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7.1.1.5 Nuclear imaging The major clinical contribution of nuclear imaging in HCM is the detection of TTR-related cardiac amyloidosis (see Section 7.7). Recommendations on the utility of bone scintigraphy and cardiac CT are described in Section 6.7.4. 7.1.2 Genetic testing and family screening In about half of cases, HCM is inherited as a Mendelian genetic trait. In such cases, the inheritance is primarily autosomal dominant, i.e. with a 50% risk of transmission to offspring.608 Apparently sporadic cases can have a monogenic cause, either because of incomplete penetrance of a Table 18 Echocardiographic features that suggest specific aetiologies in hypertrophic cardiomyopathy Finding Specific diseases to be considered Increased interatrial septum thickness Amyloidosis Increased AV valve thickness Amyloidosis; Anderson–Fabry disease Increased RV free wall thickness Amyloidosis, myocarditis, Anderson–Fabry disease, Noonan syndrome, and related disorders Mild-to-moderate pericardial effusion Amyloidosis, myocarditis/myopericarditis Ground-glass appearance of ventricular myocardium on 2D echocardiography Amyloidosis Concentric LVH Glycogen storage disease, Anderson–Fabry disease, PRKAG2 variants, Friedreich ataxia Extreme concentric LVH (wall thickness ≥30 mm) Danon disease, Pompe disease Global LV hypokinesia (with or without LV dilatation) Mitochondrial disease, TTR-related amyloidosis, PRKAG2 variants, Danon disease, myocarditis, advanced sarcomeric HCM, Anderson–Fabry disease, Friedreich ataxia RVOTO Noonan syndrome and associated disorders Apical sparing pattern on longitudinal strain imaging Amyloidosis © ESC 2023 2D, two-dimensional; AV, atrioventricular; HCM, hypertrophic cardiomyopathy; LV, left ventricular; LVH, left ventricular hypertrophy; PRKAG2, protein kinase AMP-activated non-catalytic subunit gamma 2; RV, right ventricular; RVOTO, right ventricular outflow tract obstruction; TTR, transthyretin. Modified from Rapezzi et al.62 N N 2D and Doppler echocardiography at rest, Valsalva manoeuvre, and standing Maximum provoked peak LVOTO ≥50 mmHg Maximum provoked peak LVOTO ≥50 mmHg Symptoms Exercise stress echocardiogram (Class I) Repeat echocardiogram at 1 year see LVOTO management Medical therapy Y Y Asymptomatica Symptomatic Figure 12 Protocol for the assessment and treatment of left ventricular outflow tract obstruction. 2D, two-dimensional; LVOTO, left ventricular outflow tract obstruction. aExercise echocardiography may be considered in individual patients when the presence of an left ventricular outflow tract gradient is relevant to lifestyle advice and decisions on medical treatment. ESC Guidelines 3551 Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026