Case1: male fetus

DiseaseAssertion: LVNC

FamilyInfo: first two pregnancies had resulted in miscarriages due to cervical insufficiency. The third pregnancy (after cerclage) resulted in a healthy nondysmorphic female with mild Ebstein anomaly of the tricuspid valve. The father was reported to have a history of a cardiac murmur and possible “hole in the heart.” Fetal echocardiography revealed that our patient's second child (fourth pregnancy) also had mild Ebstein anomaly. Father also has Ebstein anomaly, with significant apical displacement of the tricuspid valve, moderate tricuspid valve insufficiency, and right heart enlargement

CasePresentingHPOs: HP:0010316, HP:0031195

"Ebstein anomaly of the tricuspid valve, Apical hypertrabeculation of the left ventricle"

CaseHPOFreeText: mild apical displacement of the tricuspid valve, presence of multiple trabeculations on parasternal short‐axis and apical 4‐chamber views, with deep intertrabecular recesses

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: echocardiogram, Peripheral blood samples use to test 46 genes initially (including MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1)

GenotypingMethod: Testing was performed by oligonucleotide‐based target capture, followed by next generation sequencing. Sanger sequencing was used to provide data in areas with insufficient coverage and confirm clinically significant and novel variants. Heterozygous.

VariantMYH7: NM_000257.4:c.3658_3660del

ClinVar: 42968

CAID: CA013921

gnomAD: not reported

**VariantTTN: c.25722_25724delAGA (p.Glu8576del)

Allele registry currently not working