Research Article More Information *Address for Correspondence: Samir Bejic, Main How often is Klippel-Feil Syndrome Centre of Primary Medical Health Care, Sarajevo, Bosnia and Herzegovina, Tel: +387 61 467 802; Email: [email protected] associated with congential heart Submitted: 16 August 2019 Approved: 02 September 2019 disease presentation of fi ve cases and Published: 03 September 2019 How to cite this article: Bejiqi R, Retkoceri R, Maloku A, Bejiqi R, Mustafa A, et al. How often is a review of the literature Klippel-Feil Syndrome associated with congential heart disease presentation of fi ve cases and a Ramush Bejiqi1, Ragip Retkoceri2, Arlinda Maloku3, Rinor Bejiqi4, review of the literature. J Cardiol Cardiovasc Med. 2019; 4: 110-116. Aferdita Mustafa3, Faruk Husremovic5 and Samir Bejic6* DOI: dx.doi.org/10.29328/journal.jccm.1001050 1Visiting Professor, Health Science Centre, University of Texas, San Antonio, Texas, USA ORCID: orcid.org/0000-0002-5706-2363 2Associate Professor, University of Gjakova, Gjakova, Republic of Kosovo 3Division of Cardiology, Pediatric Clinic, University Clinical Centre of Kosovo, Prishtina, Republic of Copyright: © 2019 Bejiqi R, et al. This is an open access article distributed under the Creative Kosovo Commons Attribution License, which permits 4 Medical Faculty, University of Prishtina, Prishtina, Republic of Kosovo unrestricted use, distribution, and reproduction 5Cantonal Hospital, Zenica, Bosnia and Herzegovina in any medium, provided the original work is 6Main Centre of Primary Medical Health Care, Sarajevo, Bosnia and Herzegovina properly cited Keywords: Cervical vertebra fusion syndrome; Klippel-Feil syndrome; Short neck; Low hairline; Summary Congenital heart disease Introduction: Klippel-Feil syndrome (KFS), is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. In some individuals, KFS can be associated with a variety of additional symptoms and physical abnormalities which contribute in the deterioration and complication of the condition of the child. Aim of presentation: Here, we report fi ve children from Kosovo with KFS associated with different heart abnormalities, clinical presentation, diagnosis, management, and outcomes of selected conditions in resources-limited settings. Methods: Retrospectively we analysed medical reports of fi ve children, diagnosed at different age with congenital disease and clinical and lab signs of Klippel-Feil syndrome. Conclusion: Basing on our cases, all diagnosed in a small country as a Kosovo, we can conclude that KFS is not such a rare condition. In addition, such syndrome is not so rarely associated with different congenital heart disease. In four cases cardiac surgery was indicated and successfully was done abroad Kosovo in the lack of such services in Kosovo. Introduction to the clinicians is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform Klippel–Feil syndrome (KFS), known also with synonyms: the appropriate workup for diagnosis [1]. The clinical cervical vertebra fusion syndrome, Klippel-Feil deformity, presentation of Klippel-Feil syndrome is varied because of the Klippel-Feil sequence disorder), is a rare disease, initially different associated syndromes and anomalies that can occur reported in 1884 by Maurice Klippel and André Feil from in patients with this syndrome. A complete history and careful France, characterized by the congenital fusion of any two of physical examination may reveal some associated anomalies. the seven cervical vertebrae. Since irst classiication from Feil in three categories (I-III) other classiication systems Klippel-Feil syndrome is a rare skeletal disorder primarily have been advocated to describe the anomalies, predict the characterized by abnormal union or fusion of two or more potential problems, and guide treatment decisions. Patients bones of the spinal column (vertebrae) within the neck with Klippel-Feil syndrome usually present the disease (cervical vertebrae). For the irst time, it has been described during childhood, but may present later in life. The challenge in 1912, independently from Maurice Klippel and Andre Feil. Open Access www.heighpubs.org 110 How often is Klippel-Feil Syndrome associated with congential heart disease presentation of fi ve cases and a review of the literature Three major features result from this abnormality: a short of the superior-most vertebral body which contains formed neck, a limited range of motion in the neck, and a low hairline posterior elements. The fused vertebral bodies are small and at the back of the head. In some individuals, KFS can be also have an abnormal anterior convex coniguration. On the associated with a variety of additional symptoms and physical lexion and extension radiographs and atlantoaxial, instability abnormalities but very rare with structural abnormalities of is identiied. The skull projects over most of the cervical the heart - congenital heart defects [2]. spine on the AP views so evaluation for vertebral bodies is limited. The posterior skull is noted to have a “beaten Klippel-Feil syndrome (KFS) is a congenital anomaly copper” appearance. A cervical rib is present on the right. characterized by a defect in the formation or segmentation of The paravertebral soft tissues have normal appearance. The the cervical vertebrae, resulting in a fused appearance. The nasopharynx, oropharynx, and laryngopharynx are patent and clinical triad consists of short neck, low posterior hairline, and clear. Family history was normal for congenital heart disease, limited neck movement, although less than 50% of patients clefts, MR/DD, seizures, hearing loss, eye, Dx, diabetes, other demonstrate all 3 clinical features. However, despite the lack birth defects, and pregnancy losses. Consanguinity is denied. of accurate epidemiological data from Kosovo, KFS and variety Genetics examination conirmed new mutations in the are rare in children and adults on this region. KFS is usually non- GDF6. At the 7th day of birth, at the “Hospital Universitario malignant but causes signiicant morbidity, especially when La Paz” in Madrid surgical repair of the anomalous pulmonary is associated with anomalies in vital organs [3]. Discussion venous return was done successfully and in the next day, in of unique aspects of etiology, diagnosis, and management in stable condition, was extubated. At the 15th day of life he was underserved regions of Kosovo may be important to raise discharged on the only Captopril, 0.5mg/kg three times daily. awareness in health professionals, allows timely diagnosis, Control echocardiography showed normal pulmonary venous and improves management and prognosis. Here, we present return without obstruction and normal heart function (Figure 1). four cases of patients with KFS and congenital heart disease, diagnosed at different age, surgical treatment and outcomes in Kosovo as a country with limited resources [4]. Presentation of the Cases Case 1 A 2- days old male infant, weighing 3.5 kilograms, was noted to have bluish discoloration over the lips and periphery, with percutaneous oxygen saturation of 75%. The baby was born in Madrid from parents refugees from Kosovo during the war 1999. He required intubation following one apneic episode. Despite being ventilated on 100% oxygen, pulse oximetry could not be raised above 80%. Hence, a prostaglandin infusion was commenced. Physical examination showed a short neck, low hairline at the back of the head, and particularly restricted mobility of the upper spine. Cardiovascular and respiratory examination was normal. An electrocardiogram showed Figure 1: Case 1: A 15-years-old boy diagnosed at delivery with Klippel-Feil syndrome. Note the short neck, low hairline and symmetric shoulders. (Scar on the tight atrial and ventricular hypertrophy. Chest X-ray showed thorax after surgical repair of total anomalous pulmonary venous return). cardiomegaly. Transthoracic echo cardiography showed conluence of the all pulmonary veins above left atrium and Case 2 draining together to the right atrium. The diagnosis of total anomalous venous return to the right atrium was conirmed. A 28-month-old girl, as the fourth child, from normal In the region of fosa ovale restrictive secundum atrial septal pregnancy and absolutely health parents, weighing 16.3 kg, defect was presented with a predominantly right-to-left shunt. during the routine pediatric examination systolic murmur was Suspicion for KFS was indication for cervical radiography and noted and for cardiological examination at tertiary level was multiple developmental anomalies of the upper cervical spine, referred. The child’s growth and development was completely consistent with Klippel-Feil syndrome. Antero posterior (AP) normal. There was no sweating or fatigue during feeding as well as lateral neutral, lexion, extension radiographs of or normal activities. Complete clinical and cardiological the cervical spine demonstrate abnormal development of the examination was obtained. Objective examination of other upper cervical spine described as follows: There is at least a children is in normal limits. During routine examination a partial fusion of C2 and C3, the ossiied portion of the dens short neck, low hairline at the back of the head and restricted is noted to be inferiorly