De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease

Abstract Background Pediatric patients with genetic disorders have a higher incidence of pulmonary arterial hypertension (PAH) regardless of their heart defects. Filamin A (FLNA) mutation is recently recognized to be associated with pediatric pulmonary disorders, however, the clinical courses of PAH related to the mutation were reported in limited cases. Here, we presented a case and pooled data for better understanding of the correlation between FLNA mutation and pediatric PAH. Case presentation The patient was a 8-month-old female with repeated episodes of pneumonia. Physical examination revealed cleft lip, cleft palate and developmental retardation. Imaging examination showed a small atrial septal defect (ASD), central pulmonary artery enlargement, left upper lobe of lung atelectasis, and pulmonary infiltration. Genetic test showed she carried a de novo pathogenic variant of FLNA gene (c.5417-1G > A, p.-). Oral medications didn’t slow the progression of PAH in the patient, and she died two years later. Conclusions FLNA mutation causes rare but progressive PAH in addition to a wide spectrum of congenital heart disease and other comorbidities in pediatric patients. We highly recommend genetic testing for pediatric patients when suspected with PAH. Given the high mortality in this group, lung transplantation may offer a better outcome.

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FISH spots microdeletion in heart defects

Microscopy and Microanalysis ◽

10.1017/s1431927609990481 ◽

2009 ◽

Vol 15 (S3) ◽

pp. 5-6

Author(s):

P. Ferraz-Gameiro ◽

J. Ferrão ◽

C. Mendes ◽

L. M. Pires ◽

E. Matoso ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

De Novo ◽

Heart Defects ◽

Autosomal Dominant Trait ◽

Conotruncal Malformations ◽

Wide Range ◽

22Q11.2 Microdeletion ◽

Made In

AbstractThe 22q11.2 microdeletion is found in most of DiGeorge and velocardiofacial syndromes. These individuals have a wide range of anomalies including congenital heart disease, palatal abnormalities, characteristic facial features, hypocalcaemia, immune deficiency, and learning difficulties. Congenital heart disease, particularly conotruncal malformations are associated with 29% of deletions. This syndrome may be inherited as an autosomal dominant trait, but the majority of patients (93%) have a de novo deletion. To access the presence of the microdeletion in those individuals whose phenotipic changes suggested abnormalities in chromosome 22, a study has been made in several children with congenital heart defects.

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Jacobsenov sindrom

Slovenian Medical Journal ◽

10.6016/zdravvestn.1277 ◽

2015 ◽

Vol 84 (11) ◽

Author(s):

Milena Treiber ◽

Tanja Dukić Vuković ◽

Veronika Kropivšek

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Chromosome 11 ◽

Partial Deletion ◽

Jacobsen Syndrome ◽

Carrier Mother

Jacobsen syndrome is a gene syndrome caused by partial deletion of the long arm of chromosome 11.About 20% of children die during the first two years of life, most commonly realated to complications from congenital heart disease, less commonly from bleeding.The authors present a male newborn that inhereted unbalanced deletion from a carrier mother.

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Genomic analyses implicate noncoding de novo variants in congenital heart disease

Nature Genetics ◽

10.1038/s41588-020-0652-z ◽

2020 ◽

Vol 52 (8) ◽

pp. 769-777 ◽

Cited By ~ 4

Author(s):

Felix Richter ◽

Sarah U. Morton ◽

Seong Won Kim ◽

Alexander Kitaygorodsky ◽

Lauren K. Wasson ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

De Novo ◽

Genomic Analyses

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Faculty Opinions recommendation of De novo mutations in histone-modifying genes in congenital heart disease.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718019515.793478512 ◽

2013 ◽

Author(s):

Sue Malcolm

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

De Novo ◽

De Novo Mutations ◽

Modifying Genes

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Faculty Opinions recommendation of De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.726085849.793532726 ◽

2017 ◽

Author(s):

David Brook

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Anomalies ◽

Congenital Heart ◽

De Novo ◽

De Novo Mutations

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Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease

Cerebral Cortex ◽

10.1093/cercor/bhz101 ◽

2019 ◽

Vol 30 (2) ◽

pp. 476-487 ◽

Cited By ~ 3

Author(s):

Sarah U Morton ◽

Lara Maleyeff ◽

David Wypij ◽

Hyuk Jin Yun ◽

Jane W Newburger ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Pattern Analysis ◽

De Novo ◽

Neurodevelopmental Outcomes ◽

Parietal Lobes ◽

Pattern Similarity ◽

Neurodevelopmental Abnormalities ◽

Sulcal Pattern

AbstractNeurodevelopmental abnormalities are the most common noncardiac complications in patients with congenital heart disease (CHD). Prenatal brain abnormalities may be due to reduced oxygenation, genetic factors, or less commonly, teratogens. Understanding the contribution of these factors is essential to improve outcomes. Because primary sulcal patterns are prenatally determined and under strong genetic control, we hypothesized that they are influenced by genetic variants in CHD. In this study, we reveal significant alterations in sulcal patterns among subjects with single ventricle CHD (n = 115, 14.7 ± 2.9 years [mean ± standard deviation]) compared with controls (n = 45, 15.5 ± 2.4 years) using a graph-based pattern-analysis technique. Among patients with CHD, the left hemisphere demonstrated decreased sulcal pattern similarity to controls in the left temporal and parietal lobes, as well as the bilateral frontal lobes. Temporal and parietal lobes demonstrated an abnormally asymmetric left–right pattern of sulcal basin area in CHD subjects. Sulcal pattern similarity to control was positively correlated with working memory, processing speed, and executive function. Exome analysis identified damaging de novo variants only in CHD subjects with more atypical sulcal patterns. Together, these findings suggest that sulcal pattern analysis may be useful in characterizing genetically influenced, atypical early brain development and neurodevelopmental risk in subjects with CHD.

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