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Table 28 Hypertrophic cardiomyopathy: specific aspects of diagnosis and treatment

Definition895,896,923 Wall thickness >14 mm in one or more LV myocardial segments not sufficiently explained solely by abnormal loading conditions. LVOTO >_30 mmHg at rest or exercise, asymmetric hypertrophy, or increased LGE in a patchy mid-wall pattern in the most hypertrophied segment, further suggest the presence of HCM. It can be considered familial when two or more first- or second-degree relatives with HCM or a first-degree relative with autopsy proven HCM and sudden death at <50 years of age are detected. Differential diagnosis It might be difficult with physiological hypertrophy induced by intense athletic training, severe hypertension or aortic stenosis and with isolated septal hypertrophy. Consider a genetic HCM if the degree of LV hypertrophy is disproportionate with respect to the acquired trigger. Consider amyloidosis as a cause when increased thickness of the interatrial septum, AV valve and/or RV free wall are detected (see section 14.6). Genetic counselling and testing Indication. Must be offered to all patients with a diagnosis of HCM to identify a possible underlying genetic cause and to all first-degree adult relatives of patients with HCM and a definite disease-causing mutation, regardless of their phenotype, in order to identify genetically affected individuals at a preclinical phase. Clinical evaluation, ECG and echocardiography, must be performed in first-degree relatives who have the same definite disease-causing mutation as the index patient. When no definite genetic mutation is identified in the index patient or genetic testing is not performed, clinical evaluation with ECG and echocardiography should be considered in first-degree adult relatives and repeated every 25 years or less if non-diagnostic abnormalities are present. Minimal set of genesa (sarcomeric gene mutation in up to 60% of cases): TTN, LMNA, MHC, TNNT, Troponin-C, MYPC, RMB20, PLN, Sodium channel alpha unit, BAG3, Actin Alpha Cardiac Muscle, Nexilin, Tropomyosin-1, Vinculin.898,924926 The use of additional sequencing for the analysis of very large panel of genes may be considered if there is a clear familial history or structural phenotype, by preference combined with family segregation. Specific conditions. Muscular weakness: consider mitochondrial X-linked mutations, glycogen storage disorders, FHLI mutations, Friedreich’s ataxia. Syndromic conditions (cognitive, visual impairment, drooping eyelid): consider mitochondrial X-linked mutations, Noonan syndrome, Danon disease. Cafe ́ au lait spots (lentigines): consider Leopard/Noonan syndrome Endomyocardial biopsy Indication. It may be considered when the baseline clinical assessment suggests cardiac inflammation or storage disease which cannot be diagnosed by other means896 (see also Section 14.6). Therapeutic options895,896,923 With LVOTO Avoid hypovolaemia (dehydration), arterial and venous dilators (nitrates and phosphodiesterase type 5 inhibitors), and digoxin. Use non-vasodilating beta-blockers or use verapamil if beta-blockers non-tolerated or ineffective. Low-dose loop or thiazide diuretics must be used with caution to improve dyspnoea associated with LVOTO, but avoiding hypovolaemia. Invasive treatment (septal reduction therapy by alcohol ablation or myomectomy), in experienced centres, may be considered in those patients with a resting or maximum provoked LVOT >_50 mmHg and/or who remain symptomatic (NYHA class III or IV, syncope) despite OMT. Novel drugs or devices may be considered once available.909,927 Symptomatic without LVOTO Cautious use of low-dose loop or thiazide diuretics avoiding hypovolaemia. Verapamil/diltiazem if LVEF >50% and beta-blockers are not tolerated or ineffective. Indication to ICD Based on sudden cardiac death risk models.928930 Consider ICD implantation if: family history of sudden cardiac death in one or more first degree relatives under 40 years of age or sudden cardiac death in a first degree relative with confirmed HCM at any age; - NSVT; unexplained syncope.931 Fabry disease Enzyme replacement therapy (alpha-galactosidase A deficiency).895 Amyloidosis. See section 14.6 and Figure 21. AV= atrio-ventricular; BAG3= Bcl2-associated athanogene 3; ECG= electrocardiogram; HCM= hypertrophic cardiomyopathy; ICD= implantable cardioverter-defibrillator; LGE= late gadolinium enhancement; LMNA =lamin A/C; LV= left ventricular; LVEF= left ventricular ejection fraction; LVOT= left ventricular outflow tract; LVOTO= left ventricular outflow tract obstruction; MHC= myosin heavy chain; MYPC= myosin-binding protein C; NSVT= non-sustained ventricular tachycardia; NYHA= New York Heart Association; OMT = optimal medical therapy; PLN= phospholamban; RMB20= ribonucleic acid binding motif 20; RV= right ventricular; TNNT =troponin-T; TTN= titin. aThe list of genes is not exhaustive, and will change over time, with increasing knowledge of the pathogenicity. Contact the genetic department to ask which core panel of genes they are using. ESC 2021 Downloaded from academic.oup.com/eurheartj/article/42/36/3599/6358045 by guest on 07 October 2026