Non-compacted myocardium and foetal left isomerism as a hydrops’ aetiology

Abstract

We present a case report of a pregnant woman with increased risk for trisomy 21 at first-trimester screening, assessed by ultrasonography, that was sent to our hospital. Amniocentesis was performed at 14 weeks and 2 days to obtain foetal karyotype that was normal (46,XX). At 19 weeks and 1 day, foetal hydrops associated with cardiac malformation was detected by routine scan. Foetal echocardiogram revealed a complete auriculoventricular septal defect, non-compacted myocardium, and a bradycardia of 70-90 beats per minute, which lead to the suspicion of left isomerism. Foetal death occurred at 20 weeks and 3 days. Autopsy was consistent with the prenatal diagnosis.

Fetal Ventricular Hypertrabeculation/Noncompaction: Clinical Presentation, Genetics, Associated Cardiac and Extracardiac Abnormalities and Outcome

“…Eight cases (9 %, female n = 2, male n = 3, gender unknown n = 3) died prenatally [7,17,24,41,43,47], with confirmation of LVHT at autopsy in four cases [7,24,41,47]. Of these eight cases, LVHT was associated with structural cardiac and extracardiac abnormalities in four cases [7,17,47], with restrictive cardiomyopathy in one case [24], and it was isolated in the remaining three cases [41,43].…”

“…Between 2000 to 2009, 29 cases (33 %) were published [1,7,12,17,24,32,38,39,43,44,48,49]. Since 2010, 57 cases (65 %) were published [3,4,14,28,30,41,45,47,52,55,57,58,60]. The majority of the cases (n = 49, 56 %) were reported from hospitals in the USA [1,3,4,7,12,17,24,30,35,38,57,58].…”

“…The majority of the cases (n = 49, 56 %) were reported from hospitals in the USA [1,3,4,7,12,17,24,30,35,38,57,58]. Nine cases were reported from China [52], eight cases from Canada [60], five cases from France [39,62], five cases from Turkey [43], three cases form the UK [32,48], two cases each from Italy and the Netherlands [28,44,45] and one case each from Ireland, Greece, Portugal, Japan and Belgium [14,41,47,49,55]. The ethnicity is only reported in three cases of African origin [32,39,47].…”

“…Fetal hydrops, defined as abnormal accumulation of fluid in two or more fetal compartments, such as ascites, pleural effusion, pericardial effusion, and skin edema, was present in 29 cases (33 %) and absent in 42 cases (47 %), and in the remaining 17 cases (19 %), no information about hydrops is given. LVHT was associated with complete heart block in 30 cases (34 %) [3,4,7,14,17,32,47], sinus Chin et al [11] Two-layered structure with an epicardial compacted and endocardial noncompacted layer with X/Y ratio B0.5 at end diastole Jenni et al [31] Two-layered structure with an epicardial compacted and endocardial noncompacted layer with NC/C ratio C2 at end systole; color Doppler evidence of intertrabecular recesses supplied by intraventricular blood, absence of coexisting cardiac structural abnormalities Stöllberger et al [51] [3 trabeculations protruding from the left ventricular wall apically to the papillary muscle visible in one imaging plane at end diastole; two-layered myocardium with NC/C ratio C2 at end systole; intertrabecular spaces perfused from the ventricular cavity, as visualized on color Doppler imaging bradycardia in seven cases (8 %) [3,17,24,32,52,62], supraventricular tachycardia in five cases (6 %) [39,43,62] and AV block II in three cases [1,3]. In two cases, VHT was confined to the right ventricle exclusively [1,52].…”

“…Extracardiac abnormalities associated with fetal LVHT were hypoplastic lungs (n = 3) [7,47,52], abdominal heterotaxia (n = 1) [7], omphalocele (n = 2) [7,32], polysplenia (n = 2) [7,47], bilateral hydronephrosis (n = 2) [32,39], multicystic kidneys (n = 1) [32], hypoplastic/dysplastic kidneys (n = 3) [47,52], absent gallbladder (n = 1) [32], extrabiliary atresia (n = 1) [32], hepatopathy (n = 1) [60], mild developmental delay (n = 1) [38], single umbilical artery (n = 1) [39], microcephaly (n = 1) [39], Toriello-Carey syndrome (n = 1) [44], broad forehead (n = 1) [49], flat nose (n = 1) [49], low-set ears (n = 1) [49] and multiple anomalies (n = 2) [60]. Genetic or metabolic abnormalities associated with LVHT were mitochondrial disorders (n = 4) [12,14,57,60], MYH7 mutations (n = 3) [28,41], and 1 p 36 deletion (n = 1) [60].…”