Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview

Figure 1. Different phenotypes of PCM illustrating HCM at 32 + 3 weeks gestation (A), isolated NCCM affecting only the right ventricle at 28 + 0 weeks (B), and RCM 34 + 5 (C).

Figure 2. Dilative cardiomyopathy at the four chamber view in a fetus at 34 + 3 weeks gestation (A). Corresponding M-Mode cursor through the ventricles in an axial four chamber view of the fetal heart (B), with the corresponding M-Mode tracing (C). End-diastolic (EDD) (Z-score 3.48) and end-systolic (ESD) (Z-score 6.23) diameter of the right ventricle can be measured accurately to evaluate the shortening fraction (SF) [16]. EDD and ESD are demonstrated to be nearly the same with an SF of less than 5%. Changes in right ventricular diameters during the cardiac cycle are only caused by movement of the interventricular septum (IVS) (C).

Figure 3. Flowchart summarizing the outcome of 21 fetuses prenatally diagnosed with primary CM.

Figure 4. Scatterplot of global sphericity index (GSI) (A) and right ventricular basal sphericity index (SI) (B), according to gestational age of fetuses affected by primary CM, differentiated by provided phenotypes. Estimated 5th (lower), 50th (middle), and 95th (upper) centile curves are shown.

Figure 5. Flowchart illustrating a possible fetal echocardiographic examination in cases of suspected PCM. Mixed phenotypes and new echocardiographic techniques are not listed for better orientation. Arrows represent frequent occurrence (AV = artioventricular; ARVC = Arrhythmogenic right ventricular cardiomyopathy; CV = cardiac ventricles; CVPS = cardiovascular profile score; DV = ductus venosus; GSI = global sphericity index; RV SI = right ventricular basal sphericity index; MPI = myocardial performance index; IVCT = isovolumetric contraction time; IVRT = isovolumetric relaxation time; iNCCM* = may affect also both ventricles or occur with the other phenotypes).