Table 2.
Genotype-Phenotype Correlations.*
| Gene symbol | Number of patients | Gene | Location | LVEF <50% | Met CMR criteria for LVNC | NC/C ratio | Number of affected segments | LGE | NMD |
|---|---|---|---|---|---|---|---|---|---|
| TTN† | 14 | Titin | Sarcomere | 8/14 | 10/14 | 2.9 | 8.9 | 4/14 | 0/14 |
| MYH7 | 8 | Cardiac-myosin heavy chain | Sarcomere | 4/8 | 8/8 | 3.5 | 11.0 | 4/8 | 1/8 |
| MYPN | 6 | Myopalladin | Sarcomere | 2/6 | 4/6 | 2.5 | 8.3 | 2/6 | 0/6 |
| LDB3 | 6 | ZASP/LIM domain binding 3 | Sarcomere | 2/6 | 6/6 | 2.8 | 8.7 | 3/6 | 0/6 |
| DSP | 5 | Desmoplakin | Intercellular | 1/5 | 1/5 | 2.1 | 5.8 | 0/5 | 1/5 |
| LAMA4 | 5 | Laminin, alpha 4 | Extracellular | 0/5 | 5/5 | 2.6 | 9.0 | 0/5 | 0/5 |
| MYBPC3 | 5 | Myosin-binding protein C | Sarcomere | 2/5 | 3/5 | 2.5 | 6.6 | 0/5 | 0/5 |
| MYH6 | 5 | Myosin, Heavy Chain 6 | Sarcomere | 1/5 | 3/5 | 3.0 | 8.0 | 0/5 | 0/5 |
| RBM20 | 5 | RNA-binding protein 20 | Nucleus | 2/5 | 5/5 | 3.3 | 9.4 | 0/5 | 0/5 |
| SYNE2 | 5 | Spectrin Repeat Containing, Nuclear Envelope 2 | Nuclear envelope | 2/5 | 2/5 | 2.2 | 8.6 | 1/5 | 1/5 |
| TPM1 | 5 | Alpha -Tropomyosin | Sarcomere | 3/5 | 5/5 | 3.1 | 10.2 | 1/5 | 0/5 |
| DSC2 | 4 | Desmocollin 2 | Intercellular | 4/4 | 4/4 | 2.7 | 7.5 | 0/4 | 0/4 |
| NEXN | 4 | Nexilin | Sarcomere | 0/4 | 2/4 | 2.1 | 8.3 | 0/4 | 0/4 |
| RYR2 | 4 | Ryanodine receptor 2 | Sarcoplasmic reticulum | 2/4 | 2/4 | 2.4 | 8.0 | 0/4 | 0/4 |
| DES | 3 | Desmin | Cytoskeleton | 1/3 | 3/3 | 2.9 | 8.7 | 1/3 | 0/3 |
| FLNA | 3 | Filamin A, Alpha | Cytoskeleton | 0/3 | 1/3 | 1.9 | 5.0 | 0/3 | 1/3 |
| GATA4 | 3 | GATA Binding Protein 4 | Nucleus | 0/3 | 0/3 | 2.0 | 5.3 | 0/3 | 0/3 |
| SDHA | 3 | Succinate dehydrogenase complex, subunit A, flavoprotein | Mitochondrial membrane | 1/3 | 1/3 | 2.8 | 8.7 | 1/3 | 0/3 |
| BAG3 | 3 | BCL2-Associated Athanogene 3 | Cytosol | 1/3 | 2/3 | 2.8 | 7.3 | 1/3 | 0/3 |
| ABCC6 | 2 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 | Membrane | 1/2 | 2/2 | 2.5 | 10.5 | 0/2 | 0/2 |
| ACTC1 | 2 | Cardiac actin | Sarcomere | 2/2 | 2/2 | 3.2 | 8.0 | 1/2 | 0/2 |
| DMD | 2 | Dystrophin | Cytoskeleton | 0/2 | 1/2 | 2.3 | 6.5 | 0/2 | 1/2 |
| EYA4 | 2 | EYA transcriptional coactivator and phosphatase 4 | Nucleus | 1/2 | 1/2 | 2.2 | 6.5 | 0/2 | 0/2 |
| MYOZ2 | 2 | Myozenin 2 | Sarcomere | 1/2 | 1/2 | 2.7 | 9.5 | 1/2 | 1/2 |
| SYNE1 | 2 | Spectrin repeat containing, nuclear envelope 1 | Nuclear envelope | 0/2 | 2/2 | 2.8 | 6.0 | 0/2 | 0/2 |
| TNNT2 | 2 | Cardiac troponin T | Sarcomere | 0/2 | 2/2 | 2.4 | 6.0 | 1/2 | 0/2 |
| ANG | 1 | Angiogenin, ribonuclease, RNase A family, 5 | Nucleus | 1/1 | 1/1 | 4.1 | 11.0 | 0/1 | 0/1 |
| CITED2 | 1 | Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 | Nucleus | 0/1 | 0/1 | 2.2 | 9.0 | 0/1 | 0/1 |
| CRELD1 | 1 | Cysteine-rich with EGF-like domains 1 | Membrane | 0/1 | 0/1 | 1.5 | 4.0 | 0/1 | 0/1 |
| CRYAB | 1 | Crystallin, alpha B | Cytosol | 1/1 | 1/1 | 2.4 | 9.0 | 0/1 | 0/1 |
| FKTN | 1 | Fukutin | Golgi | 1/1 | 1/1 | 4.4 | 11.0 | 0/1 | 0/1 |
| FLNC | 1 | Filamin C, gamma | Sarcomere | 1/1 | 1/1 | 2.6 | 8.0 | 0/1 | 0/1 |
| FLT1 | 1 | Fms-related tyrosine kinase 1 | Membrane | 0/1 | 1/1 | 2.7 | 11.0 | 0/1 | 1/1 |
| KCNE1 | 1 | Potassium channel, voltage gated subfamily E regulatory beta subunit 1 | Ion Channel | 0/1 | 1/1 | 3.4 | 10.0 | 0/1 | 0/1 |
| LMNA | 1 | Lamin A/C | Nucleoskeleton | 1/1 | 1/1 | 2.4 | 9.0 | 0/1 | 0/1 |
| MEF2A | 1 | Myocyte enhancer factor 2A | Nucleus | 0/1 | 0/1 | 2.1 | 7.0 | 0/1 | 0/1 |
| MTMR14 | 1 | Myotubularin related protein 14 | Cytosol | 0/1 | 1/1 | 3.6 | 12.0 | 1/1 | 0/1 |
| MYL2 | 1 | Myosin, light chain 2, regulatory, cardiac, slow | Sarcomere | 0/1 | 0/1 | 2.2 | 8.0 | 0/1 | 0/1 |
| MYLK2 | 1 | Myosin light chain kinase 2 | Sarcomere | 1/1 | 1/1 | 2.4 | 9.0 | 0/1 | 0/1 |
| PLEC | 1 | Plectin | Cytoskeleton | 0/1 | 0/1 | 2.1 | 7.0 | 0/1 | 0/1 |
| PRDM16 | 1 | PR domain containing 16 | Nucleus | 0/1 | 0/1 | 2.1 | 7.0 | 0/1 | 0/1 |
| PRKAG2 | 1 | Protein kinase, AMP-activated, gamma 2 non-catalytic subunit | Cytosol | 0/1 | 1/1 | 2.9 | 15.0 | 0/1 | 0/1 |
| PRKAR1A | 1 | Protein kinase, cAMP-dependent, regulatory, type I, alpha | Membrane | 0/1 | 1/1 | 2.8 | 8.0 | 0/1 | 0/1 |
| PSEN1 | 1 | Presenilin 1 | Nuclear membrane | 0/1 | 0/1 | 1.8 | 4.0 | 0/1 | 0/1 |
| RAF1 | 1 | Raf-1 Proto-Oncogene | Membrane | 0/1 | 0/1 | 1.7 | 4.0 | 0/1 | 0/1 |
| SCN5A | 1 | Sodium channel, voltage-gated, type V | Ion channel | 1/1 | 1/1 | 2.9 | 9.0 | 0/1 | 0/1 |
| TBX1 | 1 | T-box 1 | Nucleus | 0/1 | 1/1 | 2.5 | 8.0 | 0/1 | 0/1 |
| TBX20 | 1 | T-box 20 | Nucleus | 1/1 | 1/1 | 2.9 | 7.0 | 0/1 | 0/1 |
| TGFB3 | 1 | Transforming Growth Factor, Beta 3 | Extracellular | 1/1 | 1/1 | 3.9 | 7.0 | 1/1 | 0/1 |
| TMPO | 1 | Thymopoietin | Nuclear envelope | 1/1 | 1/1 | 3.3 | 12.0 | 0/1 | 0/1 |
| TNNC1 | 1 | Cardiac troponin C | Sarcomere | 1/1 | 1/1 | 2.8 | 13.0 | 0/1 | 0/1 |
| TNNI3 | 1 | Cardiac troponin I | Sarcomere | 1/1 | 1/1 | 2.8 | 13.0 | 1/1 | 1/1 |
| TTR | 1 | Transthyretin | Extracellular | 1/1 | 1/1 | 6.5 | 13.0 | 0/1 | 0/1 |
| VCL | 1 | Metavinculin | Cytoskeleton | 0/1 | 0/1 | 1.9 | 4.0 | 0/1 | 0/1 |
*
Multiple family members excluded,
†
Truncating mutations only.
NMD denotes neuro-muscular disease; other abbreviations as in Table 1.