Cardiovascular Magnetic Resonance Imaging in Familial Dilated Cardiomyopathy

Figures

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  Figure 1. CMR multiparametric characteristics in non-ischaemic DCM. (A) Male patient with LMNA-related DCM showing regional prolongation of native T1 time in the septum (interstitial expansion) along with mild oedema and diffuse fibrosis. Typical pattern of mid-wall fibrosis in the septum. (B) Female patient with EDMD and cardiomyopathy with CMR showing normal biventricular size with mildly impaired LV systolic function and basal septal and inferior mid-wall fibrosis. (C) Male patient with FLNC mutation, positive family history of SCD, and CMR showing moderately impaired LV function and prominent ring of subepicardial fibrosis from basal to mid LV. (D) Male patient with TTN mutation and CMR showing dilated, globular, and dyscoordinate LV with moderate systolic impairment and basal septal mid-myocardial LGE and basal lateral epicardial LGE. * Scans performed at 3 T where different normal ranges apply.

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  Figure 2. Examples of differing patterns of late gadolinium enhancement in genetic DCM, with typical pattern of mid-wall (arrows) and subepicardial LGE (star). (A) A 35 year-old male patient with a likely pathogenic variant in TTN (heterozygous for c.78493C > T nucleotide substitution leading to premature termination of translation in titin). The left ventricle is severely dilated with biventricular systolic impairment. (B) A 28 year-old female patient with a likely pathogenic variant in LMNA (heterozygous for c.513 + 1G > A nucleotide substitution, is predicted to lead to aberrant splicing). There is normal LV size and function but increased LV trabeculation, which does not fulfil Petersen criteria for non-compaction. (C) A 50 year-old male patient with a likely pathogenic variant of DSG2 (heterozygous for c.136C > T nucleotide substitution, leading to defective protein cleavage). There is biventricular dilatation and severe systolic impairment.