Fetal myocardial calcifications and non‐compaction: a shared etiology?

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

“…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].…”

“…Familial LVHT was reported in seven (21 %) of these cases: LVHT of the mother, two brothers and one cousin (n = 2) [39], LVHT of the mother (n = 2) [60], LVHT and Ebstein's anomaly of the father (n = 1) [38], LVHT and MYH7 mutation of the grandmother, father and brother (n = 1) [28], and LVHT of a half sister (n = 1) [24]. Further reported familial diseases comprise consanguinity of the parents (n = 2) [43,49], miscarriages of four siblings (n = 1) [45], a brother with Toriello-Carey syndrome (n = 1) [44], death of three uncles of metabolic disorder in childhood (n = 1) [49], cardiac murmur of the father in childhood (n = 1) [7], unspecified cardiac problems of the mother in childhood (n = 1) [57], father with dilated cardiomyopathy and MYH7 mutation (n = 1) [28], sibling with transposition of the great arteries (n = 1) [43], grandmother with systemic Lupus erythematodes and mother with ankylosing spondylitis (n = 1) [32], mother with Ebstein's anomaly (n = 1) [35] and mother with arterial hypertension (n = 1) [47]. In six cases, healthy parents are reported [14,32,38,55], an ''unremarkable family history'' in four cases [43], no history of cardiac disease in one further case [12] and normal electrocardiograms of the parents in one case [1].…”

“…Two further patients died within the first year of life: one female patient with mitochondriopathy at age 7 months because of a respiratory infection and the other female patient with structural cardiac abnormalities at age 2 months because of sudden death [43,57]. Thirty-three patients (38 %, females n = 14, males n = 9, gender unknown n = 10) are reported to be alive [1,3,4,12,14,17,19,28,30,32,35,38,39,43,45,48,49,52,55,58,60]. The age at survival is reported in 18 cases and ranges between 15 days to 10 years with a mean age of 26 months (see Table 1 in the ESM appendix).…”

“…In three further cases, LVHT was associated with a left atrial thrombus [43], myocardial calcification [45] and restrictive cardiomyopathy [24]. In the remaining 53 cases (60 %), one or more structural cardiac abnormalities were reported.…”

“…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].…”