p.30 抽出テキスト

PRDM16

PRKAG2 c c PRKAG2 cardiomyopathy

PSEN1

PSEN2

PTPN11 c c Noonan syndrome

RAF1 c c Noonan syndrome

RBM20

RIT1 c c Noonan syndrome

RYR2

SCN5A

SGCD

SLC25A4 a a Mitochondrial disease

TAZ

TBX5

TBX20

TCAP

TGFB3

TJP1

TMEM43 a

TMEM70

TMPO

TNNC1

TNNI3

TNNI3K

TNNT2

TPM1

TRIM63

TTN

TTR c c Transthyretin amyloidosis

VCL © ESC 2023

ARVC, arrhythmogenic right ventricular cardiomyopathy; DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy; LVH, left ventricular hypertrophy; MD, muscular dystrophy; NDLVC, non-dilated left ventricular cardiomyopathy; RCM, restrictive cardiomyopathy. Based on ClinGen gene validation efforts;189–191a ooo: very common (>10% of tested cases); oo: common (1–10% of tested cases); o: less common (<1% of tested cases); blue circle: definitive/strong evidence; light blue circle: moderate evidence; white circle: limited, no association or refuted/dispute evidence; blank cells: not classified; grey circle: has been described (generally rare, sporadic cases), yet not classified/evaluated by ClinGen. The yield may be higher in subgroups with more specific phenotypes, e.g. the yield of testing LMNA is higher in groups with DCM and conduction disease. As NDLVC is a new phenotypic description, genes have not been formally curated for associations with this phenotype. Values shown are based on curations for related cardiomyopathies where the phenotypic spectrum is understood to include NDLVC. a indicates genes associated with syndromic presentations that can include cardiomyopathy as a feature, but where cardiomyopathy is not expected to occur as the only or presenting feature of the syndrome. bACTN2 and PLN can present a mixed phenotypic picture that may not fit into classical cardiomyopathy descriptions. cindicates genes associated with syndromic presentations that can include cardiomyopathy as a feature, and where cardiomyopathy may be the only or presenting feature of the syndrome. These are sometimes referred to as genocopies. E.g. GLA is shown as definitive for HCM, because it causes Anderson–Fabry disease which can present with LVH fulfilling diagnostic criteria for HCM. Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026