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7.1.3.4 Left ventricular non-compaction LVNC comprises a heterogeneous group of diseases. The diagnosis is challenging, and various diagnostic criteria have been proposed. The yield of genetic tests in index patients is low.755 The morphological phenotype of non-compaction based on imaging parameters may also appear in a healthy population.756 A meta-analysis including 2501 LVNC patients revealed a risk of cardiovascular mortality similar to that of DCM patients, with no relation to the extent of trabeculation.757 CMR-based detection of focal fibrosis using LGE in LVNC with preserved ejection was associated with serious cardiac events (aborted death, ICD therapy, heart transplantation [HTX]/LVAD) in another meta-analysis including 574 patients (OR 6.1; CI 2.1–17.5; P , 0.001).758 A combination of CMR criteria with systematic genotyping may overcome current uncertainties regarding risk stratification.759 7.1.3.5 Restrictive cardiomyopathy The phenotype of restrictive cardiomyopathy (RCM) is rare and can be the consequence of different aetiologies, including infiltrative disorders (e.g. amyloidosis) and storage disease (e.g. Andersen–Fabry disease), the identification of which is crucial for guiding therapy. Heart failure is one of the leading symptoms in primary and secondary RCM.760 In Fabry disease the majority of the reported cardiovascular deaths have been categorized as SCD in a recent systematic review of 13 studies including 4185 patients.761 Higher age, male gender, LVH, LGE, and NSVT have been identified as potential risk factors associated with SCD events. However, SCD rates were reported in only 11 of the studies, including 623 patients. The retrospective, observational nature of most of these small, single-centre studies and the low absolute number of cardiovascular deaths (36/623) and SCD (30/623) do not currently allow guidance for primary prevention ICD implantation.761 Amyloidosis can be caused by different misfolded precursor proteins leading to deposits in tissue and organs. Cardiac amyloidosis is mainly related to light-chain amyloid or transthyretin amyloid. The latter can be subdivided into wild-type, also called senile amyloid, more often complicated by AV conduction delay and atrial arrhythmias, and amyloid due to pathogenic mutations in the TTR gene. Disease manifestation depends on the mutation. Despite advances in the treatment of amyloid light-chain amyloidosis, outcome is still poor in patients with manifest cardiac involvement.762 Causes of death are progressive heart failure, autonomic dysfunction, and electromechanical dissociation.762,763 The benefit of primary prevention ICD implantation in patients with cardiac amyloidosis is uncertain. Currently, an ICD should be considered in patients with haemodynamically not-tolerated VT after careful discussion of the competing risks of non-arrhythmic death and non-cardiac death. 7.1.3.6 Neuromuscular disorders An algorithm for risk stratification, SCD prevention, and treatment of VAs in myotonic dystrophy is presented in Figure 23. Arrhythmias are common and often the first manifestation of neuromuscular disorders.764 Myotonic dystrophy is the most common muscular dystrophy in the adult population (prevalence 1 in 8000). Myotonic dystrophy is the consequence of trinucleotide repeat expansion in the end of DMPK gene, which results in mis-splicing of SCN5A and cardiac conduction system delays and arrhythmia. Duchenne dystrophy also has a high incidence (1 in 3500 male births). As most patients die before the age of 20, it is rarely seen in adulthood. Other neuromuscular disorders, such as Becker (1 in 100000 male births) and facioscapulohumeral (1 in 100000) dystrophies, are less common. Most of these disorders are associated with conduction and rhythm Catheter ablation in specialized centres may be considered in selected patients with HCM and recurrent, symptomatic SMVT or ICD shocks for SMVT, in whom AAD are ineffective, contraindicated, or not tolerated.753,754 IIb C Management of relatives of a patient with HCM In a first-degree relative of a patient with HCM, ECG and echocardiogram are recommended. I C © ESC 2022 AAD, anti-arrhythmic drug; CMR, cardiac magnetic resonance; ECG, electrocardiogram; HCM, hypertrophic cardiomyopathy; ICD, implantable cardioverter defibrillator; LGE, late gadolinium enhancement; LV, left ventricle; LVEF, left ventricular ejection fraction; SCD, sudden cardiac death; SD, sudden death; SMVT, sustained monomorphic ventricular tachycardia; VA, ventricular arrhythmia; VF, ventricular fibrillation; VT, ventricular tachycardia. aClass of recommendation. bLevel of evidence. cBased on the HCM Risk-SCD: https://doc2do.com/hcm/webHCM.html dDefined as a failure to increase systolic pressure by at least 20 mmHg from rest to peak exercise, or a fall of .20 mmHg from peak pressure. eBased on the HCM kid risk score: https://hcmriskkids.org Recommendation Table 31 — Recommendations for implantable cardioverter defibrillator implantation in left ventricular non-compaction Recommendations Classa Levelb In patients with a LVNC cardiomyopathy phenotype based on CMR or echocardiography, implantation of an ICD for primary prevention of SCD should be considered to follow DCM/ HNDCM recommendations. IIa C © ESC 2022 CMR, cardiac magnetic resonance; DCM, dilated cardiomyopathy; HNDCM, hypokinetic non-dilated cardiomyopathy; ICD, implantable cardioverter defibrillator; LVNC, left ventricular non-compaction; SCD, sudden cardiac death. aClass of recommendation. bLevel of evidence. Recommendation Table 32 — Recommendations for implantable cardioverter defibrillator implantation in patients with cardiac amyloidosis Recommendations Classa Levelb An ICD should be considered in patients with light-chain amyloidosis or transthyretin-associated cardiac amyloidosis and haemodynamically not-tolerated VT. IIa C © ESC 2022 ICD, implantable cardioverter defibrillator; VT, ventricular tachycardia. aClass of recommendation. bLevel of evidence. Downloaded from academic.oup.com/eurheartj/article/43/40/3997/6675633 by guest on 07 October 2026