One patient, a 78-year-old man with a MYH7 mutation (c.5186_5188del) and normal cardiac assessment, had four family members (two sons, one daughter, and one nephew) who were diagnosed with the same MYH7 mutation and had ICDs implanted (two sons after cardiac arrest and the two remaining patients for primary prevention). Unfortunately, we have no available cardiac data for these patients.
Case: Male, 78yo
FamilyInfo: 2 sons, 1 daughter, and 1 nephew also diagnosed with same MYH7 variant and had ICDs implanted
CasePresentingHPOs: HP:0001324, HP:0003388 (muscle weakness, fatigability)
HPOsFreeText: congenital myopathy, normal cardiac assessment
CasePreviousTesting: ACTA1, BIN1, DNM2, MYH7, MTM1, NEB, RYR1, SCN4A, SEPN1, TPM2, TPM3
CaseGenotypingMethod: PCR amplification of exons of genes investigated and Sanger sequencing or NGS
Variant: NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del)
ClinVar: 42096, https://www.ncbi.nlm.nih.gov/clinvar/variation/42096/
gnomAD: absent