scholarly journals A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Kiichi Takahashi ◽  
Hiroyuki Adachi ◽  
Manatomo Toyono ◽  
Masato Ito ◽  
Akie Kato ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Renal Cysts ◽  
Ventricular Septal Defects ◽  
Autosomal Dominant Disorder ◽  
Septal Defects ◽  
Pathogenic Variants

Genitopatellar syndrome (GPS) is a rare autosomal dominant disorder caused by de novo pathogenic variants in the KAT6B gene. It is characterized by genital abnormalities, patellar hypoplasia/agenesis, flexion contractures of the hips and knees, corpus callosum agenesis with microcephaly, and hydronephrosis and/or multiple renal cysts. More than half of patients with GPS have congenital heart defects, mostly atrial and/or ventricular septal defects, patent foramen ovale, and patent ductus arteriosus. We report a case of a Japanese neonate with a de novo heterozygous c.3769_3772delTCTA pathogenic variant in the KAT6B gene who presented with a cardiac intramural cavity of the ventricular septum at birth. The cavity unexpectedly disappeared at 1 month of age, but trabecular septal thinning and flash remained. The features of the cavity were not consistent with those of congenital ventricular diverticulum or aneurysm, and its identity and prognosis are still unclear. Because patients with GPS may exhibit various forms of cardiac malformation, careful cardiac examination and follow-up are required from birth in cases of suspected GPS.

scholarly journals A Classification System and Treatment Guidelines for PAH Associated with Congenital Heart Disease

2006 ◽  
Vol 5 (2) ◽  
pp. 31-35 ◽  
Author(s):  
Maurice Beghetti
Keyword(s):  
Congenital Malformations ◽  
Congenital Heart ◽  
Treatment Guidelines ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Ventricular Septal Defects ◽  
Live Births ◽  
Septal Defects ◽  
Great Vessels

Congenital heart defects are among the most common congenital malformations at birth, with an incidence of approximately 8/1000 live births. These defects are characterized by a heterogeneous group of abnormal communications and connections between the cardiac chambers and great vessels with different hemodynamic consequences and hence, varying need for follow-up and interventions. The most common forms are congenital cardiac systemic to pulmonary shunts (ie, ventricular septal defects, atrial septal defects, patent ductus arteriosus) that account for almost 60 % of congenital cardiac malformations.

scholarly journals Isolated Left Subclavian Artery, Multiple Ventricular Septal Defects and Pulmonary Hypertension In A Child: A Case Report

2021 ◽  
Author(s):  
Mohammadreza Khalilian ◽  
Manouchehr Hekmat ◽  
Saeed Sadr ◽  
Abdolhossein Tavallai-Zavvareh ◽  
Tahmineh Tahouri
Keyword(s):  
Pulmonary Hypertension ◽  
Aortic Arch ◽  
Subclavian Artery ◽  
Left Subclavian Artery ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Subclavian Steal Syndrome ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Steal Syndrome

Abstract solated left subclavian artery is a rare congenital aortic arch anomaly in which the left subclavian artery is connected to the pulmonary artery via a patent Ductus Arteriosus or a remnant of it, instead of the arota. Generally, it is associated with the right aortic arch and other congenital heart defects, mostly tetralogy of Fallot. Isolated left subclavian artery can cause subclavian steal syndrome, pulmonary steal syndrome and size or blood pressure discrepancy between the two upper limbs. We present a 14-months-old infant with isolated left subclavian artery, multiple ventricular septal defects and pulmonary hypertension. To our knowledge, it is a rare anomaly which can influence the surgical planning and outcomes.

Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome

2021 ◽  
pp. 1-5
Author(s):  
Hiroaki Murakami ◽  
Tomoko Uehara ◽  
Yumi Enomoto ◽  
Naoto Nishimura ◽  
Tatsuro Kumaki ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Disorder ◽  
Immune Systems ◽  
Ocular Manifestations ◽  
Pathogenic Variants ◽  
Persistent Hyperplastic Primary Vitreous ◽  
Clinical Presentations ◽  
The Brain

Okur-Chung neurodevelopmental syndrome is a rare autosomal dominant disorder caused by pathogenic variants in <i>CSNK2A1</i>, which encodes the alpha 1 catalytic subunit of ­casein kinase II. This syndrome is characterized by intellectual disability, developmental delay, and multisystemic ­abnormalities including those of the brain, extremities, and skin as well as cardiovascular, gastrointestinal, and immune systems. In this study, we describe a 5-year-old boy with a de novo novel nonsense variant in <i>CSNK2A1</i>, NM_001895.3:c.319C&#x3e;T (p.Arg107*). He showed bilateral persistent hyperplastic primary vitreous with microphthalmia, lens dysplasia, and coloboma. Ocular manifestations are very rare in this syndrome, and this study expands the spectrum of the clinical presentations of this syndrome.

Novel use of Konar-multifunctional occluder

2020 ◽  
Vol 30 (11) ◽  
pp. 1722-1727
Author(s):  
Aritra Mukherji ◽  
Amitabha Chattopadhyay ◽  
Sanjiban Ghosh ◽  
Soumya Kanti Mohapatra ◽  
Arnab De ◽  
...  
Keyword(s):  
Ductus Arteriosus ◽  
Ventricular Septal Defects ◽  
Novel Device ◽  
Septal Defects ◽  
Procedural Approach ◽  
Cardiac Lesions ◽  
Procedural Success ◽  
Venous Fistula ◽  
Underlying Pathology

AbstractIntroduction:Lifetech Konar-multifunctional occluder is a novel device which is primarily used for the closure of ventricular septal defects. Being “multifunctional”, the occluder has the potential to be useful in various structural cardiac defects.Materials and methods:We share our retrospective review from two centres regarding non-conventional usage of multifunctional occluders in CHD. Eight patients who underwent interventions using multifunctional occluders for lesions other than ventricular septal defects between March 2019 to September 2019 were included in the study. The patients were analysed based on demography, the size and type of lesion, procedural success, and development of complications. All patients were followed up in the outpatient department for a minimum period of 6 months.Results:The median age and weight of the cohort were 3.2 years and 9 kg, respectively. Six patients had patent ductus arteriosus, while one patient had aorto-pulmonary window and one had a coronary arterio-venous fistula. The sizing of the occluders and the procedural approach were based on the underlying pathology. The most commonly used occluder was 6 × 4 mm variant. One patient had successful implantation but had significant intra-device residual flow and was thus replaced by a different occluder. There were no major complications, nor any incidences of device embolisation or malposition. On follow-up, all patients had uneventful course.Conclusion:Konar-multifunctional occluder can be safely used in lesions other than ventricular septal defects, when needed under specific circumstances. Its unique characteristics make it a versatile choice in a variety of cardiac lesions.

scholarly journals First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD)

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Sumbal Sarwar ◽  
Farah Ehsan ◽  
Shabana ◽  
Amna Tahir ◽  
Mahrukh Jamil ◽  
...  
Keyword(s):  
Heart Development ◽  
Heart Defects ◽  
Demographic Data ◽  
Gene Variant ◽  
Nucleotide Polymorphisms ◽  
Ventricular Septal Defects ◽  
First Report ◽  
Number Of Children ◽  
Septal Defects ◽  
Genotype Frequencies

Abstract Background Ventricular septal defects (VSDs) are malformations in the septum separating the heart’s ventricles. VSDs may present as a single anomaly (isolated/nonsyndromic VSD) or as part of a group of phenotypes (syndromic VSD). The exact location of the defect is crucial in linking the defect to the underlying genetic cause. The number of children visiting cardiac surgery units is constantly increasing. However, there are no representative data available on the genetics of VSDs in Pakistani children. Methods Two hundred forty-two subjects (121 VSD children and 121 healthy controls) were recruited from pediatric cardiac units of Lahore. The clinical and demographic data of the subjects were collected. A total of four SNPs, one each from MTRR, GATA4, VEGF, and ISL1 genes were genotyped by PCR-RFLP. Results The results showed that the minor allele (T) frequency (MAFs) for the MTRR gene variant rs1532268 (c.524C > T) was 0.20 and 0.41 in the controls and the cases, respectively, with the genotype frequencies 3, 35, 62% in the controls and 12, 59 and 29% in the cases for TT, CT, CC genotypes, respectively (allelic OR: 5.73, CI: 3.82–8.61, p-value: 5.11 × 10− 7). For the GATA4 variant rs104894073 (c.886G > A), the MAF for the controls and the cases was 0.16 and 0.37, respectively, the frequencies of AA, GA and GG genotypes were 2, 28, and 70% in the controls and 5, 64 and 31% of the cases (allelic OR: 3.08, CI: 2.00–4.74, p-value: 8.36 × 10− 8). The rs699947 (c.-2578C > A) of VEGF gene showed MAF 0.36 and 0.53 for the controls and cases, respectively, with the genotype frequencies 13, 42, and 45% in the controls and 22, 15, and 63% in the cases for the AA, CA, CC (allelic OR: 2.03, CI: 1.41–2.92, p-value: 0.0001). The ISL1 gene variant rs6867206 (g.51356860 T > C), the MAFs were 0.26 and 0.31 in the controls and cases, respectively. The genotype frequencies were 48, 52, 0% in the controls and 39, 61, 0% in the cases for TT, TC, CC genotypes (allelic OR: 0.27, CI: 0.85–1.89, p-value: 0.227). The MTRR, GATA4 and VEGF variants showed association while ISL1 variant did not appear to be associated with the VSD in the recruited cohort. Conclusion This first report in Pakistani children demonstrates that single nucleotide polymorphisms in genes encoding transcription factors, signaling molecules and structural heart genes involved in fetal heart development are associated with developmental heart defects., however further work is needed to validate the results of the current investigation.

scholarly journals Prenatal Sonographic Features of CHARGE Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 415
Author(s):  
Kuntharee Traisrisilp ◽  
Wisit Chankhunaphas ◽  
Rekwan Sittiwangkul ◽  
Chureerat Phokaew ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
De Novo ◽  
Heart Defects ◽  
Molecular Genetic ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Acoustic Stimulation ◽  
Genetic Mutation ◽  
Suspected Case ◽  
Autosomal Dominant Disorder ◽  
Canal Stenosis

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

Increased Prevalence of Ventricular Septal Defect: Epidemic or Improved Diagnosis

PEDIATRICS ◽  
1989 ◽  
Vol 83 (2) ◽  
pp. 200-203
Author(s):  
Gerard R. Martin ◽  
Lowell W. Perry ◽  
Charlotte Ferencz
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Coarctation Of The Aorta ◽  
Cardiovascular Malformations ◽  
Ventricular Septal Defects ◽  
Live Births ◽  
Septal Defects ◽  
Clinical Diagnoses ◽  
Control Study

The Baltimore-Washington Infant Study is an ongoing case-control study of congenital cardiovascular malformations in infants in whom the clinical diagnoses have been confirmed by echocardiography, catheterization, surgery, or autopsy. An increase in the prevalence of ventricular septal defects was detected in 1,494 infants with congenital cardiovascular malformations between 1981 and 1984. The prevalence of congenital cardiovascular malformations increased from 3.6 to 4.5 per 1,000 live births (P&lt;.025) and the prevalence of ventricular septal defect increased from 1.0 to 1.6 per 1,000 live births (P&lt; .001). The increase in ventricular septal defects accounted for the total increase in congenital cardiovascular malformations. The prevalence of isolated ventricular septal defect increased from 0.67 to 1.17 per 1,000 live births (P&lt;.001). The prevalence of ventricular septal defect with associated coarctation of the aorta, patent ductus arteriosus, atrial septal defect, and pulmonic stenosis did not change. The prevalence of ventricular septal defect diagnosed by catheterization, surgery, and autopsy did not change; however, defects diagnosed by echocardiography increased from 0.30 to 0.70 per 1,000 live births (P&lt;.001). It is concluded that the reported increase in prevalence of ventricular septal defect is due to improved detection of small, isolated ventricular septal defects and that there is no evidence of an "epidemic."

Progressive Diaphyseal Dysplasia: Genetics and Clinical and Radiologic Manifestations

PEDIATRICS ◽  
1984 ◽  
Vol 74 (3) ◽  
pp. 399-405
Author(s):  
Yehezkel Naveh ◽  
Joseph K. Kaftori ◽  
Uri Alon ◽  
Jacob Ben-David ◽  
Moshe Berant
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Generation Family ◽  
Progressive Diaphyseal Dysplasia ◽  
Radiographic Screening ◽  
Osteosclerotic Dysplasia ◽  
Structural Deformity ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.

scholarly journals Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

2019 ◽  
Vol 45 (1) ◽  
Author(s):  
Carlotta Spagnoli ◽  
Susanna Rizzi ◽  
Grazia Gabriella Salerno ◽  
Daniele Frattini ◽  
Carlo Fusco
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Current Knowledge ◽  
Brain Mri ◽  
Early Adulthood ◽  
Cerebellar Atrophy ◽  
Mild Intellectual Disability ◽  
Long Term Follow Up

Abstract Background Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. Case presentation We report the long-term follow-up of a 19 years-old boy first evaluated at 18 months of age because of toe walking and unstable gait with frequent falls. He developed speech delay, mild intellectual disability, a slowly progressive pyramidal syndrome, microcephaly, bilateral optic subatrophy and a sensory axonal polyneuropathy. Brain MRI showed cerebellar atrophy, stable along serial evaluations (last performed at 18 years of age). Targeted NGS sequencing disclosed the de novo c.914C > T missense, likely pathogenic variant on KIF1A gene. Conclusions We report on a previously unpublished de novo heterozygous likely pathogenic KIF1A variant associated with slowly progressive complicated SPG30 and stable cerebellar atrophy on long-term follow-up, adding to current knowledge on this HSP subtype.

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