p.73 抽出テキスト

Table 22 Clinical features and management of syndromic and metabolic cardiomyopathies

Clinical red flags Diagnosis Specific cause Multidisciplinary

team Management

Abnormal facial features Cryptorchidism Pulmonary valve stenosis Congenital heart disease Extreme right-axis deviation at ECG Lymphangectasis Bleeding diathesis Café au lait spots Lentigines Growth retardation Sensorineural deafness NGS panel testing for RASopathy Noonan syndrome

Costello syndrome Cardiofaciocutaneous syndrome Noonan syndrome with multiple lentigines Cardiologist

Geneticist Endocrinologist Paediatrician Dermatologist Radiologist Beta-blockers/CCBs

Selective management of RVOTO/ pulmonary valvuloplasty SCD risk stratification

Short PR interval End-stage, hypokynetic HCM AV block (Kearns–Sayre syndrome) Lactic acidosis Sensorineural deafness Neutropenia (Barth syndrome) Diabetes Stroke-like lesions at brain MRI NGS panel for mtDNA and

nuclear DNA Skeletal muscle biopsy/ endomyocardial biopsy MELAS syndrome

MERRF syndrome Leigh syndrome Other mitochondrial disease Beta-oxidation disorders Cardiologist

Neurologist Endocrinologist Paediatrician Metabolism expert Radiologist Avoiding drugs or situational

stressors Beta-oxidation disorders: nutritional management, avoidance of fasting, aggressive treatment during increased metabolic stress Carnitine supplementation (selected cases)

Hepatomegaly Increased aminotransferase enzymes Delayed motor milestones Hypotonia Short PR interval ECG criteria for extreme LVH Screening: GAA activity in DBS or leucocytes/Glc4 dosing

Diagnostic confirmation: acid alpha-glucosidase assay performed on skin fibroblasts (preferred method) or muscle biopsy Type II glycogen storage disease (Pompe disease) Cardiologist General Paediatrician/

neonatologist Gastroenterologist Neuromuscular disease specialist Enzyme replacement therapy

Short PR interval Massive LVH Skeletal myopathy Increased serum CK enzyme Intellectual disability X-linked inheritance NGS or target testing for LAMP-2

variants Danon disease Cardiologist

Neuromuscular disease specialist Pneumologist Advanced heart failure specialist No treatment

Short PR interval Early-onset atrial fibrillation AV block Increased serum CK enzyme Autosomal dominant inheritance pattern NGS or target testing for PRKAG2 PRKAG2 syndrome Cardiologist

Neuromuscular disease expert No treatment

Continued

ESC Guidelines                                                                                                                                                                                          3575

Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026