PMC9538354_01
The pedigree and cardiac examinations of the proband (II-2) and her son (III-1). (A) The pedigree of the proband (arrow) and her family. (B) Echocardiography of the proband (II-2) shows dilated LV and LA with LVEDD 78 mm and poor LV function, with EF 32% and ICD lead in situ. (C) Echocardiography of the proband's son (III-1) shows dilated LV and LA with LVEDD 78 mm and poor LV function with EF 22.8%, with the ICD lead in situ. (D) Genetic study of the proband's family. Sanger sequencing reveals a deletion mutation in the proband (II-2) and her son (III-1), suggesting a dominant inheritance pattern for this variant. EF: ejection fraction; ICD: implantable cardioverter defibrillator; LA: left atrium; LV: left ventricle; LVEDD: left ventricular end-diastolic diameter.
fgene-13-954931-g001.jpg
PMC9538354_01_fgene-13-954931-g001.jpg
F1
A 49-year-old female presented to our hospital with dyspnea on exertion and chest tightness for 2 months (Figure 1A). In echocardiography, her left ventricular end-diastolic diameter (LVEDD) was 78 mm and the ejection fraction by Simpson's biplane method was 32% with moderate mitral regurgitation (Figure 1B). Notably, the proband's son was diagnosed with DCM at the age of 24 years with ejection fraction 22.8% and LVEDD 78.2 mm in the initial echocardiography (Figure 1C). This unreported heterozygous deletion, c.6384delG (p.Glu2128SerfsTer18), in DSP (NM_001008844) leads to premature termination codon (PTC) formation (Figure 1D).