TABLE 1.
Correlation analysis of patient characteristics and cystatin C levels
| Case 1 | Case 2 | Case 3 | Case 4 | |
|---|---|---|---|---|
| Age at diagnosis | 1.4 years | 12 years | 12 years | 17 years |
| Symptoms |
|
|
|
|
| Family history | – |
|
|
|
| ECG |
|
|
|
|
| Holter ECG |
|
|
|
|
| Echocardiography |
|
|
|
|
| MRI |
|
|
|
|
| Genetics | Mutation in the TTN gene (VUS) | Mutation in the TTN gene (VUS) | Mutation in the FLNC gene (VUS) | Mutation in the DSC2 gene (VUS) |
| Treatment | Pharmacological | ICD implantation | ICD implantation | ICD implantation |
[i] DCM, dilated cardiomyopathy; DSC2, Desmocollin 2 gene; EF, ejection fraction; FLNC, Filamin-C gene; HCM, hypertrophic cardiomyopathy; ICD, implantable cardioverter defibrillator; LBBB, left bundle branch block; LV, left ventricle; PVC, premature ventricular complexes; RV, right ventricle; SCD, sudden cardiac death; TTN, titin gene; VT, ventricular tachycardia; VUS, variant of uncertain significance; WPW, Wolf–Parkinson–White syndrome
FIGURE 1.
MRI scans from our cases. A. Apical 4-chamber view of cardiac MRI scan of the first patient reveals biventricular dilatation. B. Right ventricular vertical long-axis view scan in our second patient shows dilated right ventricle, with elevated indexed volume.
FIGURE 2.
Quantification of LV and RV volumes and EF using 3D speckle-tracking analysis. A. Impaired systolic function of the LV with increased volumes. B. Elevated RV volumes and reduced RV EF. C. Illustration of RV strain measurement using speckle-tracking echocardiography showing impaired values of RV GLS and RVFW-LS. ESV, end-systolic volume; EDV, end-diastolic volume; SV, stroke volume. RV GLS, right ventricular global longitudinal strain; RVFW LS, right ventricle free wall longitudinal strain.
FIGURE 2.
Apical 4-chamber view (2D) shows the dilated RV with an aneurysmal apex, and the ICD lead is visible.