case_images: PMC11782280_01
case_images: Clinical features of the patient. (a,b) Facial characteristics; (c) Lentigines and pectus excavatum; (d) Facial lentigines and dental malalignment; (e) Left foot deformity.
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case_images: F1
case_images: Left-sided talipes equinovarus was also noted (Figure 1).
case_images: Cardiac imaging findings. (a) Apical four-chamber view: the left atrium has a vertical diameter of 8.9 cm and a transverse diameter of 5.9 cm; the right atrium has a vertical diameter of 9.2 cm and a transverse diameter of 6.6 cm. (b) Left ventricular long-axis view: left ventricular end-diastolic diameter (LVEDD) is 5.8 cm, left ventricular posterior wall thickness (LVPWT) is 1.1 cm, interventricular septal thickness (IVS) is 1.0 cm, and right ventricular anteroposterior diameter is 2.4 cm. (c) Anteroposterior chest x-ray showed significant heart enlargement.
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case_images: PMC11782280_01_fcvm-12-1490436-g002.jpg
case_images: F2
case_images: Echocardiography (UCG) and chest x-ray (Figure 2) revealed global cardiac enlargement (left atrium: anteroposterior diameter 6.4 cm, superior-inferior diameter 8.9 cm, transverse diameter 5.9 cm; right atrium: superior-inferior diameter 9.2 cm, transverse diameter 6.6 cm with an interatrial membrane; left ventricle: end-diastolic diameter 5.8 cm, end-systolic diameter 3.3 cm, posterior wall thickness 1.1 cm, interventricular septum 1.0 cm; right ventricle: anteroposterior diameter 2.4 cm, transverse diameter 5.1 cm), left ventricular ejection fraction 73.7%, severe mitral and tricuspid regurgitation, and an inferior vena cava diameter of 3.6 cm.
case_images: Electrocardiographic findings. (a) ECG on admission: atrial fibrillation. (b) Holter monitoring: multiple premature ventricular contractions of varying morphologies, some occurring in pairs, and short runs of ventricular tachycardia.
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case_images: F3
case_images: ECG indicated atrial fibrillation with a ventricular rate of 117 bpm (Figure 3). 1,530 premature ventricular contractions (PVCs) of various morphologies and 4 short runs of ventricular tachycardia were recorded by Holter ECG throughout the day (Figure 3).
case_images: Sanger sequencing of the PTPN11 variant, exon 12, c.1403 C>T (p.Tyr468Met). (a) Proband: Heterozygous mutation detected at the indicated position (red arrow). (b) Proband's son: Heterozygous mutation detected at the same position (red arrow). (c) Proband's daughter: No mutation detected at this position.
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case_images: PMC11782280_01_fcvm-12-1490436-g004.jpg
case_images: F4
case_images: Whole exome sequencing was performed due to suspicion of NSML, revealing a heterozygous pathogenic variant in PTPN11, exon 12, c.1403 C>T (p.Tyr468Met) in the blood samples of both the patient and her son (Figure 4). However, this mutation was not detected in her daughter's blood sample (Figure 4).