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Table 27 Dilated cardiomyopathy or hypokinetic non-dilated cardiomyopathy: specific aspects of diagnosis and treatment

Diagnostic criteria and definitions894,895 DCM: LV dilatation and systolic dysfunction in the absence of known abnormal loading conditions or significant CAD. HNDC: LV or biventricular global systolic dysfunction (LVEF <45%) without dilatation in the absence of known abnormal loading conditions or significant CAD. DCM and HNDC can be considered “familial” if two or more first- or second-degree relatives have DCM or HNDC, or a first-degree relative has autopsy proven DCM and sudden death at <50 years of age. Genetic counselling and testing892,894,898,916 Indication. All patients with a diagnosis of DCM or HNDC and all first-degree adult relatives of these patients and a definite disease-causing mutation, regardless of their phenotype, in order to identify genetically affected individuals at a preclinical phase. First-degree adult relatives should have their evaluation repeated every 5 years or less when aged <50 years or non-diagnostic abnormalities are found. Clinical evaluation, ECG, echocardiography and possibly CMR, must be performed in first-degree relatives of patients. Results. Can identify patients with DCM or HNDC at highest risk of arrhythmia and/or deserving other specific treatments. Early identification of asymptomatic relatives may lead to early treatment and prevention of progression to HF and proper genetic counseling. Minimal set of genesa: TTN, LMNA, MHC, TNNT, troponin-C, MYPC, RBM20, PLN, sodium channel alpha unit, BAG3, actin alpha cardiac muscle, nexilin, tropomyosin-1, vinculin. The use of additional sequencing for the analysis of very large panel of genes may be considered when there is a clear familial history or structural phenotype, by preference combined with family segregation. Endomyocardial biopsy97,907,917919 Indication. In suspected phenotypes requiring specific treatments (i.e. giant cell myocarditis, eosinophilic myocarditis, sarcoidosis, vasculitis, SLE, other systemic, auto-immune inflammatory conditions, or storage diseases). Number of samples. A minimum of 5 but possibly at least 7 samples: 3 for pathology, 2 for infection (DNA, PCR) and 2 for RNA viruses/viral replication.918,919 Aetiology. Search for common cardiotrophic viruses (parvovirus B19, HHV4, HHV6, enteroviruses, adenovirus and coxsackie) by quantitative rtPCR when a viral aetiology is suspected. Viral mRNA for active viral replication should be assessed, if possible. Further assessment if indicated: CMV, HIV, Borrelia burgdorferi (Lyme disease), Coxiella burnetii (Q-fever), Trypanosoma cruzi (Chagas disease) and SARS-CoV-2. Immunohistochemistry. Quantification of CD3-, CD4-, CD8- or CD45- staining lymphocytes and CD68 macrophages per mm2; anti-HLA-DR. Histology. Haematoxylin and eosin staining, fibrosis assessment with Masson’s Trichrome and Picrosirius Red, amyloid fibrils detection with Congo Red. Therapeutic options895,917 HF treatment for HFrEF (see sections 5 and 6) LMNA, RBM20, PLN and FLN mutation. Higher risk of sudden cardiac death: early indication for primary prevention by ICD implantation should be considered (guided by risk factors as detailed).920 TTN mutation. Higher rate of LV reverse remodeling (in up to 70%), but a higher risk of atrial and ventricular tachyarrhythmias. Lyme disease (Borrelia). Treatment with doxycycline. Chagas disease (Trypanosoma cruzi). Specific treatment according to current recommendations.921,922 Auto-immune/inflammatory. Consider immunosuppressive therapy in giant cell myocarditis, eosinophilic myocarditis, sarcoidosis or vasculitis, and in highly selected patients with increased cardiac inflammation of unknown origin based upon multidisciplinary counselling (cardiology and immunology). BAG3 = Bcl2-associated athanogene 3; CAD = coronary artery disease; CMR = cardiac magnetic resonance; CMV = cytomegalovirus; DCM = dilated cardiomyopathy; DNA = deoxyribonucleic acid; ECG = electrocardiogram; FLN = filamin; HF = heart failure; HFrEF = heart failure with reduced ejection fraction; HHV = human herpes virus; HIV = human immunodeficiency virus; HLA-DR = human leukocyte antigen-DR isotype; HNDC = hypokinetic non-dilated cardiomyopathy; ICD = implantable cardioverter-defibrillator; LMNA = lamin A/C; LV = left ventricular; LVEF = left ventricular ejection fraction; MHC = myosin heavy chain; MYPC = myosin-binding protein C; mRNA = messenger ribonucleic acid; NSVT = non-sustained ventricular tachycardia; PCR = polymerase chain reaction; PLN = phospholamban; RBM20 = ribonucleic acid binding motif 20; RNA = ribonucleic acid; rtPCR = reverse transcriptase polymerase chain reaction; SARS-CoV-2 = severe acute respiratory syndrome coronavirus 2; SLE = systemic lupus erythematosus; TNNT = troponin-T; TTN = titin. aThis 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. bRisk factors in patients with a confirmed LMNA mutation: NSVT during ambulatory ECG monitoring, LVEF <45% at first evaluation, male sex and non-missense mutations (insertion, deletion, truncations, or mutations affecting splicing). ESC 2021 Downloaded from academic.oup.com/eurheartj/article/42/36/3599/6358045 by guest on 07 October 2026