case_images: PMC10242036_01
case_images: Electrocardiography manifestation in the current proband. (A) An abnormal Q wave had been found in II, III, aVF, V5, and V6 leads. (B) Multiple premature ventricular beats. (C) Paired premature atrial beats.
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case_images: PMC10242036_01_fcvm-10-1150657-g001.jpg
case_images: F1
case_images: An ECG was performed immediately, and abnormal Q waves were observed in the II, III, aVF, V5, and V6 leads (Figure 1A). Holter scanning revealed multiple premature ventricular beats and atrial tachycardia, while abnormal Q waves were also identified in the II, III, aVF, and V3-V6 leads (Figures 1B, C).
case_images: Clinical and radiographic manifestation of the current proband. (A) Echocardiography revealed a slight enlargement of the left ventricle. (B-B'). Cardiac magnetic resonance showed myocardial edema in the lateral ventricular wall and apex, indicating localized injures of the myocardium. (C-C"). CTA revealed normal right coronary artery structure. (D-D") CTA revealed normal left coronary artery structure. (E) Coronary artery rebuilding based on CTA. (F-F') Angiographic images of the left coronary artery; no significant positive result was recorded.
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case_images: PMC10242036_01_fcvm-10-1150657-g002.jpg
case_images: F2
case_images: Echocardiography demonstrated a slight enlargement of the left ventricle (42 mm), while the left ventricular ejection fraction dropped slightly to 46% at the time he was admitted (Figure 2A). Cardiac magnetic resonance (CMR) revealed myocardial edema in the lateral ventricular wall and apex, indicating localized myocardium injuries (Figures 2B, B'). In addition, CT coronary artery angiography was performed to examine the morphology of the coronary arteries (Figures 2C-E). Angiographic images of the left coronary artery were also obtained and no significant positive result was recorded (Figures 2F, F').
case_images: The DSG2 mutations in this family and molecular analysis. (A) The proband exhibited a homozygous variant of DSG2 (c.1592T >G; p.F531C). (B) Sanger sequencing validation. (C) Protein structure predicted by AlphaFold (AF-Q14126-F1). (D) The homozygous variant of DSG2 c.1592T >G had never been reported in 1000G and ExAC, while eight records had been retrieved from the ExAC database. Protein damage was predicted by PolyPhen-2 and SFIT. (E) Altered amino acid structural site of DSG2 p.F531C. (F) Changed free energy on the DSG2 p.F531C site.
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case_images: PMC10242036_01_fcvm-10-1150657-g003.jpg
case_images: F3
case_images: His biological parents were allelic carriers without any clinical manifestations (Figure 3A), and Sanger validation was performed (Figure 3B). The molecular crystal structure was built in AlphaFold (AF-Q14126-F1, Figure 3C), while the extracellular domain protein structure was used for specific site analysis (5erd.1.A, Figure 3E). In addition, the frequency of this mutation in the population according to database research is presented (Figure 3D), but only a few allele carriers were found in previous reports. Then, we used SWISS-MODEL to illustrate the mutation site of p.F531C (Figure 3E). The ensemble variance of p.F531C indicated free energy changes after the amino acid change (Figure 3F).