyte disarray, mild interstitial fibrosis

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

CasePreviousTesting: n/a

GenotypingMethod: Whole Exome Next-Generation DNA Sequencing

Variant: NM_000257.4:c.746G>A

ClinVar: 14088

CAID: CA016781

gnomAD: not found

Case1: 58 year old female

DiseaseAssertion: HCM

FamilyInfo: proband's daughter presents with same disease and mutation

CasePresentingHPOs: HP:0008994, HP:0000218

"Proximal muscle weakness in lower limbs, High palate

CaseHPOFreeText: symmetrical bilateral ptosis without oculomotor palsy, high arched palate but the rest of the cranial examination was normal, weakness of neck flexors, weakness in psoas and tibialis anterior, unable to walk on heels

CaseNotHPOs: n/a

CaseNotHPOFreeText: atrophy of the sternocleidomastoid muscles, hanging big toe

CasePreviousTesting: n/a

GenotypingMethod: "gene sequencing"

Variant: NM_000257.4:c.746G>A

ClinVar: 14088

CAID: CA016781

gnomAD: not found