TABLE 1.
Tropomyosin mutants used in this study
The abbreviations used are as follows: NCCM, noncompaction cardiomyopathy; SCD, sudden cardiac death; HF, heart failure.
| Mutant | Period (exon) | Heptad repeat position | Phenotype | No. of families affected | Clinical manifestation | Ref. |
|---|---|---|---|---|---|---|
| E62Q | 2 (2) | f | HCM | 1 | Reported as cases of HCM in the age group 15–69 years, early onset leading to SCD at 15 years, variable manifestation upon late onset | 25 |
| D84N | 3 (3) | g | DCM | 1 | Age of diagnosis ranges from 5 months to 52 years; symptoms include DCM and NCCM; SCD reported as early as 5 years | 69 |
| I172T | 5 (5) | d | HCM | 1 | Diagnosed as HCM at 36 years of age with family history of SCD at 53 years | 26 |
| E181K | 5 (5) | f | NA | 0 | Predicted to be HCM from structural and in silico analysis | 32 |
| L185R | 5 (5) | c | HCM | 2 | Two cases of SCD reported at 6 and 8 years of age in a family with a history of HCM | 26 |
| S215L | 6 (7) | e | HCM | 2 | Reported in children under 15 years with HCM; independently reported as a compound heterozygous mutation with HCM-like symptoms in South Indian population | 29, 70 |
| D230N | 6 (7) | f | DCM | 2 | Presents with DCM; ranging from HF and SCD upon early onset to asymptomatic left ventricular dysfunction in cases of late onset | 30 |
| M281T | 7 (9) | a | HCM | 3 | Reported as cases of familial HCM with onset late into adulthood | 26 |