PMC9681897_01
PMC9681897_02
Echocardiographic of the patient's heart. The echocardiography revealed EF 29%, left atrial and left ventricle enlargement (left ventricular endomesosomal diameter 63 mm), reduced ventricular wall pulsation diffusion, decreased left ventricular systolic and diastolic function, and trace pericardial effusion.
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F1
During echocardiography (Figure 1), the left ventricular ejection fraction (EF) was 39%, and left ventricle were enlarged (left ventricle endomesosomal diameter was 63 mm), abnormal ventricular movement, decreased left ventricular systolic and diastolic function, weak mitral regurgitation and trace pericardial effusion.
Gene sequencing results of Sanger method of Duchenne gene mutation in A family [Missense mutation occurred at the 1,207 base of the 11th exon of Duchenne gene in (A) (C.1207 G > T, P.G403x), arrows are the mutation sites, (B-D) are normal phenotypes].
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F2
It was found that neither his parents nor his sister carried heterozygous variation of this locus, and neither of them exhibited any clinical signs of muscular dystrophy (Figure 2).
The abnormal ECG at the admission in June 2022 (Sinus rhythm and tall R wave in V1V2V3, left anterior branch block).
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F3
The myocardial injury was persistent and troponin did not increase or decrease significantly. 24-h Holter electrocardiography showed a mean heart rate of 86 BPM, occasional premature ventricular contractions in pairs (673), occasional premature atrial contractions, and paroxysmal atrial tachycardia (total > 100 BPM, 283, maximum 6 min) (Figure 3). To treat the condition, the oral drugs were adjusted as hormone (in reduction), coenzyme Q10, trimetazidine and