TABLE 1.
Summary of published cases with Nexilin dilated cardiomyopathy
Number | Author | Sex | Age at onset | DNA sequence change | Amino acid change | Clinical outcome | Remark |
---|---|---|---|---|---|---|---|
Homozygous | |||||||
1 | Patient 2 | Female | Fetal | 1174C > T | R392* | Died after 2 weeks | |
2 | Al‐Hassnan et al. | ? | 1 month | 1582‐1584del | GAA528del | Severe DCM | Sibling of patient 3 |
3 | ? | ? | 1582‐1584del | GAA528del | Severe DCM | Sibling of patient 2 | |
Heterozygous | |||||||
4 | Kean et al. | Male | 2 months | 1723G > T | E575X | Severe DCM, improved later, in good clinical condition at 21 years | Twin of patient 5, additional SCN5A mutation |
5 | Male | 2 months | 1723G > T | E575X | Mildly reduced LV systolic function at 21 years | Twin of patient 4, additional SCN5A mutation | |
6 | Patient 1 | Male | 3 months | 1949_1951del | G650del | Severe DCM, improved later, in good clinical condition at 11 years | |
7 | Klauke et al. | Male | 5 years | 1955A > G | Y652C | Severe DCM, ventricular assist device implantation at 22 years | |
8 | Hassel et al. | Female | 35 years | 1948‐1950del | G650del | DCM, NYHA I | |
9 | Female | 40 years | 1955A > G | Y652C | Severe DCM, NYHA II | ||
10 | Female | 49 years | 1948‐1950del | G650del | Severe DCM, NYHA III | ||
11 | Male | 51 years | 1831C > A | P611T | Severe DCM, NYHA III | ||
12 | Male | 51 years | 1948‐1950del | G650del | Severe DCM, NYHA II | ||
13 | Male | 52 years | 1948‐1950del | G650del | Severe DCM, NYHA II | ||
14 | Male | 56 years | 1948‐1950del | G650del | Severe DCM, NYHA II | ||
15 | Female | 58 years | 1955A > G | Y652C | Severe DCM, received heart transplantation | ||
16 | Female | 65 years | 1948‐1950del | G650del | Severe DCM, NYHA II | ||
17 | Haas et al. | Male | ? | 1174C > T | R392* | ? |
Abbreviation: DCM, dilated cardiomyopathy.