Chronic Obstructive Pulmonary Disease and Pulmonary Hypertension in a Patient With Klippel-Feil Syndrome: A Rare Association

Abstract

SESSION TITLE: Airways Global Case Reports I SESSION TYPE: Global Case Report Poster PRESENTED ON: Tuesday, October 27, 2015 at 01:30 PM - 02:30 PM INTRODUCTION: Klippel-Feil syndrome (KFS) is a rare condition associated with multiple congenital anomalies. It's actual incidence is unknown. Nevertheless, it has been estimated that it occurs in approximately 1 in 40,000 to 42,000 newborns. Reported cases with pulmonary involvement includes agenesis and hypoplasia of the lung, pulmonary hypertension (PH) and bronchial asthma. To our knowledge, chronic obstructive pulmonary disease (COPD) with pulmonary hypertension in a patient with KFS has never been cited in the literature, hence we report the finding in a patient with such an association. CASE PRESENTATION: A 54-year-old obese Filipino male diagnosed with congenital heart disease (patent foramen ovale) and hypertension was admitted at the Philippine Heart Center due to progressive dyspnea and non productive cough for twelve days. He was a previous 30-pack year smoker. Physical examination revealed a short statured-individual with low hairline, short and webbing of the neck. He has evident chest wall deformity associated with thoracolumbar scoliosis. He was in cardio-respiratory distress. Auscultation of the chest showed bibasal crackles and expiratory wheezes. Arterial blood gas analysis showed an acute respiratory acidosis with adequate oxygenation, hence he required assisted mechanical ventilatory support. Chest radiograph showed mild pulmonary congestion with pneumonic infiltrates and magnified heart. Electrocardiogram showed nonspecific ST-T wave changes with right axis deviation. Troponin I was elevated. He was then started with acute coronary syndrome regimen, antibiotics and inhaled short-acting bronchodilator. Echocardiography showed dilated right ventricle with hypertrophy and dilated main pulmonary artery with mild PH (48 mmHg). In lieu with the acute renal failure, he was referred to a nephrologist. A request of kidney ultrasound showed absent right kidney. In line with the clinical features KFS a radiography of the spine showed fusion of C1 and basal output and multiple fusion of C2, C3 and C4 cervical vertebrae, hence confirming the diagnosis. Pulmonary function test showed very severe obstructive ventilatory defect with no significant response to bronchodilator, hence a diagnosis of severe COPD was made. He was successfully liberated from ventilatory support and discharged after 3 weeks of hospitalization with treatment of inhaled long-acting bronchodilator plus steroid. DISCUSSION: Klippel-Feil syndrome is a rare skeletal disorder primarily characterized by abnormal union of two or more cervical vertebrae. The triad of low hairline, short neck and limited neck movement which are present in the case remains to be the hallmark of the disorder. Moreover, involvement of visceral anomalies such as patent foramen ovale and right kidney agenesis merely defined the diagnosis. The association with COPD and PH is yet to be highlighted since no reports are available in the literature. Nevertheless, with the patient's history of chronic smoking provides a strong risk factor for the development of severe airflow obstruction. The presence of patent foramen ovale is rare in this case and poses no effect in the development of PH. The combined effects of hypoxic pulmonary vasoconstriction, inflammation and loss of pulmonary capillaries due to severe COPD could be the main insult. Furthermore, Suga et al explained the contributory effect of thoracic deformity in PH. This is due to hypoventilation and restriction of the pulmonary vascular bed causing reactive pulmonary arterial vasoconstriction. Treatment of patients with KFS is directed on associated anomalies or co-morbidities. In this case, management of acute respiratory failure due to complicating comorbidities was made. CONCLUSIONS: Klippel-Feil syndrome is a clinically well recognized disorder and commonly associated with many congenital malformations. Although rare, COPD and PH may occur with this syndrome. Clinicians should be directed towards detecting associated anomalies or co-morbidities for appropriate management. Reference #1: Klippel M, Feil A. “Un cas d'absence des vertebres cervicales. Avec cage thoracique remontant jusqu'a la base du crane (cage thoracique cervicale)”. Nouv Iconog Salpetriere 1912. 25: 223-250. Reference #2: Tracy M, Dormans JP,. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res 2004; (424): 183-90 Reference #3: Suga K, Motoyama K, Hara A, Kume N et al. Respiratory failure and pulmonary hypertension associated with KFS. Annals of nuclear medicine 1999. 13(6): 441-446. DISCLOSURE: The following authors have nothing to disclose: Edgardo Tiglao, Teresita DeGuia, Maria Paz Mateo No Product/Research Disclosure Information