Patient discussions
Patients should return for routine lifelong follow-up and seek medical attention for symptoms of exertional chest pain, dyspnoea, palpitations, presyncope, or syncope.
Advice should be given about exercise; whereas historical guidelines have focused predominantly on elite young athletes and provided prohibitive recommendations, it is now well recognised that exercise is beneficial to cardiovascular health, and light and moderate exercise should be encouraged in all able individuals with hypertrophic cardiomyopathy (HCM). All patients with HCM, if able, should adhere to the current minimal physical activity recommendations of 150 minutes of moderate exercise per week divided over five sessions; those who are not able should perform symptom-limited physical activity. Moderate exercise appears to be safe.[112] US and European guidelines now advise that participation in high-intensity exercise/competitive sports may be considered for some individuals after comprehensive evaluation and shared discussion with an expert.[2][65] This evaluation should consider symptomatic status, family history, functional capacity, cardiac morphology, and risk profile. A full complement of cardiac investigations is recommended, including an echocardiogram, exercise stress test, cardiovascular magnetic resonance, and prolonged ECG monitor.[112]
Screening of family members should be discussed. All first-degree relatives of patients with cardiomyopathy should be offered clinical screening with ECG and cardiac imaging (echocardiogram and/or cardiac MRI). In families in whom a disease-causing genetic variant has been identified, cascade genetic testing should be offered. Those relatives who have the familial genetic variant(s) should undergo regular clinical evaluation (every 1-3 years before the age of 60 years, and then every 3-5 years thereafter) with ECG, multimodality cardiac imaging, and additional investigations (e.g., Holter monitoring) as required. Those relatives without a phenotype who do not have the same disease-causing variant as the proband are discharged from further follow-up but advised to seek re-assessment if they develop symptoms or if new clinically relevant data emerge in the family. When no pathogenic variant is identified in the proband or genetic testing is not performed, regular, long-term clinical evaluation using a multiparametric approach that includes ECG and cardiac imaging should be considered in first-degree relatives. During cascade screening, where a first-degree relative has died, clinical evaluation of close relatives of the deceased individual (i.e., second-degree relatives of the index patient) should be considered.[1]
Clinical psychological support for patients and their families affected by inherited cardiomyopathies is an important aspect of the multi-disciplinary team’s care approach and should be available as required.[1]
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