Pulmonary Developmental Anomaly Associated with Klippel-Feil Syndrome and Anomalous Atrioventricular Conduction

Bhagat, Rajesh; Pant, Kaushal; Singh, Vijay K.; Pant, C. S.; Gupta, Ajay; Jaggi, O. P.

doi:10.1378/chest.101.4.1157

Cited by 10 publications

(6 citation statements)

References 8 publications

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“…1,2 Respiratory failure, pulmonary hypertension and cor pulmonale have been reported to be associated with other thoracic deformities such as pectus excavatum, severe kyphoscoliosis, neuromuscular disorders, rheumatoid spondylitis, Hurler syndrome and obesity,' although review of the literature has revealed only two case reports of respiratory failure in patients with Klippel-Feil syndrome complicated by focal pneumonia or pulmonary hypoplasia. 1,4 The association of PH has not previously been reported in this syndrome. This patient is therefore the first to develop respiratory failure and PH without coexistent pneumonia and developmental anomalies in the lungs.…”

Section: Discussionmentioning

confidence: 84%

“…3 Regional changes in lung growth due to the deformed thorax also cause ventilation-perfusion imbalance; autopsy of the lungs in kyphoscoliosis has demonstrated non-uniform distributions of alveolar volume with areas of compression and areas of decreased vascularity . 4 The relatively large heart in the reduced thoracic space further degrades ventilationperfusion imbalance.…”

Section: Discussionmentioning

confidence: 99%

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Respiratory failure and pulmonary hypertension associated with Klippel-Feil syndrome

et al. 1999

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A 28-year-old woman with a deformed thorax and kyphoscoliosis associated with Klippel-Feil syndrome developed respiratory failure with pulmonary hypertension. Pulmonary 133Xe ventilation and 99mTc-MAA perfusion scintigraphies showed maldistributions of lung ventilation and perfusion, and noticeably delayed 133Xe washout from the lungs. Dynamic breathing MR imaging showed poor and/or asynchronous respiratory movements of the chest wall and diaphragm. These findings indicate that the perfusion-ventilation imbalance, the decreased ventilatory turnover, and expiratory flow from the alveolar space partly derived from the impaired respiratory mechanics may be responsible for the respiratory complications in this patient.

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Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Respiratory failure and pulmonary hypertension associated with Klippel-Feil syndrome

et al. 1999

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“…Similarly, pulmonary developmental anomalies have been reported. 9 Levo-looped transposition of the great arteries in patients with Klippel-Feil syndrome is a very rare entity. However, this cardiac finding supports the hypothesis that cardiac abnormalities may be related to the development of the spine providing insight into the clinical and embryological data of this syndrome.…”

Section: K Lippel-feil Syndrome Is a Rare Skeletalmentioning

confidence: 99%

“…Although the ventricular septal defect is the most common heart anomaly, other cardiac malformations, such as cor triatriatum, 5 coarctation of the aorta with dextrocardia and situs inversus, 6 total anomalous pulmonary venous connection, 7 levo-looped transposition of the great arteries, 8 and anomalous atrioventricular conduction defects, 9 have also been described. Similarly, pulmonary developmental anomalies have been reported 9 …”

mentioning

confidence: 99%

Klippel–Feil syndrome and levo-looped transposition of the great arteries

Martínez‐Quintana

Rodríguez‐González

2014

Cardiol Young

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Klippel-Feil syndrome is a skeletal disorder characterised by low hairline and a short neck due to abnormal fusion of two or more cervical vertebrae. Although congenital heart and lung defects are infrequent, some abnormalities such as cor triatriatum, coarctation of the aorta, total anomalous pulmonary venous connection, or lung agenesis have been reported. The challenge of recognising Klippel-Feil syndrome lies in the fact that there is an association of this syndrome with other significant conditions such as skeletal, genitourinary, neurological, ear, and some cardiac defects. We report a Klippel-Feil syndrome type III 14-year-old patient with a levo-looped transposition of the great arteries. In addition, the patient had agenesis of the left upper-lung lobe.

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“…Klippel-Feil syndrome, for instance, has been known for its potential to cause kyphoscoliotic respiratory failure. [4][5][6] Scoliosis can be combined with anterior chest wall deformities in young children, especially boys. 7 The early childhood forms often cause cardiopulmonary dysfunction, whereas deformities acquired in adolescence and later are seldom severe enough to do so.…”

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confidence: 99%

Restrictive Chest Wall Disorders

Donath

Miller

2009

Semin Respir Crit Care Med

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Hypoventilation can be caused by diseases of the chest wall. Any anatomical or functional abnormality of the bony thorax increases dead space ventilation and the work of breathing, whether congenital or acquired, acute or chronic, and whether its cause is infectious, traumatic, environmental, iatrogenic, or unknown. In this article, we discuss these heterogeneous disorders from the viewpoint of the practicing nonpediatric pulmonary physician, only briefly touching on surgical, pediatric, rheumatologic, and other nonpulmonary ramifications. Emphasis is on the most common and the best researched forms of chest wall restriction, including kyphoscoliosis, fibrothorax, thoracoplasty, flail chest, and ankylosing spondylitis. Other diseases such as osteoporosis with its less well known pulmonary effects, and some rarely seen entities, are briefly discussed.

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Pulmonary Developmental Anomaly Associated with Klippel-Feil Syndrome and Anomalous Atrioventricular Conduction

Cited by 10 publications

References 8 publications

Respiratory failure and pulmonary hypertension associated with Klippel-Feil syndrome

Respiratory failure and pulmonary hypertension associated with Klippel-Feil syndrome

Klippel–Feil syndrome and levo-looped transposition of the great arteries

Restrictive Chest Wall Disorders

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