Table 4.
Clinical features of affected patients with PDLIM5 mutations
| Individual | Sex | Origin | Age at diagnosis | Presenting symptoms | Outcome | Genotype |
|---|---|---|---|---|---|---|
| A‐II:3 | M | Dutch | 67 | Acute heart failure | Normalized LVEF | Heterozygous TTN: p.Thr32477Asnfs* + heterozygous PDLIM5: p.Leu64Glyfs*15 |
| A‐III:1 | M | Dutch | 26 | Severe biventricular DCM | Normalized LVEF | Heterozygous TTN: p.Thr32477Asnfs* + heterozygous PDLIM5: p.Leu64Glyfs*15 |
| A‐III:2 | F | Dutch | 48 | LV dilatation at echocardiography | Stable cardiac function | Heterozygous TTN: p.Thr32477Asnfs* + heterozygous PDLIM5: p.Leu64Glyfs*15 |
| A‐III:4 | M | Dutch | 26 | Severe DCM with NSVTs | LVEF 30%, multiple appropriate ICD shocks | NA |
| B‐III:1 | M | Native American | At birth | Patent ductus arteriosus, ventricular and atrial septal defect, and cardiac dilation | Normalized cardiac dimensions | Homozygous PDLIM5 deletion of 10.16 kb (Hg19: chr4:95,376,436–chr4:95,386,599) |
Abbreviations: DCM, dilated cardiomyopathy; F, female; ICD, implantable cardiac defibrillator; LV, left ventricular; LVEF, left ventricular ejection fraction; M, male; NSVT, nonsustained ventricular tachycardia.