ABC | Volume 113, Nº2, August 2019

Review Article Lamounier Júnior et al. Genetic and dilated cardiomyopathy Arq Bras Cardiol. 2019; 113(2):274-281 Table 1 – Main genes associated with dilated cardiomyopathy Gene Protein Estimated contribution Association with other cardiomyopathies Other phenotypes Inheritance Level of evidence* Sarcomere TTN Titin 18-25% LVNC Myopathies AD 1 TNNT2 Troponin T type 2 2-3% HCM, LVNC - AD 1 TNNI3 Troponin I3, cardiac type 1-2% HCM, RCM - AR 1 TPM1 Tropomyosin 1 1-2% HCM, LVNC Congenital heart disease AD 1 MYH7 Miosina-7 (beta-myosin heavy chain) 3-5% HCM, LVNC Myopathies AD 1 MYBPC3 Myosin-binding protein C 2% HCM, LVNC - AD 1 BAG3 Bcl-2-associated athanogene 3 2% - Myofibrillar myopathy AD 1 ACTC1 Actin alpha cardiac muscle 1 <1% HCM, LVNC - AD 1 Cytoskeleton ACTN2 Actin alpha cardiac muscle 2 < 1% HCM Congenital heart disease AD 2 FLNC Filamin C 2.2% HCM, RCM - 1 LDB3 LIM domain binding 3 <1% NA Myofibrillar myopathy AD 2 ANKRD1 Ankyrin repeat domain 1 < 1% HCM Congenital heart disease AD 3 VCL Vinculin 1% NA - AD 3 JUP Junction plakoglobin 1 % ACM Naxos disease AD/AR 1 DMD Dystrophin 1% NA Duchenne and Becker muscular dystrophy X-linked 1 DES Desmin 1-2% HCM, RCM Myofibrillar myopathy AD 1 Cell Membrane LMNA Lamin A/C 5-10% HCM Muscle myopathies, lipodystrophies, progeria AD 1 EMD Emerin NA ACM Emery-Dreifuss muscular dystrophy X-linked 1 Ion Channels SCN5A Sodium voltage-gated channel alpha subunit 5 2-3% LVNC Brugada syndrome/LQTS AD 1 ABCC9 ATP binding cassette subfamily C member 9 < 1% - Osteochondrodysplasia AD 3 Desmosome DSC2 Desmoscollin-2 1-2% ACM Palmoplantar keratoderma AD 1 DSG2 Desmoglein 2 1-2% ACM - AD/digenic 1 DSP Desmoplakin 3% ACM Carvajal syndrome AR 1 PKP2 Plakophilin 2 <5% ACM - AD 1 Lysosome LAMP2 Lysosome-associated membrane protein 2 4% HCM Danon disease X-linked 1 Sarcoplasmic Reticulum PNL Phospholamban 1% HCM, ACM - AD 1 RYR2 Ryanodine receptor 2 NA - CPVT AD 2 RBM20 RNA binding motif protein 20 2% LVNC - AD 1 HCM: hypertrophic cardiomyopathy; RCM: restrictive cardiomyopathy; LVNC: Left ventricle non-compaction cardiomyopathy; ACM: arrhythmogenic cardiomyopathy; CPVT: catecholaminergic polymorphic ventricular tachycardia; LQTS: long QTsyndrome; NA: not available;AD: autosomal dominant;AR: autosomal recessive. *The genes were classified according to three levels. Level 1: Multiple studies, variants and families reported and cosegregation with established disease. Level 2: Single or few studies, variants and families reported and limited cosegregation observed. Level 3: Single or few studies, variants and families reported and unestablished cosegregation. 275