scholarly journals Harlequin Ichthyosis (HI) Associated with Atrial Septal Defect (ASD) and Choanal Atresia

2020 ◽  
Vol 12 (3) ◽  
pp. 97-99
Author(s):  
Nitika S. Deshmukh ◽  
Anil Gosavi ◽  
Ravindranath B. Chavan ◽  
Vasudha A. Belgaumkar
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Heart Diseases ◽  
Choanal Atresia ◽  
Autosomal Recessive Inheritance ◽  
Severe Form ◽  
Complete Evaluation ◽  
Congenital Ichthyosis ◽  
2D Echocardiography ◽  
Harlequin Ichthyosis

Abstract Harlequin ichthyosis (HI) is a severe form of congenital ichthyosis with autosomal recessive inheritance. Incidence of harlequin ichthyosis is 1 in 3,00,000 live births. We report a case of HI associated with bilateral choanal atresia and atrial septal defects, which is a rare association in this skin disorder. A-month-old preterm male baby born out of consanguineous marriage presented with features of armour-like scales and erythema all over body, ectropion, eclabium and fissures over flexures. The patient was born with a colloidion membrane at birth. The baby was operated for bilateral choanal atresia soon after birth because he developed cyanosis upon breast feeding which improved on crying. Upon flexible nasal endoscopy, diagnosis of membranous type of choanal atresia was confirmed by ENT (ear, nose, throat) surgeon. Heart auscultation revealed a murmur in our patient. Electrocardiogram and 2D Echocardiography was reported as atrial septal defect (4.5 mm OsASD). The patient was started on acitretin (1 mg/kg/day) and emollients after complete evaluation and is currently on regular follow up. Harlequin ichthyosis is linked to mutation of ABCA12 gene. It is often associated with eclabium, ectropion, hypoplastic nose, ears and fingers. Congenital heart diseases are rarely reported with HI in literature. This makes it mandatory to screen HI patients for internal defects.

scholarly journals Novel Mutationsin the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Irma Eloisa Monroy-Muñoz ◽  
Nonanzit Pérez-Hernández ◽  
José Manuel Rodríguez-Pérez ◽  
José Esteban Muñoz-Medina ◽  
Javier Angeles-Martínez ◽  
...  
Keyword(s):  
Atrial Septal Defect ◽  
Genetic Screening ◽  
Heart Development ◽  
Septal Defect ◽  
High Resolution Melting ◽  
Heart Diseases ◽  
Transcriptional Activator ◽  
Missense Mutations ◽  
T Box

Background. The relevance ofTBX20gene in heart development has been demonstrated in many animal models, but there are few works that try to elucidate the effect ofTBX20mutations in human congenital heart diseases. In these studies, all missense mutations associated with atrial septal defect (ASD) were found in the DNA-binding T-box domain, none in the transcriptional activator domain.Methods. We search forTBX20mutations in a group of patients with ASD or ventricular septal defect (VSD) using the High Resolution Melting (HRM) method and DNA sequencing.Results. We report three missense mutations (Y309D, T370O, and M395R) within the transcriptional activator domain of human TBX20 that were associated with ASD.Conclusions. This is the first association of TBX20 transcriptional activator domain missense mutations with ASD. These findings could have implications for diagnosis, genetic screening, and patient follow-up.

scholarly journals Effectual Physiotherapy Treatment in a 16 Year Old Case of Atrial Septal Defect- A Single Case Study

2021 ◽  
pp. 161-165
Author(s):  
Shreya Daga ◽  
Rashmi Walke ◽  
Pallavi R. Bhakaney ◽  
. Vishnuvardhan ◽  
Ruhi Kumbhare ◽  
...  
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Single Case ◽  
Functional Independence ◽  
Atrial Septal Defect Closure ◽  
2D Echocardiography ◽  
Program Outcome ◽  
Included Patient ◽  
And Performance

Background: Paediatric cardiac surgeries have an immense survival rate and rehabilitation plays a major role in such cases. Many patients are diagnosed with septal defects or valve defects at birth which come sunder cardiac surgeries. Case Presentation: This is a case of 16 year old boy who had atrial septal defect and underwent atrial septal defect closure. Investigations: 2D echocardiography revealed atrial septal defect. Management: Physiotherapy intervention included patient education, breathing retraining, airway clearance techniques, positioning, and psychological support and mobility program. Outcome measures have shown enhancement in functional independence and performance of activities of daily living. Conclusion: The evidence from this study suggest that paediatric cardiac rehabilitation found to play a pivotal role in managing a patient who had atrial septal defect.

scholarly journals Tricuspid Valve Dilation in a Case of Ostium Secundum Atrial Septal Defect: Therapeutic Dilemmas in the Perioperative Period and a Call for Building the Evidence

2013 ◽  
Vol 1 (1) ◽  
pp. 24-26
Author(s):  
H Singh ◽  
J Sethumadhavan ◽  
A Jayant
Keyword(s):  
Heart Disease ◽  
Atrial Septal Defect ◽  
Tricuspid Valve ◽  
Septal Defect ◽  
Heart Diseases ◽  
Perioperative Period ◽  
Female Child ◽  
Tricuspid Valve Repair ◽  
Secundum Atrial Septal Defect ◽  
Residual Defect

ABSTRACT The adult literature on managing tricuspid regurgitation (TR) in left heart disease is in evolution. Tricuspid valve repair in pediatrics, on the other hand has more or less been restricted to disease subsets, such as children developing TR secondary to right ventricular disease or tricuspid valve anomalies. The pediatric literature on ‘acquired’ TR [as in congenital heart diseases, such as atrial septal defect (ASD)] is sparse. Some of the concerns that need to be addressed are thresholds for intervention, optimal annular reduction and methods of surgical reduction (DeVega vs ring annuloplasty). We present a case of a 5 years old female child who primarily presented for closure of her ostium secundum ASD. However, intraoperative transesophageal echocardiography (TEE) revealed TR and a tricuspid annular dimension beyond z +3 for her size. The surgeon chose to perform a DeVega annuloplasty and both the ASD closure and the annuloplasty were uneventful, postoperative TEE revealed no residual defect, no TR or stenosis. We seek to highlight this case in order to urge a more systematic study of such patients with a local focus since patients in our country present later than usual with asymptomatic heart disease and are more likely to undergo progressive right heart enlargement for a given shunt. How to cite this article Sethumadhavan J, Singh H, Jayant A. Tricuspid Valve Dilation in a Case of Ostium Secundum Atrial Septal Defect: Therapeutic Dilemmas in the Perioperative Period and a Call for Building the Evidence. J Perioper Echocardiogr 2013;1(1):24-26.

scholarly journals Atrial Septal Defect (ASD) and Associated Cardiovascular Disorders in Patients Undergoing Surgical Repair

2017 ◽  
Vol 7 (1) ◽  
pp. 18-21
Author(s):  
Ratna Rani Roy ◽  
Nilima Barman ◽  
Abdullah Al Foysal ◽  
PK Saha ◽  
Khondker Manzare Shamim
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Surgical Repair ◽  
Heart Diseases ◽  
Cardiovascular Disorders ◽  
Cross Sectional ◽  
Septal Defects ◽  
Study Population ◽  
National Heart Foundation ◽  
Heart Foundation

Background: Congenital heart diseases (CHD) are one of the most common developmental errors in humans.Objectives: The purpose of the present study was to see the frequencies of various types of atrial septal defect (ASD) and associated cardiovascular disorders in patients undergoing surgical repair.Methodology: This cross-sectional descriptive study was conducted on patients undergoing surgical repair at the National Institute of Cardiovascular Diseases (NICVD) and National Heart Foundation and Research Institute (NHF&RI) in Dhaka during the period of July, 2010 to June, 2011. Patients presented with ASD at any age of both sexes were selected as study population. Diagnoses were revealed with echocardiography and confirmed preoperatively by registered cardiac surgeons.Results: The morphological types of ASD were Ostium secundum type in 96% cases and sinus venosus type in 4% cases. Atrial septal defects were either small or larger defects associated with pulmonary hypertension in 38(76%) cases, varying degree of tricuspid regurgitation was seen in 33(66%) patients and dilated pulmonary artery was noted in 24(48%) cases. Ventricular septal defect in 4(8%) cases, tricuspid atresia in 2(4%) cases and mitral valve prolapse in 6(12%) cases were also observed.Conclusions: Ostium secundum type of ASD is found to be the commonest type of ASD.J Shaheed Suhrawardy Med Coll, 2015; 7(1):18-21

scholarly journals Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Francesco Baldo ◽  
Michela Brena ◽  
Simone Carbogno ◽  
Francesca Minoia ◽  
Stefani Lanni ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Severe Form ◽  
Chronic Arthritis ◽  
Case Presentation ◽  
Congenital Ichthyosis ◽  
Rare Combination ◽  
Heterogenous Group ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Harlequin Ichthyosis ◽  
Specific Manifestation

Abstract Background Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of chronic arthritis. Association of HI and chronic arthritis has been reported in few cases. Case presentation We report the case of a child with HI who developed a severe form of chronic polyarthritis during the first years of life, treated with repeated multiple joint injections, methotrexate and etanercept with good response and without any adverse events. Conclusion The reported case and the literature review highlighted the presence of a peculiar severe seronegative polyarthritis with early onset in a series of patients with HI, suggesting that polyarthritis may be a specific manifestation of HI, rather than a rare combination of two separate conditions.

scholarly journals A RARE CASE OF HARLEQUIN ICHTHYOSIS SUCCESSFULLY TREATED WITH ACITRETIN: A CASE REPORT AND LITERATURE REVIEW

2021 ◽  
Vol 9 (11) ◽  
pp. 498-502
Author(s):  
Mashael Abdulghani Taj ◽  
◽  
Imtinan Abdulaziz Alharbi ◽  
Lein Walid Azzhary ◽  
Renad Ghazi Alhazmi ◽  
...  
Keyword(s):  
Rare Case ◽  
Skin Condition ◽  
Severe Form ◽  
Interdisciplinary Therapy ◽  
Congenital Ichthyosis ◽  
Collodion Baby ◽  
Harlequin Ichthyosis ◽  
Impact On Survival ◽  
Homozygous Mutations ◽  
Dry Out

Harlequin Ichthyosis is the most serious congenital keratinization disorder. When the children are born, they are enveloped in thick horn armor. They are thick yellow horn plates that tear deeply when they dry out. In the most severe form, the children often die in the first few weeks of life. But there are also many milder courses, whereby there are obviously flowing transitions from collodion baby to harlequin ichthyosis. The skin condition later corresponds to that of a child with severe congenital ichthyosis (ARCI). Similar to the collodion baby, cases of harlequin ichthyosis should initially be cared for in the intensive care unit for newborns and require interdisciplinary therapy. Harlequin ichthyosis is caused by very special mutations in the ABCA12 gene. These mutations also have an impact on survival. If homozygous mutations are present, the prospects are worse than if the parents have heterozygous mutations. Homozygous mutations are often present when the parents are consanguineous.

P1801Multiple members with an isolated atrial septal defect phenomenon presented in a family with Holt-Oram syndrome

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
K Si ◽  
H N Liu ◽  
C Sun ◽  
Z Zheng
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Heart Diseases ◽  
Cardiac Conduction ◽  
Cardiac Anomaly ◽  
Monoallelic Expression ◽  
Normal Person ◽  
Single Nucleotide Variants ◽  
Limb Deformity ◽  
Single Nucleotide

Abstract Background Holt-Oram syndrome (HOS), characterized by upper limb malformations, congenital heart diseases (CHD) and/or cardiac conduction abnormalities, is an autosomal dominant disease. Almost all the HOS patients suffer from cardiac and limb abnormalities at the same time. Among them, atrial septal defect (ASD) is the most common cardiac anomaly. The unusual phenotype in a pedigree including multiple members with isolated ASD and a few with isolated limb deformity attracted attention. Aim To detect mutant genes of ASD in this pedigree and make a definitive diagnosis. To investigate the mutant type of the gene and illustrate the possible mechanism of heterogeneous phenotype. Methods Echocardiography, electrocardiography and physical examination were given to a four-generation Chinese HOS family. Of all 11 patients in this pedigree, eight patients had isolated ASD and one patient had isolated finger deformity. In addition, two patients suffered from both diseases (Figure. 1). Whole Exome Sequencing was performed on the proband and his relatives including three with ASD only, one with finger deformity only and one normal person. Sanger sequencing was performed on biological relatives in this pedigree to valid rare variants. Single nucleotide polymorphisms and insertions/deletions were identified using the GATK program. Pathogenicity was predicted in software like SIFT, Ployphen-2, MutationTaster and CADD_phred. Results An exon site mutation (c.100dupG:p.Ala34fs) of TBX5 was detected in all the patients of this pedigree. This mutation site is located in front of T-box and most probably leads to haploinsufficiency of TBX5 protein. In addition, only 42 variants (1 splicing single nucleotide variants (SNV), 15 insertions/deletions, 24 nonsynonymous SNVs, 1 stopgain SNVs and 1 unknown) were found in 29 genes, which are related to cardiac disease. Figure 1 Conclusions Our study revealed a mutation (c.100dupG:p.Ala34fs) of TBX5 and further demonstrated the possibility of HOS-related TBX5 mutation in patients with congenital ASD only. This study clarified the diagnosis of this pedigree, provided genetic counseling and promoted the prevention and treatment of HOS. Further research is needed on mechanisms that may lead to phenotypic variation between and within families, such as random monoallelic expression. Acknowledgement/Funding None

scholarly journals Transcatheter Closure of Atrial Septal Defect with Amplatzer Device in Adolescence and Adults: Short Term Results: MCVTC Experience

2020 ◽  
Vol 5 (2) ◽  
Keyword(s):  
Atrial Septal Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Transcatheter Closure ◽  
Heart Diseases ◽  
Device Closure ◽  
Short Term ◽  
Amplatzer Device ◽  
Invasive Cardiology

Introduction: Atrial septal defect (ASD) is one of the common congenital heart diseases accounting for 8% to 10% of total congenital heart disease at birth and one of the most common diseases in adulthood. Ostium Secundum (OS) ASD has been successfully closed surgically for over several decades. But even though the results are better, it is associated with discomfort, morbidity, and a thoracotomy scar. Transcatheter closure in these patients has advanced rapidly in recent years and represents a growing field in invasive cardiology. Methods: This prospective study was conducted at Manmohan cardiothoracic vascular and transplant center, Maharajgung, Kathmandu, Nepal. Fifty-two (52) patients with a diagnosis of OS ASD assessed for device closure. Patients underwent transthoracic and trans oesophageal echocardiography for the defect location, size, number, and associated anomalies. All patients with OS ASD fulfilling the inclusion criteria enrolled for device closure. The procedure conducted under fluoroscopy and transesophageal guidance. The cases were followed up at 3 and 6 months, reassessed clinically and by echocardiography for any complications. Results: The patients with ASD who enrolled in this study belonged to the age group of 14 to 63 years. The device closure attempted in 46 patients, and the remaining six patients excluded from the procedure due to unsuitable anatomy after GA guided TEE done. Among 46 patients, 44 (95%) had successful device closure. The mean age of the patient was 35.7+ 10 and 33 (71.7%) female, with 13 (28.3%) males. Conclusions: The transcatheter device closure of ASD in adolescents and adults has a high success rate with fewer complications and found to be safely documented during immediate and short term follow up. However, long terms follow up is required to conclude it.

scholarly journals Juvenile Idiopathic Arthritis in Harlequin Ichthyosis, a Rare Combination or the Clinical Spectrum of the Disease? Report of a Child Treated With Etanercept and Review of the Literature 

2020 ◽  
Author(s):  
Francesco Baldo ◽  
Michela Brena ◽  
Simone Carbogno ◽  
Francesca Minoia ◽  
Stefani Lanni ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Clinical Manifestation ◽  
Severe Form ◽  
Chronic Arthritis ◽  
Review Of The Literature ◽  
Congenital Ichthyosis ◽  
Rare Combination ◽  
Heterogenous Group ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Harlequin Ichthyosis

Abstract Background. Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of chronic arthritis. Association of HI and chronic arthritis has been reported in few cases. Case presentation. We report the case of a child HI who developed a severe form of chronic polyarthritis during the first years of life, treated with repeated multiple joint injections, methotrexate and etanercept with good response and any adverse events. Conclusion. The case reported, followed by a review of the literature, could suggest the possibility that the presence of this peculiar severe polyarthritis with early onset and FR / ANA negativity, could be part of the clinical manifestation of Harlequin Ichthyosis instead that a rare combination of two diseases as reported by previous papers.

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