PMC10242075_01
Transthoracic echocardiography was routinely examined from left parasternal long-axis view (A) and apical four-chamber view (B).
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An electrocardiogram (ECG) showed sinus bradycardia with T-wave inversions and premature ventricular contractions (Supplementary Figure S1). Transthoracic echocardiography (TTE) showed decreased systolic function (LVEF = 29%), an enlarged left ventricle (LVEDD = 60 mm), cardiomyopathy, moderate mitral regurgitation and moderate pulmonary hypertension (Figure 1).
Computed tomography coronary angiogram. (A) Course of the LCx on the posterior atrioventricular groove and continuation of its course in the RCA territory along with take-off of the posterior descending artery. (B) Absence of take-off of the RCA from the right coronary sinus of Valsalva (yellow arrow) and normal origin of the LMS which bifurcates into the LAD and LCX. LAD, left anterior descending artery; LCX, left circumflex artery; LMS, left main stem artery; RCA, right coronary artery.
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The distal end of the LCX continued its course beyond the crux into the atrioventricular groove, supplying the right atrium and right ventricle with a superdominant LCX without stenosis and a calcium score of zero Agatston units (Figure 2).
Cardiac magnetic resonance imaging showed DCM. CMR detected dilation of the left ventricle (LVEDV = 296.2 ml), reduction of cardiac systolic function (CO = 3.47l/min, LVEF = 17.2%) and increase of left ventricular mass (LVM = 170.5 g), no signs of storage disease or inflammation. CMR, Cardiac magnetic resonance imaging; LVEDV, left ventricular end-diastolic volume; LVEF, left ventricular ejection fraction; CO, cardiac output.
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CMR showed reduced left ventricular systolic function (LVEF = 17.2%), left ventricular enlargement (LVEDV = 296.2 ml), thinning of the myocardium and abnormal delayed reinforcement in the basal segment of the ventricular septum, which was consistent with the diagnosis of DCM (Figure 3).
Sanger sequencing data. (A) SCN5A; NM_198056.2; c.1858C > T; p.Arg620Cys. (B) SCN5A; NM_198056.2; c.1008G > A; p.(Pro336=). (C) APOA5; NM_052968.4; c.990_993delAACA; p.Asp332Valfs*5. (a) proband (b) the son of proband (c) the daughter of proband.
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