Case: male, 44yo at diagnosis

DiseaseAssertion: Dilated cardiomyopathy (DCM)

CasePresentingHPOs: HP:0012664, HP:0001635, HP:0100598, HP:0001324, HP:0003388 (reduced ejection fraction, heart failure, pulmonary oedema, muscle weakness, fatigability)

HPOsFreeText: reduced LVEF (=29%), diagnosed with congenital myopathy at 36yo, LVIDD = 74mm, creatine kinase < 600 U/l, ICD implantation, waiting heart transplantation at 48yo

CaseNotHPOs:

NotHPOsFreeText: anti-tachycardia pacing or shock therapy from the ICD

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.5401G>A (p.Glu1801Lys)

ClinVar: 43069, https://www.ncbi.nlm.nih.gov/clinvar/variation/43069/

gnomAD: absent

CaseII2: 65 year old male

DiseaseAssertion: left ventricular non compaction cardiomyopathy

FamilyInfo: three family members presenting with the same MYH7 mutation

CasePresentingHPOs: HP:0012764, HP:0002515, HP:0003376, HP:0003307, HP:0003391, HP:0003547

"Orthopnea, Waddling gait, Steppage gait, Hyperlordosis, Gowers sign, Shoulder girdle muscle weakness"

CaseHPOFreeText: shortness of breath during exertion, foot drop, At lower limbs weakness and hypotrophy were severe in distal muscles and moderate in proximal muscles

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: molecular analysis for ACTA1 and ITGA7 was performed, resulted negative. Molecular analysis for DES, LMNA and MYH7 genes were carried out

GenotypingMethod: mutation screening, primers flanking the intron-exon junctions of each MYH7 exon, the 5′ and 3′ UTR

Variant: NM_000257.4:c.5401G>A

ClinVar: 43069

CAID: CA016087

gnomAD: not found