Fig. 2Figure 2
Imaging findings of the affected individuals. Prenatal ultrasound scans at the level of four-chamber view of individuals of family 1 ( A : Voluson S8, AB2-7 convex abdominal ultrasound transducer 2–8 MHz; B : Voluson E8, RAB 6-D convex abdominal transducer 2–8 MHz; C , D : Philips EPIQ Elite, V 2–7 convex abdominal ultrasound transducer 2–9 MHz): fetus 1.1 at 28 weeks of gestation ( A ) and fetus 1.3 at 31 weeks of gestation ( B ) showing edematous skin and lungs maximally compressed by massive pleural effusions, polyhydramnios. Prenatal myocardial hypertrophy in fetus 1.2 at 25 weeks of gestation ( C ) and in fetus 1.3 at 28 weeks of gestation ( D ). Postnatal ultrasound scans of individual 1.2 (Zonare ZS3, Mindray, USA): E spongy left ventricular myocardium (nonstandard plane nonstandard with 20 MHz linear transducer), F frontal hygroma in parasagittal view (blue crosses mark a distance of 1.2 cm, 7,5 MHz curved array transducer). G Postmortem babygram of individual 1.2 (bor