All posts in review

Echocardiographic screening for congenital heart disease

J Cardiol. 2015 Jan 5. pii: S0914-5087(14)00345-1. doi: 10.1016/j.jjcc.2014.11.011. [Epub ahead of print]
Echocardiographic screening for congenital heart disease in 8819 children: A report from local community events for children’s healthcare.
Nishio S1, Kusunose K2, Yamada H3, Yamao M1, Hirata Y1, Mori K4, Matsuoka S5, Sata M3.
Author information
Abstract

Share Button
More

Williams-Beuren Syndrome: Computed Tomography Imaging Review

Williams-Beuren Syndrome: Computed Tomography Imaging Review
Karuna M. Das,Tarek S. Momenah,Sven G. Larsson,Shehla Jadoon,
Abdullah S. Aldosary,Edward Y. Lee

Abstract

Williams-Beuren syndrome (WBS) affects young infants and children. The underlying etiopathogenesis of this rare disease is due to the mutation of the elastin gene that is responsible for the elasticity of the arterial wall. As a result of inadequate elastin production, the major systemic arteries become abnormally rigid and can be manifested by an impediment to the blood flow.

Share Button
More

Kabuki Syndrome

Kabuki Syndrome
a post_it by s.gerboni

Kabuki syndrome, also known as Kabuki makeup syndrome and Niikawa-Kuroki syndrome, was initially described in 1988 by Niikawa et al. Congenital heart disease is commonly associated with Kabuki syndrome, with a reported incidence of 31–58% in large series

Most patients with Kabuki syndrome have five cardinal features:

  1. distinct facial features,
  2. postnatal growth retardation,
  3. developmental delay or mental retardation,
  4. skeletal abnormalities,
  5. and dermatoglyphic abnormalities.

The diagnosis is determined clinically because the chromosomes are normal
and no clinical test exists to confirm the clinical diagnosis of Kabuki syndrome.
The association of cardiac defects with Kabuki syndrome has been well described. The majority of these
defects are isolated shunt lesions, conotruncal abnormalities, or various forms of arch obstruction.
The spectrum of associated cardiac defects is varied.
The finding of left-sided obstructive lesions, specifically coarctation of the aorta, is reported in up to 29% of cases and in my serie three patients have a Shone Sindrome. Only two cases of associated congenital heart disease with single-ventricle physiology have been reported.
Recently were reported a case series of three patients with Kabuki syndrome and single-ventricle physiology, specifically hypoplastic left heart syndrome (HLHS), from a single institution This complete and illustrates the full spectrum of left-sided obstructive lesions and expands the phenotype of cardiac defects associated with Kabuki syndrome.

Share Button
More

2D and 3D Ultrasound in the Evaluation of Normal and Abnormal Fetal Anatomy

Ultraschall Med 2005 26(1):9-16
2D and 3D Ultrasound in the Evaluation of Normal and Abnormal Fetal Anatomy in the Second and Third Trimesters in a Level III Center.

Merz E, Welter

Between July 2000 and December 2003, a total number of 3,472 fetuses was evaluated by two-dimensional (2D) and three-dimensional (3D) ultrasonography. All examinations were carried out as part of a detailed level III ultrasound examination for fetal anomalies. The gestational age was between 11 and 35 weeks. A 3D endovaginal probe (5 – 7 MHz) was used for examinations between 11 and 13 weeks, and an abdominal 3D probe (5 MHz) after 13 weeks. Four different 3D image display modes were employed in visualizing fetal malformations: triplanar orthogonal display; surface display; transparent display; and the combined transparent and color display (= glass body-rendering). In 906 of the 3,472 high-risk pregnancies, fetuses with one to five fetal defects were found (mean 1.17). The total number of detected defects was 1,012, exclusive of 48 fetal heart defects. Fetal heart defects were excluded from this study since a reliable demonstration of these defects was not possible by 3D ultrasound. Comparing the 2D and 3D techniques, 3D sonography proved advantageous in 60.8 % of the defects, with the benefit derived from the exact tomographic survey using the multiplanar view in 69.9 % of these cases, from a more precise demonstration of the defect in the surface view in 25.2 %, from a distinct demonstration in the transparent view in 3.9 %, and from a precise demonstration in the combined transparent and color view in 1.0 %. In 42 of the 1,012 malformations (4.2 %), a defect was accurately identified or verified with 3D ultrasound only. 3D ultrasound proves not only a useful tool in appreciating the severity of a fetal defect, but also provides more convincing evidence of a normal fetus than conventional two-dimensional sonograms in cases with increased risk of a recurrent surface malformation.

Share Button
More

Ultrasonic Biophysical Measurements in the Normal Human Fetus for Optimal Design of the Monolithic Fetal Pacemaker

Ultrasonic Biophysical Measurements in the Normal Human Fetus for Optimal Design of the Monolithic
Fetal Pacemaker
Evgueni Fayn, MD, Howard A. Chou, PhD, DaeGyun Park, MD, PhD, Daniel H. Zavitz, MSc, Bettina F. Cuneo, MD, Vicki L. Mahan, MD, Mehmet Guleçyuz, MD, Letitia Curran, RDMS, David Lipson, PhD,
Edmond W. Quillen, Jr., PhD, Boris M. Petrikovsky, MD, PhD, and Marc Ovadia, MD

Ultrasound measurements, including xiphoid-to-pericardial distance and deployment angle, were made on human fetuses as a function of gestational age for the purpose of assessing the likelihood of 3 failure modes of a monolithic fetal pacemaker, including primary positioning failure due to device length and secondary dislodgement failure due to somatic growth. The small variation of the measurements over the gestational age range relevant to device implantation for the major indications of the device (for complete heart block complicated by hydrops and for bradycardia risk after fetal surgery or intrauterine intervention) predicts a small likelihood of these failure modes.

Copyright 2005 by Excerpta Medica Inc.
(Am J Cardiol 2005;95:1267–1270)

Share Button
More