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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. Affected male (squares) and female subjects (circles) are shown as solid black. The 49-year-old woman proband (patient I, arrow), affected by dilated cardiomyopathy with diffuse T wave inversion at ECG (IA), underwent heart transplantation due to severe heart failure. The histopathological examination of the explanted heart showed extensive mid-wall fibrosis with fibrofatty replacement on the right ventricular side of the septum (IB), hypertrophy and sarcoplasmic vacuolation of cardiomyocytes (IC). Her 47-year-old sister (patient II) showed normal echocardiographic phenotype, frequent premature ventricular beats at ECG, infero-lateral T wave inversion and peripheral low voltages (IIA); at cardiac magnetic resonance (CMR) T1-weighted sequences detected a linear fatty infiltration of mid-wall interventricular septum (IIB) and a diffuse mid-wall/subendocardial and circumferential late gadolinium enhancement (LGE) on anterior, septal and inferior walls of left ventricle (IIC). Patient III was asymptomatic, ECG and echocardiogram were normal (IIIA), but CMR revealed a small area of subepicardial fat on infero-basal septum (IIIB) and a focal mid-wall/subendocardial distribution of LGE on inferior wall (IIIC).