p.20 抽出テキスト

Table 6 Examples of signs and symptoms that should raise the suspicion of specific aetiologies, grouped according to cardiomyopathy phenotype

Finding Cardiomyopathy phenotype

HCM DCM NDLVC ARVC RCM

Learning difficulties, developmental delay Mitochondrial diseases Dystrophinopathies Noonan syndrome

Noonan syndrome Mitochondrial diseases Danon disease Myotonic dystrophy

FKTN variants

Sensorineural deafness Mitochondrial diseases Epicardin variants

NSML Mitochondrial diseases

Visual impairment Mitochondrial

diseases CRYAB ATTRv or hereditary ATTR Type 2 myotonic

dystrophy

Danon disease Anderson–Fabry diseasea

Gait disturbance Friedreich ataxia Dystrophinopathies Myofibrillar

myopathies

Sarcoglycanopathies Myofibrillar myopathies

Myotonia Myotonic dystrophy Paraesthesia/sensory abnormalities/neuropathic pain Amyloidosis Amyloidosis

Anderson–Fabry disease

Carpal tunnel syndrome TTR-related

amyloidosis

Muscle weakness Mitochondrial

diseases Dystrophinopathies Laminopathies Desminopathies Glycogenoses Sarcoglycanopathies Desminopathies FHL1 variants Laminopathies

Myotonic dystrophy Desminopathies

Palpebral ptosis Mitochondrial diseases Mitochondrial diseases

Myotonic dystrophy

Lentigines NSML Angiokeratomata Anderson–Fabry

disease

Pigmentation of skin and scars Haemochromatosis Palmoplantar keratoderma and woolly hair Carvajal syndrome Naxos and Carvajal

syndromes

DSP variants DSP variants DSP variants © ESC 2023

ARVC, arrhythmogenic right ventricular cardiomyopathy; ATTR, transthyretin amyloidosis; ATTRv, hereditary transthyretin amyloidosis; DCM, dilated cardiomyopathy; DSP, desmoplakin; HCM, hypertrophic cardiomyopathy; NDLVC, non-dilated left ventricular cardiomyopathy; NSML, Noonan syndrome with multiple lentigines; RCM, restrictive cardiomyopathy; TTR, transthyretin. aCornea verticillata, characteristic of Anderson–Fabry disease, does not cause visual impairment per se. Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026