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. 2022 Apr 20;9(1):e001914. doi: 10.1136/openhrt-2021-001914

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

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Central illustration: family tree. Black filled symbols stand for affected carriers. The 54-year-old woman proband (patient I, arrow) showed T wave inversion in inferolateral leads at ECG (IA) and a dilated cardiomyopathy at echocardiogram (IB–IC). Her 61-year-old sister (patient II) had a high premature ventricular ectopic beats burden (IB), a hypokinetic non-dilated cardiomyopathy (HNDC) phenotype and an initial subepicardial fatty replacement (IIB) with a semi-circumferential mid-wall distribution of late gadolinium enhancement (LGE) (IIC) at cardiac magnetic resonance (CMR). Patient III had a history of hospital admission at the age of 21 years for chest pain and suspected myocarditis with an HNDC phenotype. During the hospitalisation, non-sustained ventricular tachycardia occurred (IIIA) and CMR showed an extensive intramyocardial oedema at T2-weighted sequences (IIIB) with a mutual mid-wall distribution of LGE (IIIC).