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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

Fig. 3

Cardiac magnetic resonance images of a 59-year-old male homozygote for the Thr335Ala in DSG2 (II.5, family 2). Short-axis (a), axial (b) and right ventricular outflow tract (RVOT) (c) views of the heart show aneurysmal dilatation of the RVOT (arrows). Maximum dimension of the aneurysm was 67 mm and right ventricular end-diastolic volume index (RVEDVI) was 109 ml/m2. During follow-up, further dilatation of the aneurysm and the RV was observed. Four-chamber view shows rare microaneurysms in the right ventricular free wall (arrowheads) (d). LV = left ventricle; RV = right ventricle; RVOT = right ventricular outflow tract; RA = right atrium; AO = aorta

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BMC Medical Genetics

ISSN: 1471-2350

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