Cardiovascular Magnetic Resonance Imaging in Familial Dilated Cardiomyopathy

Abstract

Dilated cardiomyopathy (DCM) is a common cause of non-ischaemic heart failure, conferring high morbidity and mortality, including sudden cardiac death due to systolic dysfunction or arrhythmic sudden death. Within the DCM cohort exists a group of patients with familial disease. In this article we review the pathophysiology and cardiac imaging findings of familial DCM, with specific attention to known disease subtypes. The role of advanced cardiac imaging cardiovascular magnetic resonance is still accumulating, and there remains much to be elucidated. We discuss its potential clinical roles as currently known, with respect to diagnostic utility and risk stratification. Advances in such risk stratification may help target pharmacological and device therapies to those at highest risk.

Advances in dilated cardiomyopathy evaluation via cardiac MRI diagnosis and prognosis: a literature review

“…Echocardiography has defined DCM as follows: LV enlargement; LV end diastolic diameter (LVEDD) greater than 117% (2SD (112%) plus 5%); LV end diastolic volume (LVEDV) greater than 2SD of the predicted value, as corrected for age and body surface area, excluding any known cause resulting in the myocardial abnormality observed (Lau et al, 2023). These parameters indicate the degree of systolic impairment.…”

“…The gold standard for measuring myocardial mass, ejection fraction, and ventricular volume is cardiovascular magnetic resonance imaging (CMR). Furthermore, myocardial oedema is detected by CMR and, if present, may indicate an inflammatory aetiology for the observed phenotype (Lau et al, 2023). A large extracellular volume (ECV) percentage and a long native myocardial T1 duration may be useful in distinguishing DCM from iron overload cardiomyopathy or athletic heart adaptation.…”

“…A major development in cardiovascular imaging is the use of CMR in the diagnosis and prognostication of DCM. Conventional DCM diagnostic standards have mostly depended on echocardiography, emphasizing systolic dysfunction and left ventricular hypertrophy (Lau et al, 2023). Nonetheless, cine sequences and steady-state free precession (SSFP) imaging provide accurate assessment of chamber size, myocardial wall thickness, and ventricular function, making CMR a unique benefit .…”

“…The talk focuses on the changing role of CMR in treating familial DCMs, a condition in which a hereditary predisposition makes therapy and disease progression more difficult (Lau et al, 2023). According to Neubauer et al (2019), CMR is the gold standard for evaluating cardiac anatomy and function in these patients due to its superiority in estimating myocardial mass, ejection fraction, and ventricular volume.…”