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4.1 Special populations

Several forms of cardiomyopathy previously considered secondary to external factors were recently proved to have genetic contributors, leading to the ‘second hit theory’, and a genetic aetiology should be kept in mind for family history taking and genetic testing. • Titin gene truncating variants (TTNtv) represent a prevalent genetic predisposition for alcoholic cardiomyopathy (present in 13.5% of patients vs. 2.9% in controls), as they are associated with a worse left ventricular ejection fraction (LVEF) in DCM patients who consume alcohol above recommended levels.42 • Unrecognized rare variants in cardiomyopathy-associated genes, particularly TTNtv (in 7.5% of cases), appear to be associated with an increased risk of cancer therapy-induced cardiomyopathy in children and adults.43 • Rare truncating variants in eight genes are found in 15% of women with peripartum cardiomyopathy (PPCM), and two-thirds are TTNtv (10% of patients vs. 1.4% of the reference population).44,45

Additionally, other truncating variants are identified in the DSP (1%), FLNC (1%), and BAG3 (0.2%) genes.45 • Anderson–Fabry disease is found in 0.94% of males and 0.90% of females in cardiac screening programmes for left ventricular hypertrophy (LVH) in selected populations and HCM.46 • Screening with bone scintigraphy found a high prevalence of transthyretin cardiac amyloidosis (ATTR-CA) in specific populations: 8% in severe aortic stenosis, 12% in heart failure with preserved ejection fraction (HFpEF) with LVH, 7% in LVH/HCM depending on the age, and 7% in carpal tunnel syndrome undergoing surgery (a higher prevalence if it is bilateral), mainly for the wild-type form.47,48 • Disease-causing variants in genes implicated in DCM, NDLVC, and ARVC have been identified in 8–22% of adults and children presenting with acute myocarditis.49–51 Individuals with an acute myocarditis presentation and desmosomal protein gene variants were shown to have a higher rate of myocarditis recurrence and ventricular arrhythmia compared with myocarditis patients without a desmosomal variant identified.52

5 Integrated patient management

The diagnosis, assessment, and management of patients with cardiomyopathy requires a co-ordinated, systematic, and individualized pathway that delivers optimized care by a multidisciplinary and expert team. Central to this approach is not only the individual patient, but also the family as a whole; clinical findings in relatives are essential for understanding what happens to the patient, and vice versa.53,54

5.1 Multidisciplinary cardiomyopathy

teams Healthcare professionals encounter diseases affecting the myocardium in many and varied clinical settings. Some may manifest for the first time with an acute event, including sudden unexplained death, whereas others present with progressive symptoms or are detected incidentally. Patients with cardiomyopathy can also have extracardiac manifestations (e.g. neurological, neuromuscular, ophthalmological, nephrological). Patient care requires the collaboration of different specialties.55 The composition of the multidisciplinary team will depend on the patient’s and family’s needs and the local availability of services (Figure 5). Patients with complex needs benefit from a multidisciplinary team, including relevant specialties as well as the general cardiologist, general practitioner, and the family/carer. In addition, the integration of genetics into mainstream cardiology services requires expertise from different specialties:

• Adult and paediatric cardiologists subspecialized in cardiogenetic conditions. • Cardiac imaging specialists (technicians, cardiologists, radiologists), including CMR experts. • Specialist nurses and/or genetic counsellors with skills in family history taking, drawing pedigrees, and patient/family management, particularly when the number of disciplines or the complexity implicated in a patient’s/family’s care increases. • Clinical psychologists to support patients and their relatives. • Geneticists and bioinformaticians to interpret results of genetic investigations. • Expert pathologists to interpret findings by endomyocardial biopsy (EMB) and autopsy of individuals dying from a suspected inherited cardiac condition. Specialist cardiovascular pathology centres play a crucial role in the autopsy diagnosis of cardiomyopathy when local expertise is not available.56,57

Finally, patients’ associations should be promoted and integrated into the healthcare process for rare and very rare cardiac conditions. One particularly important aspect of the multidisciplinary approach to patient care in cardiomyopathies is the need for appropriate transition of care from paediatric to adult services. Children with a genetic cardiomyopathy generally need lifelong cardiac follow-up. The transition to adulthood, including the transfer of care to adult cardiomyopathy services, can be challenging for both the child and the parents. The process of transition should include adequate and timely preparation and joint consultations, taking into consideration the child’s wishes, and level of understanding and independence at different life stages. Evidence from the field of CHD highlights the importance of specific interventions that can help the process of transition of clinical care, including adequate and timely preparation for transition and joint consultations.58,59

5.2 Co-ordination between different

levels of care A shared care approach between cardiomyopathy specialists and general adult and paediatric cardiology centres is strongly recommended. While referral cardiomyopathy units are essential for complex cases with diagnostic and/or treatment difficulties that require expertise that may only be available in high-volume centres, general adult and paediatric cardiologists have a key role to play in the diagnosis, management, and follow-up of patients with cardiomyopathy (see Section 9). A shared approach between cardiomyopathy units and between general cardiologist/paediatric cardiologist is strongly recommended. This approach can be facilitated by the implementation of telemedical contact between units and the use of remote monitoring with patients.60 The creation of local/regional/national/international networks, such as the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (https:// guardheart.ern-net.eu) allows clinicians and health professionals to share information about these pathologies, for the benefit of cardiomyopathy patients.61 Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026