Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary Dyskinesia

Kennedy, Marcus P.; Omran, Heymut; Leigh, Margaret W.; Dell, Sharon D.; Morgan, Lucy; Molina, Paul L.; Robinson, B.; Minnix, Susan L.; Olbrich, Heike; Severin, Thomas; Ahrens, Peter; Lange, Lars; Morillas, Hilda N.; Noone, Peadar G.; Zariwala, Maimoona A.; Knowles, Michael R.

doi:10.1161/circulationaha.106.649038

Cited by 394 publications

(350 citation statements)

References 48 publications

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“…This result, in agreement with previous data [6], is lower than the classically reported proportion of situs inversus [5,7,17]. This discrepancy could be due to patient selection mainly based on the presence of chronic airway infections of unknown origin, but not necessarily associated with situs inversus.…”

Section: Discussionsupporting

confidence: 89%

“…Situs inversus associated with airway infections is the most suggestive condition justifying systematic TEM analysis of cilia. However, situs inversus is not constant in PCD [5][6][7]17] and ciliary studies are often proposed in the presence of upper and/or lower chronic airway infections of unknown origin. The strong relationship between the presence of a sinopulmonary syndrome and the detection of a main defect suggests that this syndrome could be a good clinical criterion to improve patient selection for TEM analysis of cilia.…”

Section: Discussionmentioning

confidence: 99%

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A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

Papon¹,

Coste²,

et al. 2009

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Transmission electron microscopy (TEM) analysis of ciliary ultrastructure is classically used for the diagnosis of primary ciliary dyskinesia (PCD). We report our extensive experience of TEM analysis in a large series of patients in order to evaluate its feasibility and results.TEM analysis performed in 1,149 patients with suspected PCD was retrospectively reviewed. Biopsies (1,450) were obtained from nasal (44%) or bronchial (56%) mucosa in children (66.5%) and adults (33.5%).TEM analysis was feasible in 71.4% of patients and showed a main defect suggestive of PCD in 29.9%. TEM was more feasible in adults than in children, regardless of the biopsy site. Main defects suggestive of PCD were found in 76.9% of patients with sinopulmonary symptoms and in only 0.4% of patients with isolated upper and 0.4% with isolated lower respiratory tract infections. The defect pattern was similar in children and adults, involving dynein arms (81.2%) or central complex (CC) (18.8%). Situs inversus was never observed in PCD patients with CC defect. Kartagener syndrome with normal ciliary ultrastructure was not an exceptional condition (10.2% of PCD).In conclusion, TEM analysis is feasible in most patients and is particularly useful for PCD diagnosis in cases of sinopulmonary syndrome of unknown origin.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

Papon¹,

Coste²,

et al. 2009

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“…The prevalence of PCD within the heterotaxic subclass is unknown [45] 40-50% of PCD patients present with situs inversus totalis (Kartagener's syndrome in PCD) [9] 6% show heterotaxy (situs ambiguus) [46] Mild fetal cerebral ventriculomegaly [47] Neonatal .75% of full-term neonates with PCD exhibit neonatal respiratory distress requiring supplemental oxygen for days to weeks [8,9] Continuous rhinorrhoea from the first day of life [48][49][50] Mirror-image organ arrangement and other forms of heterotaxy (see Antenatal rows above) [51] Hydrocephalus may occur in some individuals with PCD, and may reflect dysfunctional ependymal cilia [47,52,53] Childhood Chronic productive or wet-sounding cough, associated or not with recurrent atelectasis or pneumonia Atypical asthma that is nonresponsive to treatment, especially if a wet-sounding cough is present…”

Section: Pcd As An Associated Diagnosismentioning

confidence: 99%

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Barbato¹,

Frischer²,

Kuehni³

et al. 2009

Eur Respir J

465

587

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Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease, situs abnormalities and abnormal sperm motility.The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either specific ultrastructural ciliary defects identified by transmission electron microscopy or evidence of abnormal ciliary function.Although the management of children affected with PCD remains uncertain and evidence is limited, it remains important to follow-up these patients with an adequate and shared care system in order to prevent future lung damage.This European Respiratory Society consensus statement on the management of children with PCD formulates recommendations regarding diagnostic and therapeutic approaches in order to permit a more accurate approach in these patients. Large well-designed randomised controlled trials, with clear description of patients, are required in order to improve these recommendations on diagnostic and treatment approaches in this disease.

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“…Studies have used different definitions and classification systems for heterotaxy [12,[78][79][80][81][82][83], despite standardisation efforts [84]. While some authors group situs inversus and situs ambiguous under the umbrella of heterotaxy [82], others believe it should be restricted to situs ambiguous only [2,81,83,84].…”

Section: Cardiac Managementmentioning

confidence: 99%

“…While some authors group situs inversus and situs ambiguous under the umbrella of heterotaxy [82], others believe it should be restricted to situs ambiguous only [2,81,83,84]. Using the latter definition, KENNEDY et al [83] reported that over 6% of PCD patients presented with heterotaxy. This is believed to be an underestimation, as abdominal imaging and echocardiograms are not carried out routinely in PCD patients.…”

Section: Cardiac Managementmentioning

confidence: 99%

Clinical care for primary ciliary dyskinesia: current challenges and future directions

Rubbo

Lucas

2017

Eur Respir Rev

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Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.

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Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary Dyskinesia

Cited by 394 publications

References 48 publications

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Clinical care for primary ciliary dyskinesia: current challenges and future directions

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