‘Post-LA space index’ as a potential novel marker for the prenatal diagnosis of isolated total anomalous pulmonary venous connection.

‘Post-LA space index’ as a potential novel marker for the prenatal diagnosis of isolated total anomalous pulmonary venous connection.

Kawazu Y, Inamura N, Shiono N, Kanagawa N, Narita J, Hamamichi Y, Kayatani F.

Ultrasound Obstet Gynecol. 2014 Dec;44(6):682-7. doi: 10.1002/uog.13357. Epub 2014 Oct 30.

PMID: 24604577 [PubMed – in process]

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Comment from Dr. Shaji Menon (Salt Lake City), section editor of Fetal Cardiology Journal Watch:  Prenatal diagnosis of total anomalous pulmonary venous connection (TAPVC) can be challenging. However, prenatal diagnosis of TAPVC will improve postnatal outcome of these infants by reducing complications associated with delayed diagnosis. Authors in this study describe a novel fetal echocardiogram measurement, post-LA space index for prenatal diagnosis of total anomalous pulmonary venous return. This is the ratio of left atrium – descending aorta distance (LD in figure) and descending aorta diameter. A post-LA space index cut-off of 1 distinguished a TAPVC fetus from a normal fetus with a sensitivity of 100% and a specificity of 89%. The specificity of post-LA space index increased to 97% when the ratio of > 1.27 was used. There was no difference in post-LA space index between supracardiac and infracardiac TAPVC.

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Prenatal Diagnosis and Outcome of Right Aortic Arch without Significant Intracardiac Anomaly.

Prenatal Diagnosis and Outcome of Right Aortic Arch without Significant Intracardiac Anomaly.

Razon Y, Berant M, Fogelman R, Amir G, Birk E.

J Am Soc Echocardiogr. 2014 Dec;27(12):1352-8. doi: 10.1016/j.echo.2014.08.003. Epub 2014 Sep 17.

PMID: 25240492 [PubMed – in process]

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Comment from Dr. Shaji Menon (Salt Lake City), section editor of Fetal Cardiology Journal Watch:  This is a retrospective observational study of 58 fetuses diagnosed with right aortic arch (RAA) (8 with possible double aortic arch) on a fetal echocardiogram from Israel.  The authors describe the postnatal diagnosis and outcome of 52 of these patients. The prevalence RAA without significant structural heart disease was 0.35% in this study. Four patients who were prenatally diagnosed with RAA were found to have double aortic arch (DAA) on postnatal evaluation. Although not all fetuses had chromosomal analysis, of those who underwent genetic testing (15) 9% were found to have a either a chromosomal defect or 22q11.1 deletion. This study demonstrates the feasibility of diagnosis of aortic arch anomalies on fetal echocardiogram. Presence of a RAA on fetal echocardiogram should alert us to the possibility of a vascular ring including DAA and fetal genetic testing may be warranted to exclude 22q11.1 deletion or other chromosomal defects.

fetal 7.1

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Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease.

Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease.

Huber J, Peres VC, de Castro AL, Dos Santos TJ, da Fontoura Beltrão L, de Baumont AC, Cossio SL, Dalberto TP, Riegel M, Cañedo AD, Schaan BD, Pellanda LC.

Pediatr Cardiol. 2014 Dec;35(8):1356-62. doi: 10.1007/s00246-014-0936-0. Epub 2014 Jun 1.

PMID: 24880467 [PubMed – in process]

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Comment from Dr. Shaji Menon (Salt Lake City), section editor of Fetal Cardiology Journal Watch:  This is a cross-sectional study of 392 patients with congenital heart disease from Brazil aimed at estimating the prevalence and clinical features of 22q11.2 deletion using a low cost and screening strategy using polymerase chain reaction (PCR) followed by length polymorphism restriction fragment analysis (RFLP). Fluorescence in situ hybridization (FISH) test is commonly used to identify 22q11.2 deletion and this test can detects more than 95 % of cases. However, in countries with limited health care resources it can be expensive, time consuming, and not widely available, precluding its use for widespread screening. Previous studies have reported a screening strategy using PCR assays with analysis of RFLP based on homozygosity at consecutive markers in the DiGeorge chromosomal region have been shown to be a highly sensitive and specific for detection of 22q11.2 microdeletions at a lower cost.  In this study a low cost PCR–RFLP was initially performed to exclude the deletion followed by FISH or multiplex ligation-dependent probe amplification (MLPA) for final diagnosis. A PCR–RFLP for analysis of polymorphism in three loci with a high heterozygosity rate located in the typically deleted region of 1.5 megabases found a 22q11.2 deletion prevalence of 1.27 % (5 of 392 patients; 95 % CI, 0.16–2.38 %). Low cost and rapid PCR–RFLP complemented by MLPA and FISH for the final diagnosis can be a low cost and effective screening strategy for detection of 22q11.2 deletion in CHD patients especially in limited resource countries.

fetal 6.1

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A detailed comparison of mouse and human cardiac development.

A detailed comparison of mouse and human cardiac development.

Krishnan A, Samtani R, Dhanantwari P, Lee E, Yamada S, Shiota K, Donofrio MT, Leatherbury L, Lo CW.

Pediatr Res. 2014 Dec;76(6):500-7. doi: 10.1038/pr.2014.128. Epub 2014 Aug 28.

PMID: 25167202 [PubMed – in process]

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Select item 24947130

Comment from Dr. Shaji Menon (Salt Lake City), section editor of Fetal Cardiology Journal Watch:  Mouse models are often used for studying human congenital heart defects. This study performed a systematic comparative analysis of mouse and human fetal cardiovascular development.

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fetal 5.2

fetal 5.3

 

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Mutations in NTRK3 Suggest a Novel Signaling Pathway in Human Congenital Heart Disease.

Mutations in NTRK3 Suggest a Novel Signaling Pathway in Human Congenital Heart Disease.

Werner P, Paluru P, Simpson AM, Latney B, Iyer R, Brodeur GM, Goldmuntz E.

Hum Mutat. 2014 Dec;35(12):1459-68. doi: 10.1002/humu.22688. Epub 2014 Nov 7.

PMID: 25196463 [PubMed – in process]

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Select item 24820231

Comment from Dr. Shaji Menon (Salt Lake City), section editor of Fetal Cardiology Journal Watch:  This study describes a novel pathophysiological mechanism for development of VSDs resulting from mutation in NTRK3 gene. In a previous genome wide study of 58 patients with congenital heart disease (CHD) and no identifiable syndrome, copy number variants (CNC) that deleted 46 genes were identified in patients with mal alignment type ventricular septal defect (VSD). The CNV included a gene NTRK3 encoding neurotropic tyrosine kinase receptor (TrkC) which is essential for normal cardiac development in animals. To evaluate the role of NTRK3 in human CHDs, investigators studied 467 patients with CHDs. For NTRK3 mutation. They identified four missense mutation in NTRK3 gene in 4 patients with VSD. Functional analysis using neuroblastoma cells line expressing mutanat TrkC demonstrated altered cell growth in low-serum conditions without supplemental neutropin 3.

fetal 4.1

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