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1.
Pan Afr Med J. 2018 Mar 19;29:160. doi: 10.11604/pamj.2018.29.160.14927. eCollection 2018.

Kartagener's syndrome.

Author information

1
Department of Radiology and Imaging, Santa Casa da Misericórdia of Avaré, Avaré, São Paulo, Brazil.
2
CENTROMED Diagnóstico por Imagem, Avaré, São Paulo, Brazil.
3
Dermatology Division, Department of Medical Clinics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.

KEYWORDS:

Kartagener´s syndrome; dextrocardia; sinusitis

PMID:
30050624
PMCID:
PMC6057558
DOI:
10.11604/pamj.2018.29.160.14927
[Indexed for MEDLINE]
Free PMC Article
Icon for Pan African Medical Journal Icon for PubMed Central
2.
Am J Case Rep. 2018 Apr 18;19:458-461.

Revisiting Atrioventricular Nodal Ablation and Cardiac Pacing of Atrial Fibrillation in a Patient with Dextrocardia.

Author information

1
Department of Internal Medicine, Easton Hospital, Easton, PA, USA.
2
Electrophysiology Lab, Easton Hospital, Easton, PA, USA.

Abstract

BACKGROUND Poorly controlled ventricular rate associated with atrial fibrillation (AF) leads to tachycardia-induced left ventricular dysfunction. Atrioventricular (AV) nodal ablation and cardiac pacing is the standard of care in refractory congestive heart failure (CHF) due to AF with moderate to rapid ventricular response that failed conventional medical therapy. If the patient is not a candidate for AF ablation with pulmonary vein isolation and elimination of AF foci, this is an effective approach, but it does have some challenges when done in a patient with dextrocardia and situs inversus. CASE REPORT Our patient was a 77-year-old woman with dextrocardia and situs inversus, with a history of permanent AF due to severe coronary artery disease (CAD), who suffered from recurrent CHF exacerbations from permanent AF with moderate to rapid ventricular response with underlying hypertensive cardiovascular disease. She was a poor candidate for pulmonary vein isolation because of her permanent AF status and high risk of recurrence. She underwent a technically challenging AV nodal ablation with cardiac pacing due to the complex anatomy, with drastic improvement of symptoms within the next 24 h. CONCLUSIONS AV nodal ablation with cardiac pacing is the standard of care in patients with refractory AF with moderate to rapid ventricular response who have failed medical therapy and are not candidates for pulmonary vein isolation.

PMID:
29666358
PMCID:
PMC5923603
[Indexed for MEDLINE]
Free PMC Article
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3.
Biomed Res Int. 2018 Jan 8;2018:1854269. doi: 10.1155/2018/1854269. eCollection 2018.

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient.

Author information

1
Department of Respiratory Medicine, Diagnosis and Treatment Center of Respiratory Disease, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.

Abstract

Primary ciliary dyskinesia (PCD) is a clinical rare peculiar disorder, mainly featured by respiratory infection, tympanitis, nasosinusitis, and male infertility. Previous study demonstrated it is an autosomal recessive disease and by 2017 almost 40 pathologic genes have been identified. Among them are the leucine-rich repeat- (LRR-) containing 6 (LRRC6) codes for a 463-amino-acid cytoplasmic protein, expressed distinctively in motile cilia cells, including the testis cells and the respiratory epithelial cells. In this study, we applied whole-exome sequencing combined with PCD-known genes filtering to explore the genetic lesion of a PCD patient. A novel compound heterozygous mutation in LRRC6 (c.183T>G/p.N61K; c.179-1G>A) was identified and coseparated in this family. The missense mutation (c.183T>G/p.N61K) may lead to a substitution of asparagine by lysine at position 61 in exon 3 of LRRC6. The splice site mutation (c.179-1G>A) may cause a premature stop codon in exon 4 and decrease the mRNA levels of LRRC6. Both mutations were not present in our 200 local controls, dbSNP, and 1000 genomes. Three bioinformatics programs also predicted that both mutations are deleterious. Our study not only further supported the importance of LRRC6 in PCD, but also expanded the spectrum of LRRC6 mutations and will contribute to the genetic diagnosis and counseling of PCD patients.

PMID:
29511670
PMCID:
PMC5817365
DOI:
10.1155/2018/1854269
[Indexed for MEDLINE]
Free PMC Article
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4.
Eur J Pediatr. 2018 May;177(5):765-773. doi: 10.1007/s00431-018-3121-2. Epub 2018 Feb 27.

Reduced anaerobic and aerobic performance in children with primary ciliary dyskinesia.

Author information

1
Faculty of Health Sciences, Department of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey.
2
Faculty of Health Sciences, Department of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey. dince@hacettepe.edu.tr.
3
Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Hacettepe University, Samanpazari, 06100, Ankara, Turkey. dince@hacettepe.edu.tr.
4
Medical School, Pediatric Pulmonology Department, Hacettepe University, Ankara, Turkey.

Abstract

Primary ciliary dyskinesia (PCD) restricts lifestyle and increases morbidity. The aim of the study was to investigate anaerobic and aerobic performance in children with PCD and their healthy counterparts. Thirty-one children with PCD and 29 age- and sex-matched healthy subjects were studied. Pulmonary function, hand grip strength (HGS), quadriceps strength (QMS), physical activity, anaerobic capacity (muscle power sprint test), and aerobic performance (modified shuttle walk test (MSWT)) were determined. Pulmonary function, HGS, QMS, mean anaerobic power (MAP), and MSWT distance in PCD were significantly lower than those of healthy subjects (p < 0.05). In PCD, the MAP was significantly correlated with age, FEV1, and the mean kcal for 3 days (p < 0.05), and age was its independent predictor (p < 0.05). The MSWT distance was significantly related to gender and weight (p < 0.05), and gender was selected as its independent predictor (p < 0.05). In healthy controls, the MAP was significantly associated with age, gender, FVC, FEV1, HGS, QMS, and the mean kcal for three days (p < 0.05). The MSWT distance was significantly related to weight and body mass index in healthy group (p < 0.05).

CONCLUSION:

Anaerobic and aerobic performance is impaired in PCD from the early stages. Age determines anaerobic performance. Gender is the determinant of aerobic performance. Whether skeletal muscle characteristics and sex-related changes in body composition affect anaerobic and aerobic capacity in PCD children warrants further study. What is Known: • Exercise performance is determined by anaerobic and aerobic power. • Few studies have shown that PCD patients have lower aerobic performance which is associated with impaired lung function. What is New: • The present research indicated that both anaerobic and aerobic exercise capacity determined using field testing is impaired in PCD from the early stages. • Anaerobic capacity was found to be independently associated with age in PCD. Higher aerobic performance is independently associated with male gender.

KEYWORDS:

Children; Exercise test; Muscle strength; Primary ciliary dyskinesia; Pulmonary function test

PMID:
29487997
DOI:
10.1007/s00431-018-3121-2
[Indexed for MEDLINE]
Icon for Springer
5.
Mult Scler Relat Disord. 2018 Apr;21:69-70. doi: 10.1016/j.msard.2018.02.015. Epub 2018 Feb 14.

A case of dextrocardia following maternal exposure to generic Fingolimod during the first trimester of pregnancy.

Author information

1
MS Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Iranian Center for Neurological Research, Neuroscience Institute, Tehran University of Medical Science, Tehran, Iran.
2
MS Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Iranian Center for Neurological Research, Neuroscience Institute, Tehran University of Medical Science, Tehran, Iran. Electronic address: msahrai@sina.tums.ac.ir.

Abstract

Fingolimod, taken orally once per day, is approved for the treatment of relapsing-remitting multiple sclerosis (MS). It should be stopped at least two months before conception as it is not considered safe during pregnancy or when breast feeding. In vitro and animal studies have found a possibly increased risk of congenital abnormalities following exposure to Fingolimod. Here, we report a 34-year-old female, with a 10-year history of MS who had unexpected pregnancy with exposure to generic Fingolimod during the first 7 weeks. The infant was born with dextrocardia, but without any further structural cardiac or other abnormalities.

KEYWORDS:

Fingolimod; Multiple Sclerosis; Pregnancy

PMID:
29474980
DOI:
10.1016/j.msard.2018.02.015
[Indexed for MEDLINE]
Icon for Elsevier Science
6.
Int J Pediatr Otorhinolaryngol. 2018 Feb;105:176-180. doi: 10.1016/j.ijporl.2017.12.015. Epub 2017 Dec 14.

No evidence of cholesteatoma in untreated otitis media with effusion in children with primary ciliary dyskinesia.

Author information

1
Imperial College NHS Trust, Charing Cross Hospital, Fulham Palace Road, W6 8JS, UK. Electronic address: rghedia@nhs.net.
2
Imperial College NHS Trust, Charing Cross Hospital, Fulham Palace Road, W6 8JS, UK.
3
Royal Brompton and Harefield NHS Trust, Sydney Street, London, SW3 6NP, UK.

Abstract

INTRODUCTION:

Primary Ciliary Dyskinesia (PCD) describes a group of inherited disorders that result in abnormal ciliary motion leading to mucous stasis. Clinical features include almost universally otitis media with effusion (OME), particularly in infants. PCD patients provide us with a cohort of patients with OME that is not treated with ventilatory tube (VT) insertion as these have been shown to result in frequent complications including chronic otorrhoea, early extrusion and persistent perforation without significant improvement to hearing in the long term. This cohort was used to investigate whether children with PCD and OME not treated with VT were predisposed to cholesteatoma formation in the setting of a paediatric quaternary referral centre.

METHODS:

A retrospective chart review was performed of all the children attending a multi-disciplinary PCD clinic at a national quaternary referral centre with a diagnosis of OME. We reviewed otoscopic findings, and audiometry and tympanometry results. We assessed the children in four groups: Watchful waiting, hearing aids, VT, and VT and hearing aids.

RESULTS:

One-hundred-and-one of 107 patients included in the study had a diagnosis of otitis media with effusion. No child with OME and PCD was diagnosed with a cholesteatoma during the follow up period. The only children who had insertion of a ventilatory tube were those who had the procedure prior to the formal diagnosis of PCD. We found a significant complication rate in the children with VT insertion. Hearing improved over time. The prevalence of retraction pockets in untreated OME was 1.72% (3 out of 174 ears).

CONCLUSIONS:

In children with PCD, OME is an almost universal finding in younger children, but not in adolescents. The study supports the current preference to avoid VT insertion in children with PCD as it confers a significantly higher rate of complications. No cases of cholesteatoma were found in this cohort of PCD children with OME managed without VTs.

KEYWORDS:

Cholesteatoma; Otitis media; Primary ciliary dyskinesia; Ventilatory tube

PMID:
29447810
DOI:
10.1016/j.ijporl.2017.12.015
[Indexed for MEDLINE]
Icon for Elsevier Science
7.
Nucl Med Rev Cent East Eur. 2018;21(1):50-52. doi: 10.5603/NMR.a2018.0010.

Quantitation in Dextrocardia on myocardial perfusion imaging: how to perform quantitative analysis using Cedars-Sinai software.

Author information

1
Department of Nuclear Medicine, Taleghani Educational Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. mohsen.qutbi@gmail.com.

Abstract

Dextrocardia, although a rare cardiac abnormality, carries the same risk for cardiac events as other people. SPECT Myocardial perfusion imaging is a potentially helpful diagnostic tool in patients with dextrocardia. Because of swapping of lateral and septal walls on SPECT slices, although visual analysis is possible, quantitation is substantially limited. Here, we introduce a simple practical method to make quantitative analysis feasible and accurate.

KEYWORDS:

Cedars-Sinai software; SPECT myocardial perfusion imaging; dextrocardia; quantitation

PMID:
29442348
DOI:
10.5603/NMR.a2018.0010
[Indexed for MEDLINE]
Free full text
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8.
Adv Exp Med Biol. 2018;1046:301-327. doi: 10.1007/978-981-10-7311-3_15.

ZIC3 in Heterotaxy.

Author information

1
Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
2
Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA. stware@iu.edu.
3
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA. stware@iu.edu.

Abstract

Mutation of ZIC3 causes X-linked heterotaxy, a syndrome in which the laterality of internal organs is disrupted. Analysis of model organisms and gene expression during early development suggests ZIC3-related heterotaxy occurs due to defects at the earliest stage of left-right axis formation. Although there are data to support abnormalities of the node and cilia as underlying causes, it is unclear at the molecular level why loss of ZIC3 function causes such these defects. ZIC3 has putative roles in a number of developmental signalling pathways that have distinct roles in establishing the left-right axis. This complicates the understanding of the mechanistic basis of Zic3 in early development and left-right patterning. Here we summarise our current understanding of ZIC3 function and describe the potential role ZIC3 plays in important signalling pathways and their links to heterotaxy.

KEYWORDS:

Cilia; Gastrulation; Left-right patterning; Mutation; Node; Planar cell polarity

PMID:
29442328
DOI:
10.1007/978-981-10-7311-3_15
[Indexed for MEDLINE]
Icon for Springer
9.
Zhonghua Er Ke Za Zhi. 2018 Feb 2;56(2):134-137. doi: 10.3760/cma.j.issn.0578-1310.2018.02.012.

[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review].

[Article in Chinese; Abstract available in Chinese from the publisher]

Author information

1
Division of Pediatric Palmonology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, China.

Abstract

Objective: To analyze the clinical manifestations, cilia ultrastructure and gene variations of primary ciliary dyskinesia (PCD). Methods: Analysis of three cases diagnosed as PCD by transmission electron microscopy of the endobronchial biopsy material in Division of Pediatric Pulmonology of Shandong Provincial Hospital between 2013 and 2016. Target gene sequence capture and next generation sequencing were used to analyze the gene. Related literatures on gene variation of PCD in Chinese were reviewed from Online Mendelian Inheritance in Man, Human Gene Mutation Database, PubMed and CNKI up to July 2017 by using search terms of "PCD" , "gene" , "Chinese". Results: There were one male and two females aged from 10 to 11 years. The common symptoms included recurrent respiratory infection, sinusitis and bronchiectasis. Two of them had situs inversus. Case 1 had lack of outer and inner dynein arms with compound heterozygous mutation of LRRC6. Case 2 had outer and inner dynein arms defects with heterozygous mutations of DNAH5 and DNAH11. Case 3 had abnormality in microtubule and inner dynein arms with homozygous mutation of CCDC39. All the variations mentioned above have not been reported before. Twelve cases have been reported about gene variations in PCD in Chinese from eight reports. All these patients had recurrent respiratory infection starting soon after birth, rhinosinusitis, and bronchiectasis. Nine of them had dextrocardia. Four cases have taken an effective nasal (or bronchial) mucosal biopsy. 1 case had inner and outer dynein arms defects. One case had inner dynein arms and radial spokes defects. One case had microtubule and central pair defects. And 1 case had normal cilia ultrastructure. Eight kinds of gene variations were found. Three cases had gene variations of DNAH5. 2 cases had gene variations of DYX1C1. 2 cases had gene variations of CCNO. There was 1 case with gene variations of CCDC39, CCDC40, HYDIN, ARMC4 and DNAI1 separately. Conclusions: Recurrent respiratory infection starting soon after birth, rhinosinusitis, and bronchiectasis are the common symptoms of PCD. Eleven of fifteen Chinese PCD patients with positive gene mutations were Kartagener syndrome. Cilia ultrastructure showed defects of inner and outer dynein arms, radial spokes, microtubule and central pair. Ten kinds of gene variations were found: DNAH5, DYX1C1, CCNO, CCDC39, CCDC40, HYDIN, ARMC4, DNAI1, LRRC6、DNAH11.

KEYWORDS:

Cilia; Genes; Kartagener syndrome

PMID:
29429202
[Indexed for MEDLINE]
Icon for Chinese Medical Association Publishing House Ltd.
10.
Reprod Biol Endocrinol. 2018 Feb 5;16(1):10. doi: 10.1186/s12958-018-0321-6.

Live birth after Laser Assisted Viability Assessment (LAVA) to detect pentoxifylline resistant ejaculated immotile spermatozoa during ICSI in a couple with male Kartagener's syndrome.

Author information

1
Department of Obstetrics and Gynecology, Ankara University School of Medicine, Center for Assisted Reproduction, Ankara Universitesi Tip Fakultesi Cebeci Hastanesi, Kadin Hastaliklari ve Dogum AD, ÜYTE Merkezi, Dikimevi-Ankara, Turkey. sinozk@gmail.com.
2
Department of Histology and Embryology, Akdeniz University School of Medicine, Akdeniz Universitesi Tip Fakultesi Histoloji ve Embriyoloji AD, Konyaaltı-Antalya, Turkey.
3
Department of Obstetrics and Gynecology, Ankara University School of Medicine, Center for Assisted Reproduction, Ankara Universitesi Tip Fakultesi Cebeci Hastanesi, Kadin Hastaliklari ve Dogum AD, ÜYTE Merkezi, Dikimevi-Ankara, Turkey.

Abstract

Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive disease with abnormalities in the structure of cilia, causing impairment of muco-ciliary clearance with respiratory tract infections, heterotaxia and abnormal sperm motility with male infertility. Here, with a comprehensive literature review, we report a couple with an infertility history of 9 years and three unsuccessful IVF treatments, where male partner has Kartagener's Syndrome, a subtype of PCD, displaying recurrent respiratory infections, dextrocardia and total asthenozoospermia. His diagnosis was verified with transmission electron microscopy and genetic mutation screening, revealing total absence of dynein arms in sperm tails and homozygous mutation in the ZMYND10, heterozygous mutations in the ARMC4 and DNAH5 genes. Laser assisted viability assay (LAVA) was performed by shooting the sperm tails during sperm retrieval for microinjection, following detection of pentoxifylline resistant immotile sperm. Live births of healthy triplets, one boy and two monozygotic girls, was achieved after double blastocyst transfer.

KEYWORDS:

Asthenozoospermia; ICSI; Immotile cilia; Kartagener’s syndrome; Laser assisted viability assay

PMID:
29402277
PMCID:
PMC5800064
DOI:
10.1186/s12958-018-0321-6
[Indexed for MEDLINE]
Free PMC Article
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11.
Respir Physiol Neurobiol. 2018 May;251:1-7. doi: 10.1016/j.resp.2018.01.010. Epub 2018 Jan 31.

Gas exchanges in children with cystic fibrosis or primary ciliary dyskinesia: A retrospective study.

Author information

1
AP-HP, Unité d'Exploration Fonctionnelle Respiratoire, Hôpital Armand-Trousseau, Paris, France. Electronic address: marilyn.fuger@aphp.fr.
2
AP-HP, Unité d'Epidémiologie Clinique, Hôpital Robert Debré, Paris, France; Université Paris Diderot, Sorbonne Paris-Cité, INSERM U1123 et CIC-EC 1426, Paris, France; INSERM U1138, Equipe 22, Sciences de l'information au service de la médecine personnalisée, Paris, France. Electronic address: camille.aupiais@aphp.fr.
3
AP-HP, Service de Pneumologie pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, Hôpital Trousseau, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, INSERM, Centre de Recherche Saint-Antoine (CRSA), Paris, France. Electronic address: guillaume.thouvenin@aphp.fr.
4
AP-HP, Service de Pneumologie pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, Hôpital Trousseau, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, INSERM, Centre de Recherche Saint-Antoine (CRSA), Paris, France. Electronic address: jessica.taytard@aphp.fr.
5
AP-HP, Service de Pneumologie pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, Hôpital Trousseau, Paris, France. Electronic address: aline.tamalet@cegetel.net.
6
Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933, Paris, France; AP-HP, Service de génétique et d'embryologie médicales, Hôpital Trousseau, Paris, France. Electronic address: estelle.escudier@aphp.fr.
7
AP-HP, Unité d'Epidémiologie Clinique, Hôpital Robert Debré, Paris, France; Université Paris Diderot, Sorbonne Paris-Cité, INSERM U1123 et CIC-EC 1426, Paris, France. Electronic address: priscilla.boizeau@aphp.fr.
8
AP-HP, Service de Pneumologie pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, Hôpital Trousseau, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, INSERM, Centre de Recherche Saint-Antoine (CRSA), Paris, France. Electronic address: harriet.corvol@aphp.fr.
9
AP-HP, Unité d'Exploration Fonctionnelle Respiratoire, Hôpital Armand-Trousseau, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, INSERM, Centre de Recherche Saint-Antoine (CRSA), Paris, France. Electronic address: nicole.beydon@aphp.fr.

Abstract

Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) both entail bronchiectasis and pulmonary impairment as measured using spirometry, during childhood. We aimed at looking whether blood gas exchanges progressed differently between CF and PCD children in a retrospective study of repeated measurements. Comparisons between groups (Wilcoxon-Mann-Whitney and Chi-squared tests) and a mixed linear model, adjusted for age, evaluated associations between diseases and PaO2, PaCO2, or PaO2-PaCO2 ratio. Among 42 PCD and 73 CF children, 62% and 59% had respectively bronchiectasis (P = 0.75). Spirometry and blood gases were similar at inclusion (PaO2 median [IQR] PCD -1.80 [-3.40; -0.40]; CF -1.80 [-4.20; 0.60] z-scores; P = 0.72). PaO2 and PaO2-PaCO2 ratio similarly and significantly decreased with age in both groups (P < 0.01) whereas PaCO2 increased more in CF (P = 0.02) remaining within the range of normal (except for one child). To conclude, gas exchange characteristics, similarly initially impaired in PCD and CF children, tended to less deteriorate with time in PCD children who could benefit from an early diagnosis.

KEYWORDS:

Childhood respiratory disease; Clinical aspects of cystic fibrosis; Primary ciliary dyskinesia; Pulmonary gas exchange

PMID:
29366817
DOI:
10.1016/j.resp.2018.01.010
[Indexed for MEDLINE]
Icon for Elsevier Science
12.
Asian Cardiovasc Thorac Ann. 2018 Feb;26(2):142-145. doi: 10.1177/0218492318755180. Epub 2018 Jan 16.

Mitral valve replacement via a left thoracotomy in dextrocardia and situs solitus.

Author information

1
1 Department of Cardiovascular Surgery, 16811 Coruna University Hospital , Coruna, Spain.
2
2 Department of Radiology, 16811 Coruna University Hospital , Coruna, Spain.
3
3 Department of Cardiology, 16811 Coruna University Hospital , Coruna, Spain.

Abstract

Dextrocardia with situs solitus and severe mitral regurgitation is a rare clinical presentation which posse a surgical challenge and requires specific preoperative planning. A 54-year-old women with this anatomy, multiple thoracic procedures, and severe mitral valve regurgitation underwent successful mitral valve replacement with a 27-mm mechanical prosthesis through a left thoracotomy under ventricular fibrillation, on the basis of computed tomography findings. We emphasize the importance of preoperative planning and a surgical approach through a left thoracotomy and under ventricular fibrillation.

KEYWORDS:

Dextrocardia; Heart valve prosthesis implantation; Mitral valve; Situs inversus; Thoracotomy; Ventricular fibrillation

PMID:
29338299
DOI:
10.1177/0218492318755180
[Indexed for MEDLINE]
Icon for Atypon
13.
J Med Case Rep. 2018 Jan 10;12(1):5. doi: 10.1186/s13256-017-1538-2.

Kartagener's syndrome: a case report.

Author information

1
Department of Internal Medicine, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia. abilo.tadesse@yahoo.com.
2
Department of Internal Medicine, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
3
Department of Radiology, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.

Abstract

BACKGROUND:

Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener's syndrome.

CASE PRESENTATION:

A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade. Clinical and imaging findings revealed chronic sinusitis, bronchiectasis, dextrocardia, and situs inversus. He was treated with orally administered antibiotics, mucolytic, and chest physiotherapy. He was symptomatically better with the above therapy, and started on a long-term low-dose prophylactic antibiotic.

CONCLUSIONS:

Patients with Kartagener's syndrome exist in Ethiopia as cases of chronic recurrent sinopulmonary infections. As there is no easy, reliable non-invasive diagnostic test for Kartagener's syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener's syndrome is diagnosed.

KEYWORDS:

Bronchiectasis; Chronic sinusitis; Kartagener’s syndrome; Primary ciliary dyskinesia; Situs inversus

PMID:
29316973
PMCID:
PMC5761107
DOI:
10.1186/s13256-017-1538-2
[Indexed for MEDLINE]
Free PMC Article
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14.
Medicine (Baltimore). 2017 Dec;96(48):e8947. doi: 10.1097/MD.0000000000008947.

Catheter ablation of premature ventricular contractions originating from aortic sinus cusps in a patient with dextrocardia and situs solitus: A case report.

Author information

1
Hangzhou First People's Hospital, Nanjing Medical University, Zhejiang Chinese Medical University, Shangcheng District, Hangzhou, Zhejiang, China.

Abstract

BACKGROUND:

Premature ventricular contractions (PVCs) originating from aortic sinus cusps is not infrequent and can be eliminated effectively by radiofrequency ablation with rare complications. However, after a review of the medical literature, and to our knowledge, this is the first case of successful idiopathic aortic sinus cusps-PVC-ablation using a 3-dimensional (3D) mapping system in an adult with dextrocardia.

METHODS:

A 62-year-old male with dextrocardia and situs inversus underwent catheter ablation of frequent PVCs. The electrocardiograms (ECG) were recorded by placement of the electrodes in reversed positions. The PVCs exhibited left bundle branch block and inferior axis QRS morphology with transition at leads V2-V3. The activation mapping indicated the earliest site of ventricular activation between the left and right aortic sinus cusps, highlighting that catheter ablation was successful at this point.

RESULTS:

The catheter ablation was successful between the left and right aortic sinus cusps, and the PVCs were not detected for the subsequent 30 min following the procedure as well as for the rest of the hospital stay.

CONCLUSION:

Combined with ECG electrodes in reversed positions and 3D electroanatomical mapping system, catheter ablation of PVCs originating from aortic sinus cusps in patients with dextrocardia can be safely and effectively performed.

PMID:
29310391
PMCID:
PMC5728792
DOI:
10.1097/MD.0000000000008947
[Indexed for MEDLINE]
Free PMC Article
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15.
Int J Pediatr Otorhinolaryngol. 2018 Jan;104:161-165. doi: 10.1016/j.ijporl.2017.11.005. Epub 2017 Nov 11.

Hearing loss in children with primary ciliary dyskinesia.

Author information

1
Department of Otolaryngology-Head & Neck Surgery, Medical University of South Carolina, 135 Rutledge Ave, MSC 550, Charleston, SC 29425, USA.
2
Department of Otolaryngology-Head & Neck Surgery, Medical University of South Carolina, 135 Rutledge Ave, MSC 550, Charleston, SC 29425, USA. Electronic address: schopper@musc.edu.

Abstract

OBJECTIVES:

To evaluate the type and severity of hearing impairment in pediatric patients with primary ciliary dyskinesia (PCD) and relate these measures to patient demographics, treatment options, and other otologic factors.

METHODS:

A retrospective analysis of children with a diagnosis of PCD, Kartagener's syndrome, or situs inversus in the AudGen Database was conducted. Audiograms were analyzed for type of hearing loss (HL), severity, laterality, and progression. Medical charts were reviewed to identify factors that influence severity and progression of hearing loss.

RESULTS:

56 patients met inclusion criteria and 42 patients had HL. 66.6% had bilateral and 33.3% had unilateral loss (70 total ears with HL). Conductive hearing loss (CHL) was the most common type of HL, though 30% of children had some sensorineural component to their hearing loss. 92.9% of children with HL received at least one diagnosis of otitis media, but HL did not improve in the majority (77.8%) of ears in our study regardless of ear tube placement.

CONCLUSIONS:

Slight to mild CHL and all types of otitis media are prevalent among patients with PCD, and some of these children have sensorineural hearing loss (SNHL). All patients diagnosed with situs inversus at birth should be evaluated by an otolaryngologist.

KEYWORDS:

Pediatric hearing loss; Primary ciliary dyskinesia

PMID:
29287859
DOI:
10.1016/j.ijporl.2017.11.005
[Indexed for MEDLINE]
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16.
BMC Pregnancy Childbirth. 2017 Nov 23;17(1):393. doi: 10.1186/s12884-017-1579-y.

Comparing levocardia and dextrocardia in fetuses with heterotaxy syndrome: prenatal features, clinical significance and outcomes.

Author information

1
Department of Ultrasound Diagnosis, The Second Xiangya Hospital, Central South University, 139 Renmin Road (M), Changsha, Hunan, 410011, China.
2
Department of Ultrasonography, Chenzhou No.1 People's hospital, Chenzhou, Hunan, 423000, China.
3
Department of Ultrasonography, The first affiliated hospital of University of South China, Hengyang, Hunan, 421001, China.
4
Department of Ultrasonography, Maternal & Child Health Center of Changsha, Changsha, Hunan, 410011, China.
5
Department of Ultrasonography, Maternal & Child Health Center of Zhuzhou, Zhuzhou, Hunan, 412000, China.
6
Department of Ultrasound Diagnosis, The Second Xiangya Hospital, Central South University, 139 Renmin Road (M), Changsha, Hunan, 410011, China. hnzqc2013@163.com.

Abstract

BACKGROUND:

To investigate the differences in cardiovascular disease, extracardiac anomalies and outcomes between fetuses with levocardia and dextrocardia.

METHODS:

Clinical demographics, prenatal features, postnatal characteristics and the outcomes of fetuses with levocardia or dextrocardia were recorded and analyzed.

RESULTS:

Sixty-five fetuses with dextrocardia and thirty-eight fetuses with levocardia were enrolled. Right ventricle outlet obstruction, atrioventricular septal defect and intestinal malrotation were common in both groups. Univentricular physiology, transposition of the great arteries and esophageal atresia were more frequent in fetuses with levocardia, whereas abnormal pulmonary venous connection, double outlet of right ventricle, left ventricle outlet obstruction and brain abnormalities were more frequent in the dextrocardia group. The accuracy of evaluating cardiac malformations was high, but the sensitivity in assessing extracardiac abnormalities was low.

CONCLUSIONS:

Although the disorders have certain overlapping features, there are several differences between fetuses with levocardia and dextrocardia. These findings might improve patient counseling and perinatal management.

KEYWORDS:

Dextrocardia; Heterotaxy; Levocardia; Prenatal diagnosis

PMID:
29169330
PMCID:
PMC5701355
DOI:
10.1186/s12884-017-1579-y
[Indexed for MEDLINE]
Free PMC Article
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17.
BMC Cardiovasc Disord. 2017 Nov 16;17(1):281. doi: 10.1186/s12872-017-0712-1.

Successful percutaneous coronary intervention for an in-stent chronic total occlusion in a patient with dextrocardia: a case report.

Wild J1, Gori T2,3, Münzel T2,3,4, Wenzel P2,3,4.

Author information

1
Center for Cardiology - Cardiology I, University Medical Center Mainz, Langenbeckstrasse 1, 55131, Mainz, Germany. johannes.wild@unimedizin-mainz.de.
2
Center for Cardiology - Cardiology I, University Medical Center Mainz, Langenbeckstrasse 1, 55131, Mainz, Germany.
3
German Center for Cardiovascular Research (DZHK) - Partner site Rhine-Main, University Medical Center Mainz, Langenbeckstrasse 1, 55131, Mainz, Germany.
4
Center for Thrombosis and Hemostasis, University Medical Center Mainz, Langenbeckstrasse 1, 55131, Mainz, Germany.

Abstract

BACKGROUND:

Percutaneous coronary interventions of chronic total occlusion represent one of the most challenging issues in interventional cardiology. A Caucasian patient with dextrocardia presented with an in-stent chronic total occluded right coronary artery, a constellation which has not been described previously in the literature.

CASE PRESENTATION:

A 69-year-old man with pre-known situs inversus totalis and a long history of coronary artery disease with multiple interventions and stent-implantations presented to our department suffering from episodes of chest pain under exercise. A coronary angiogram showed a completely occluded right coronary artery in the area of a drug-eluting stent which had been implanted eight years before. We found collaterals from the left coronary artery system and signs of calcification, so the lesion was classified as chronic total occlusion and the recanalization using an antegrade wire escalation technique successfully performed.

CONCLUSION:

This is the first reported case of an in-stent chronic total occlusion in situs inversus with dextrocardia. Our experience in this case demonstrates the feasibility of recanalization of in-stent chronic total occlusions even in the rare setting of this congenital cardiac malposition combined with severe coronary artery disease.

KEYWORDS:

Chronic total occlusion; Coronary artery disease; Dextrocardia

PMID:
29145812
PMCID:
PMC5693446
DOI:
10.1186/s12872-017-0712-1
[Indexed for MEDLINE]
Free PMC Article
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18.
Otol Neurotol. 2017 Dec;38(10):e451-e456. doi: 10.1097/MAO.0000000000001599.

Analysis of Otologic Features of Patients With Primary Ciliary Dyskinesia.

Author information

1
*Department of Otorhinolaryngology, Head and Neck Surgery, Mie University Graduate School of Medicine †Department of Otorhinolaryngology, Mie National Hospital ‡Electron Microscopy Research Center §Central Clinical Laboratories, Mie University Graduate School of Medicine ||Institute for Clinical Research, Mie National Hospital ¶Division of Personalized Medicine, Mie University Graduate School of Medicine, Tsu, Mie, Japan.

Abstract

OBJECTIVE:

To evaluate otologic features of primary ciliary dyskinesia (PCD), especially eardrum features, audiometric findings, and clinical course.

STUDY DESIGN:

Retrospective patient review.

SETTING:

Tertiary referral center.

PATIENTS:

Fifteen patients (mean age, 16.9 years [range, 1-32 yr]; 8 males and 7 females) diagnosed with PCD at our university hospital in the last 12 years.

INTERVENTION:

Diagnostic.

MAIN OUTCOME MEASURES:

Electron microscopy of nasal cilia, gene mutation analysis, endoscopy of 30 eardrums, pure-tone audiometry, and tympanometry.

RESULTS:

All 15 patients showed ciliary ultrastructural abnormalities on electron microscopy and/or biallelic mutations in genes associated with ciliary function or structure. All 30 eardrums examined showed certain abnormalities. Fourteen patients had otitis media with effusion or its sequelae. The remaining patient had chronic otitis media. Pure-tone audiometry revealed the mean air conduction thresholds to be 25.0 and 26.4 dB in the right and left ears, respectively. In the ears with better hearing and worse hearing, the mean air conduction thresholds were 22.3 and 29.0 dB respectively.

CONCLUSION:

Otologic disease among patients with PCD essentially comprised otitis media with effusion, and the patients' eardrums showed a variety of findings. Knowledge of these otologic features may lead to the early detection of PCD.

PMID:
29135867
DOI:
10.1097/MAO.0000000000001599
[Indexed for MEDLINE]
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19.
Thorax. 2018 Feb;73(2):101-102. doi: 10.1136/thoraxjnl-2017-210776. Epub 2017 Nov 13.

Primary ciliary dyskinesia: keep it on your radar.

Author information

1
Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
2
Department of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.
3
Marsico Lung Institute, Cystic Fibrosis Research Center, University of North Carolina, Chapel Hill, North Carolina.
4
Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.

KEYWORDS:

paediatric lung disaese

PMID:
29133352
PMCID:
PMC6040643
[Available on 2019-02-01]
DOI:
10.1136/thoraxjnl-2017-210776
[Indexed for MEDLINE]
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20.
J Korean Med Sci. 2017 Dec;32(12):2069-2072. doi: 10.3346/jkms.2017.32.12.2069.

A Case of Multiple Cardiovascular and Tracheal Anomalies Presented with Wolff-Parkinson-White Syndrome in a Middle-aged Adult.

Author information

1
Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital, Seoul, Korea.
2
Department of Internal Medicine, Jeju National University School of Medicine, Jeju National University Hospital, Jeju, Korea.
3
Department of Radiology, Jeju National University School of Medicine, Jeju National University Hospital, Jeju, Korea.
4
Department of Internal Medicine, Jeju National University School of Medicine, Jeju National University Hospital, Jeju, Korea. masque70@dreamwiz.com.

Abstract

Congenital cardiovascular anomalies, such as dextrocardia, persistent left superior vena cava (SVC), and pulmonary artery (PA) sling, are rare disorders. These congenital anomalies can occur alone, or coincide with other congenital malformations. In the majority of cases, congenital anomalies are detected early in life by certain signs and symptoms. A 56-year-old man with no previous medical history was admitted due to recurrent wide QRS complex tachycardia with hemodynamic collapse. A chest radiograph showed dextrocardia. After synchronized cardioversion, an electrocardiogram revealed Wolff-Parkinson-White (WPW) syndrome. Persistent left SVC, PA sling, and right tracheal bronchus were also detected by a chest computed tomography (CT) scan. He was diagnosed with paroxysmal supraventricular tachycardia (PSVT) associated with WPW syndrome, and underwent radiofrequency ablation. We reported the first case of situs solitus dextrocardia coexisting with persistent left SVC, PA sling and right tracheal bronchus presented with WPW and PSVT in a middle-aged adult. In patients with a cardiovascular anomaly, clinicians should consider thorough evaluation of possibly combined cardiovascular and airway malformations and cardiac dysrhythmia.

KEYWORDS:

Bronchus; Dextrocardia; Pulmonary Artery; Superior Vena Cava; Wolff-Parkinson-White Syndrome

PMID:
29115093
PMCID:
PMC5680510
DOI:
10.3346/jkms.2017.32.12.2069
[Indexed for MEDLINE]
Free PMC Article
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