Dataset Information

A Neonate with an Unusual Midline Defect and Cardiovascular Anomaly.

ABSTRACT: We present a female neonate with a sternal cleft (SC) and additional aortic aneurysm who presented with respiratory failure. Stabilization of the SC was achieved by using the xyphoid process as an autologous graft bridging the upper part of the SC. We conclude that a step-wise correction of the SC with the use of an autologous graft may improve respiratory function, and should be considered when complete surgical correction is not feasible.

SUBMITTER: Poryo M

PROVIDER: S-EPMC5786149 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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A Neonate with an Unusual Midline Defect and Cardiovascular Anomaly.

Poryo Martin M Hoffmann Paul P Schäfers Hans-Joachim HJ Meier Clemens-Magnus CM Altmeyer Katrin K Abdul-Khaliq Hashim H Zemlin Michael M Meyer Sascha S

European journal of pediatric surgery reports 20180122 1

We present a female neonate with a sternal cleft (SC) and additional aortic aneurysm who presented with respiratory failure. Stabilization of the SC was achieved by using the xyphoid process as an autologous graft bridging the upper part of the SC. We conclude that a step-wise correction of the SC with the use of an autologous graft may improve respiratory function, and should be considered when complete surgical correction is not feasible. ...[more]

PMID: 29379702

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Project description:To report a new phenotype caused by mutations in the CRB1 gene in a family with 2 affected siblings.Molecular genetics and observational case studies.Two affected siblings and 3 unaffected family members.Each subject received a complete ophthalmic examination together with color fundus photography, fundus autofluorescence (FAF), and spectral-domain optical coherence tomography (SD-OCT). Microperimetry 1 (MP-1) mapping and electroretinogram (ERG) analysis were performed on the proband. Screening for disease-causing mutations was performed by whole exome sequencing in 3 family members followed by segregation analyses in the entire family.Appearance of the macula as examined by clinical examination, fundus photography, FAF imaging, SD-OCT, and visual function by MP-1 and ERG.The proband and her affected brother exhibited unusual, previously unreported, findings of a macular dystrophy with relative sparing of the retinal periphery beyond the vascular arcades. The FAF imaging showed severely affected areas of hypoautofluorescence that extended nasally beyond the optic disc in both eyes. A central macular patch of retinal pigment epithelium (RPE) sparing was evident in both eyes on FAF, whereas photoreceptor sparing was documented in the right eye only using SD-OCT. The affected brother presented with irregular patterns of autofluorescence in both eyes characterized by concentric rings of alternating hyper- and hypoautofluorescence, and foveal sparing of photoreceptors and RPE, as seen on SD-OCT, bilaterally. After negative results in screening for mutations in candidate genes including ABCA4 and PRPH2, DNA from 3 members of the family, including both affected siblings and their mother, was screened by whole exome sequencing resulting in identification of 2 CRB1 missense mutations, c.C3991T:p.R1331C and c.C4142T:p.P1381L, which segregated with the disease in the family. Of the 2, the p.R1331C CRB1 mutation has not been described before and the p.P1381L variant has been described in 1 patient with Leber congenital amaurosis.This report illustrates a novel presentation of a macular dystrophy caused by CRB1 mutations. Both affected siblings exhibited a relatively well-developed retinal structure and preservation of generalized retinal function. An unusual 5-year progression of macular atrophy alone was observed that has not been described in any other CRB1-associated phenotypes.

Project description:BackgroundNeonatal asphyxia caused kidney injury and severe hypertension in a newborn. An unusually dilatated ascending aorta developed. Dialysis and pharmacological treatment led to partial recovery of the ascending aortic diameters. It was hypothesized that the aortic dilatation may be associated with aortic stiffening, peripheral resistance, and cardiovascular changes. Mathematical modeling was used to better understand the potential causes of the hypertension, and to confirm our clinical treatment within the confines of the model's capabilities.MethodsThe patient's systolic arterial blood pressure showed hypertension. Echocardiographic exams showed ascending aorta dilatation during hypertension, which partially normalized upon antihypertensive treatment. To explore the underlying mechanisms of the aortic dilatation and hypertension, an existing lumped parameter hemodynamics model was deployed. Hypertension was simulated using realistic literature informed parameter values. It was also simulated using large parameter perturbations to demonstrate effects. Simulations were designed to permit examination of causal mechanisms. The hypertension inducing effects of aortic stiffnesses, vascular resistances, and cardiac hypertrophy on blood flow and pressure were simulated. Sensitivity analysis was used to stratify causes.ResultsIn agreement with our clinical diagnosis, the model showed that an increase of aortic stiffness followed by augmentation of peripheral resistance are the prime causes of realistic hypertension. Increased left ventricular elastance may also cause hypertension. Ascending aortic pressure and flow increased in the simultaneous presence of left ventricle hypertrophy and augmented small vessel resistance, which indicate a plausible condition for ascending aorta dilatation. In case of realistic hypertension, sensitivity analysis showed that the treatment of both the large vessel stiffness and small vessel resistance are more important in comparison to cardiac hypertrophy.Conclusion and discussionLarge vessel stiffness was found to be the prime factor in arterial hypertension, which confirmed the clinical treatment. Treatment of cardiac hypertrophy appears to provide significant benefit but may be secondary to treatment of large vessel stiffness. The quantitative grading of pathophysiological mechanisms provided by the modeling may contribute to treatment recommendations. The model was limited due to a lack of data suitable to permit model identification.

Dataset Information

A Neonate with an Unusual Midline Defect and Cardiovascular Anomaly.

Publications

A Neonate with an Unusual Midline Defect and Cardiovascular Anomaly.

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