Fetal intervention for critical aortic stenosis: advances, research and postnatal follow-up.
Marantz P, Grinenco S.
Curr Opin Cardiol. 2015 Jan;30(1):89-94. doi: 10.1097/HCO.0000000000000128.
PMID: 25389651 [PubMed – in process]
Select item 25483950
Comment from Dr. Younes Boudjemline (Paris) and co-editor Dr. Mehul Patel (Grand Rapids MI), editors of congenital heart disease interventions Journal Watch: This review highlights the most recently reported data and advances on the fetal aortic valvuloplasty intended to alter the natural history of hypoplastic left heart syndrome. Recently reported short-term and middle-term results are encouraging. Experimental research including multicenter studies on procedural aspects is ongoing, with no definite results. Slowly but steadily this field is certainly moving ahead in all fronts with advances in the understanding of the prenatal and postnatal process of aortic stenosis evolving to hypoplastic left heart syndrome, effects of fetal aortic valvuloplasty and refinements in the procedural steps. Planning anticipated postnatal therapeutic strategies for these patients is extremely crucial. Newer procedural aspects are being studied with animal models, but still need far more experience before human application. Continued research and collaboration is the key to success.
Array CGH as a first-tier test for neonates with congenital heart disease.
Bachman KK, DeWard SJ, Chrysostomou C, Munoz R, Madan-Khetarpal S.
Cardiol Young. 2015 Jan;25(1):115-22. doi: 10.1017/S1047951113001868. Epub 2013 Nov 6.
PMID: 24192140 [PubMed – in process]
Select item 24168719
Comment from Dr. Shaji Menon (Salt Lake City, UT), section editor of Fetal Cardiology Journal Watch: Copy number variants defined as any DNA segment >1 kb in length with variable copy number in comparison to a reference genome are a known etiology for congenital heart diseases. This prospective study from the University of Pittsburgh assessed the utility of array comparative genomic hybridization as a first-tier diagnostic test for detection of copy number variants in neonates with congenital heart disease. Of 45 patients tested, three (6.7%) had abnormal classical cytogenetic analysis. However, the detection rates was higher using comparative genomic hybridization which detected an additional 10 (22.2%) copy number variants (p =0.008). Although the detection rate is higher with comparative genomic hybridization the possibility of incidental findings and results of uncertain clinical significance is higher and this should be discussed by a genetic counsellor at the time of parental consent for the testing.
Endocardial Fibroelastosis is Caused by Aberrant Endothelial to Mesenchymal Transition.
Xu X, Friehs I, Zhong Hu T, Melnychenko I, Tampe B, Alnour F, Iascone M, Kalluri R, Zeisberg M, Del Nido PJ, Zeisberg EM.
Circ Res. 2015 Jan 13. pii: CIRCRESAHA.114.305629. [Epub ahead of print]
PMID: 25587097 [PubMed – as supplied by publisher]
Select item 25587099
Comment from Dr. Shaji Menon (Salt Lake City, UT), section editor of Fetal Cardiology Journal Watch: Endocardial fibroelastosis (EFE) is characterized by a thick and restrictive fibrous subendocardial tissue layer encapsulating the myocardium and stunting its growth. This is often seen in patients with hypoplastic left heart syndrome. Surgical removal of this restrictive EFE layer is important during staged surgical palliation to improve the diastolic function of the left ventricle and establishing a two ventricle circulation in borderline left ventricles. This study evaluates the pathomechanisms underlying EFE formation using a novel EFE model of heterotopic transplantation of hearts from newborn reporter mice and by analyzing human EFE tissue. This novel study shows that fibrogenic cells within EFE tissue originate from endocardial endothelial cells via aberrant endothelial mesenchymal transition (EndMT) caused by dysregulated TGFβ/BMP signaling. Supplementation of exogenous recombinant BMP7 effectively ameliorates EndMT and experimental EFE in rats (figure 5). This study provides novel insights in to fibrogenesis in congenital heart disease.
The effect of a triple therapy on maternal anti-Ro/SS-A levels associated to fetal cardiac manifestations.
Martinez-Sanchez N, Marhuenda ÁR, Doforno RÁ, Viejo A, Alvarado EA, Bronte LD, Rasero JL.
Autoimmun Rev. 2015 Jan 17. pii: S1568-9972(15)00017-8. doi: 10.1016/j.autrev.2015.01.005. [Epub ahead of print] Review.
PMID: 25599954 [PubMed – as supplied by publisher]
Select item 25602174
Comment from Dr. Shaji Menon (Salt Lake City, UT), section editor of Fetal Cardiology Journal Watch: Although this is a case report of 3 patients. This reports is intriguing in its findings that the triple therapy combining steroids, plasmapheresis and intravenous immunoglobulins (IVIG) reduced maternal anti Ro/SS-A antibody levels in cases of fetal cardiac involvement and has the potential to stop the natural evolution of the fetal cardiac affectation in positive anti-Ro/SS-A antibody patients. The natural evolution of the disease was stopped by this therapy in two of the three reported cases, signs of cardiac inflammation decreased and none of the newborns needed neonatal pacemaker.
Influence of birthweight on perinatal outcome in fetuses with antenatal diagnosis of congenital heart disease.
Story L, Pasupathy D, Sankaran S, Sharland G, Kyle P.
J Obstet Gynaecol Res. 2015 Jan 13. doi: 10.1111/jog.12652. [Epub ahead of print]
PMID: 25582154 [PubMed – as supplied by publisher]
Select item 25595611
Comment from Dr. Shaji Menon (Salt Lake City, UT), section editor of Fetal Cardiology Journal Watch: In this interesting retrospective cohort study from London, the investigators evaluate the incidence and outcomes of small for gestational age (SGA) in fetuses with congenital heart disease (CHD). In comparison to the population SGA rates of 10% in this cohort of 307 fetuses with CHD, 17% were associated with a birth weight centile <10th when standard population centiles were used. They found that the cardiac subgroup with the highest rates of SGA (26%) was tetralogy of Fallot. The pathophysiological mechanism for this higher incidence of SGA in CHD cohort is unknown. However, the possible mechanisms may include higher incidence of CHD in SGA fetuses or altered circulatory flow mechanics in CHD fetuses causing growth retardation. Although the SGA rates were significantly higher in the CHD cohort, survival up to the end of the neonatal period was similar in cohort with a birth weight centile less than the 10th compared to those with a birth weight centile >10th. Delivering fetuses with CHD early when the estimated fetal weight is low may not confer survival benefit.