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Review
. 2023 Mar 9;11(3):834.
doi: 10.3390/biomedicines11030834.

Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification

André Ferreira  1 , Vera Ferreira  1 , Miguel Marques Antunes  1 , Ana Lousinha  1 , Tiago Pereira-da-Silva  1 , Diana Antunes  2 , Pedro Silva Cunha  1 , Mário Oliveira  1 , Rui Cruz Ferreira  1 , Sílvia Aguiar Rosa  1
Affiliations
Review

Dilated Cardiomyopathy: A Comprehensive Approach to Diagnosis and Risk Stratification

André Ferreira et al. Biomedicines. .

Abstract

Dilated cardiomyopathy (DCM) represents one of the most common causes of non-ischemic heart failure, characterised by ventricular dilation alongside systolic dysfunction. Despite advances in therapy, DCM mortality rates remain high, and it is one of the leading causes of heart transplantation. It was recently recognised that many patients present minor structural cardiac abnormalities and express different arrhythmogenic phenotypes before overt heart-failure symptoms. This has raised several diagnostic and management challenges, including the differential diagnosis with other phenotypically similar conditions, the identification of patients at increased risk of malignant arrhythmias, and of those who will have a worse response to medical therapy. Recent developments in complementary diagnostic procedures, namely cardiac magnetic resonance and genetic testing, have shed new light on DCM understanding and management. The present review proposes a comprehensive and systematic approach to evaluating DCM, focusing on an improved diagnostic pathway and a structured stratification of arrhythmic risk that incorporates novel imaging modalities and genetic test results, which are critical for guiding clinical decision-making and improving outcomes.

Keywords: arrhythmogenic left ventricle cardiomyopathy; cardiovascular magnetic resonance; dilated cardiomyopathy; genetic testing; reverse remodelling; risk stratification.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Integrated approach for the diagnostic work-up and risk stratification of DCM. Abbreviations; LVEF: left ventricular ejection fraction, CV: cardiovascular, ECG: electrocardiography, ACM: arrhythmogenic cardiomyopathy, DCM: dilated cardiomyopathy, NSVT: non-sustained ventricular tachycardia, PVC: premature ventricular contraction, RV: right ventricle, GLS: global longitudinal strain, LGE: late gadolinium enhancement, ECV: extracellular volume, TTN: Titin, LMNA: Lamin A/C, MYH7: Myosin heavy chain, TNT2: Troponin T, MYBPC3: Myosin binding protein C, PLN: Phospholamban, FLNC: Filamin C, RBM 20: RNA Binding Motif Protein-20.
Figure 2
Figure 2
(I) Case 1 of a patient with a heterozygous variant c.1150G>T, p.(Glu384*) in the LMNA gene [NM_170707.3], classified as pathogenic, exhibiting atrial fibrillation, low QRS voltage, QS morphology in leads V1V3 and two polymorphic ventricular complexes on ECG (A); Echocardiography showing dilated left ventricle (LV) and severely reduced left ventricular ejection fraction (LVEF) (33%) and impaired global longitudinal strain (GLS), average GLS −10.8% (C,E) and cardiovascular magnetic resonance revealing a pattern of laminar intramural late gadolinium enhancement (LGE) in the septum and inferior wall (G). (II) Case 2 of a patient with a heterozygous variant c.54278_54279delCT (p.Pro18093Argfs*5) in the TTN gene [NM_001256850.1], classified as likely pathogenic, showing diffuse ST-T change on ECG (B); Echocardiography presented dilated LV, global hypokinesis and severely impaired LV systolic function (LVEF 12%, GLS -2.8%) (D,F) and no areas of LGE found on CMR (H).
See this image and copyright information in PMC

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