Case Study
Congenital complete heart block in Klippel-Feil syndrome
Asian Cardiovascular & Thoracic Annals 21(2) 199–201 ß The Author(s) 2012 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav DOI: 10.1177/0218492312449632 aan.sagepub.com
Raja Saravanan Elumalai1, Madhu Sankar Nainar2, Kirthivasan Vaidyanathan1, Ganesh Somasundaram1 and Govini Balasubramaniam2
Abstract A 36-year-old man with a short neck, low hairline, and mild kyphoscoliosis, presented with history of syncope. Chest radiography revealed a diaphragmatic hernia. Computed tomography demonstrated fusion of C2–C6 vertebral bodies, Electrocardiography indicated complete heart block. Ultrasonography showed a right pelvic kidney. He was diagnosed with Klippel-Feil syndrome and underwent permanent pacemaker implantation and corrective surgery for the congenital diaphragmatic hernia.
Keywords Congenital diaphragmatic hernia (supplemental concept), heart block, hernia, diaphragmatic, Klippel-Feil syndrome, spinal fusion
Introduction Klippel-Feil syndrome is a rare condition with varying clinical presentations, and its true incidence is unknown. The importance of recognizing KlippelFeil syndrome lies in the fact that it enables us to consider other associated anomalies that may influence the management and outcome. Patients commonly present with neurologic symptoms that may develop spontaneously or after minor trauma. They may have associated renal or cardiac abnormalities. We describe a patient with Klippel-Feil syndrome with the unusual presentation of congenital complete heart block and diaphragmatic hernia.
Case report A 36-year-old man presented to the emergency department with history of syncope with loss of consciousness lasting 2 min. General examination revealed a short neck with restricted flexion and extension, a low hairline (Figure 1), mild kyphoscoliosis, heart rate of 46 beatsmin 1 and blood pressure of 120/70 mm Hg. An electrocardiogram showed complete heart block with a narrow complex escape rhythm. He was transferred to the coronary care unit for further evaluation and management. Echocardiography showed mild left
ventricular hypertrophy with an ejection fraction of 64%. Because of the repeated episodes of syncope, a transvenous ventricular pacemaker was placed. Chest radiography disclosed a diaphragmatic hernia (Figure 2). Because there was suspicion of a cervical vertebra anomaly, a computed tomography scan of the spine was obtained, which revealed fusion of C2 to C6 vertebral bodies and posterior elements, with a normal atlantoaxial joint and no spinal cord compression or basilar invagination (Figure 3). The patient was diagnosed with Klippel-Feil syndrome. In addition, ultrasonography of the abdomen revealed a right pelvic kidney. He was advised to have permanent pacemaker implantation followed by corrective surgery for the anterior congenital diaphragmatic hernia. A dual chamber pacemaker was placed under local anaesthesia. After 48 h of being symptom-free, he underwent 1 Department of Cardiac Anesthesiology, Global Hospital and Health City, Chennai, India 2 Department of Cardiothoracic Surgery, Global Hospital and Health City, Chennai, India
Corresponding author: Raja Saravanan Elumalai, MD, DNB, Department of Cardiac Anesthesiology, Global Hospital and Health City, Chennai 600 100, India. Email: [email protected]
Downloaded from aan.sagepub.com at Bobst Library, New York University on June 22, 2015
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Asian Cardiovascular & Thoracic Annals 21(2)
Figure 2. Chest radiograph showing abdominal contents in the chest cavity, the implanted pacemaker, and scoliosis.
Figure 1. The patient’s appearance with a short neck and low hair line.
diaphragmatic hernia repair laparoscopically under general anesthesia. He was discharged after an uneventful postoperative period, and advised to avoid contact sports and recreational activities that increase the risk of head trauma. He is aware of the increased risk of sustaining a neurologic deficit after minor trauma. Because there is a possibility of progressive segmental instability with neurological compromise, he was referred for orthopedic consultation and follow-up.
Figure 3. Computed tomography scan showing fused cervical vertebrae.
Discussion Klippel-Feil syndrome is a congenital disorder characterized by the fusion of 2 or more cervical vertebrae as a result of faulty segmentation along the developing axis of the embryo during the 3rd to 8th week of gestation. Nearly 50% of patients present with the classic clinical triad of short neck, low hair line, and restricted neck motion. There are 3 variants of Klippel-Feil syndrome:1 type 1 is cervical spinal fusion in which elements of several vertebrae are incorporated into a single block; type 2 is cervical spinal fusion in which there is failure of complete segmentation at only 1 or 2 cervical levels, which may include occipitoatlantal fusion; and type 3 is type 1 or 2 fusion with coexisting segmentation errors in the lower dorsal or lumbar spine. Our patient had type 1 Klippel-Feil syndrome and the classic triad of short neck, low hair line, and restricted neck motion.2 The importance of recognizing Klippel-Feil syndrome lies in the fact that there is a strong association of this anomaly with significant abnormalities of other systems in the body, including scoliosis (60%), renal
abnormalities (35%), Sprengel deformity (30%), deafness (30%), synkinesis (20%), and congenital heart disease (14%). The most common type of renal abnormality is unilateral renal agenesis, and the most common congenital heart disease is ventricular septal defect.3,4 Our patient had a right-sided pelvic kidney; all other common anomalies were ruled out. There have been reports of anomalous origin of the left internal mammary artery in patients with Klippel-Feil syndrome, prompting imaging of the subclavian artery prior to coronary artery bypass grafting.5 The presence of subclavian artery anomalies in such patients supports the hypothesis of subclavian artery supply disruption sequence as a common pathogenesis for a number of recognized birth defects including KlippelFeil syndrome.6 Many patients with congenital complete heart block have survived into adulthood without symptoms, but there is a risk of Stoke Adams attack and sudden death with very poor predictors and prognostic signs. Despite the absence of symptoms of
Downloaded from aan.sagepub.com at Bobst Library, New York University on June 22, 2015
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complete heart block, 50% of patients will have symptoms, and nearly 10% of them will die prematurely.8 An extensive PubMed search revealed there have been very few reports of cases of Klippel-Feil syndrome with diaphragmatic hernia;7 and none were associated with congenital complete heart block. This report aims to add this unusual presentation to the list of anomalies associated with Klippel-Feil syndrome. Funding This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
Conflicts of interest statement None declared.
References 1. Samartzis DD, Herman J, Lubicky JP and Shen FH. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976) 2006; 31: E798–E804.
2. Vaidyanathan S, Hughes PL, Soni BM, Singh G and Sett P. Klippel-Feil syndrome—the risk of cervical spinal cord injury: a case report. BMC Fam Pract 2002; 3: 6. 3. Moore WB, Matthews TJ and Rabinowitz R. Genitourinary anomalies associated with Klippel-Feil syndrome. J Bone Joint Surg Am 1975; 57: 355–357. 4. Hensinger RN, Lang JE and MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am 1974; 56: 1246–1253. 5. Paul I, Badmanaban B and Campalani G. Patients with Klippel-Feil syndrome should have imaging of the subclavian artery and its branches prior to coronary artery bypass grafting. Interact Cardiovasc Thorac Surg 2007; 6: 403–404. 6. Bavinck JN and Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland Klippel-Feil, and Mobius anomalies. Am J Med Genet 1986; 23: 903–918. 7. Morgan J. A case of Klippel-Feil syndrome associated with hiatal hernia. J Laryngol Otol 1958; 72: 1004–1007. 8. Kertesz NJ, Fenrich AL and Friedman RA. Congenital complete atrioventricular block. Tex Heart Inst J 1997; 24: 301–307.
Downloaded from aan.sagepub.com at Bobst Library, New York University on June 22, 2015
Congenital complete heart block in Klippel-Feil syndrome
Asian Cardiovascular & Thoracic Annals 21(2) 199–201 ß The Author(s) 2012 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav DOI: 10.1177/0218492312449632 aan.sagepub.com
Raja Saravanan Elumalai1, Madhu Sankar Nainar2, Kirthivasan Vaidyanathan1, Ganesh Somasundaram1 and Govini Balasubramaniam2
Abstract A 36-year-old man with a short neck, low hairline, and mild kyphoscoliosis, presented with history of syncope. Chest radiography revealed a diaphragmatic hernia. Computed tomography demonstrated fusion of C2–C6 vertebral bodies, Electrocardiography indicated complete heart block. Ultrasonography showed a right pelvic kidney. He was diagnosed with Klippel-Feil syndrome and underwent permanent pacemaker implantation and corrective surgery for the congenital diaphragmatic hernia.
Keywords Congenital diaphragmatic hernia (supplemental concept), heart block, hernia, diaphragmatic, Klippel-Feil syndrome, spinal fusion
Introduction Klippel-Feil syndrome is a rare condition with varying clinical presentations, and its true incidence is unknown. The importance of recognizing KlippelFeil syndrome lies in the fact that it enables us to consider other associated anomalies that may influence the management and outcome. Patients commonly present with neurologic symptoms that may develop spontaneously or after minor trauma. They may have associated renal or cardiac abnormalities. We describe a patient with Klippel-Feil syndrome with the unusual presentation of congenital complete heart block and diaphragmatic hernia.
Case report A 36-year-old man presented to the emergency department with history of syncope with loss of consciousness lasting 2 min. General examination revealed a short neck with restricted flexion and extension, a low hairline (Figure 1), mild kyphoscoliosis, heart rate of 46 beatsmin 1 and blood pressure of 120/70 mm Hg. An electrocardiogram showed complete heart block with a narrow complex escape rhythm. He was transferred to the coronary care unit for further evaluation and management. Echocardiography showed mild left
ventricular hypertrophy with an ejection fraction of 64%. Because of the repeated episodes of syncope, a transvenous ventricular pacemaker was placed. Chest radiography disclosed a diaphragmatic hernia (Figure 2). Because there was suspicion of a cervical vertebra anomaly, a computed tomography scan of the spine was obtained, which revealed fusion of C2 to C6 vertebral bodies and posterior elements, with a normal atlantoaxial joint and no spinal cord compression or basilar invagination (Figure 3). The patient was diagnosed with Klippel-Feil syndrome. In addition, ultrasonography of the abdomen revealed a right pelvic kidney. He was advised to have permanent pacemaker implantation followed by corrective surgery for the anterior congenital diaphragmatic hernia. A dual chamber pacemaker was placed under local anaesthesia. After 48 h of being symptom-free, he underwent 1 Department of Cardiac Anesthesiology, Global Hospital and Health City, Chennai, India 2 Department of Cardiothoracic Surgery, Global Hospital and Health City, Chennai, India
Corresponding author: Raja Saravanan Elumalai, MD, DNB, Department of Cardiac Anesthesiology, Global Hospital and Health City, Chennai 600 100, India. Email: [email protected]
Downloaded from aan.sagepub.com at Bobst Library, New York University on June 22, 2015
200
Asian Cardiovascular & Thoracic Annals 21(2)
Figure 2. Chest radiograph showing abdominal contents in the chest cavity, the implanted pacemaker, and scoliosis.
Figure 1. The patient’s appearance with a short neck and low hair line.
diaphragmatic hernia repair laparoscopically under general anesthesia. He was discharged after an uneventful postoperative period, and advised to avoid contact sports and recreational activities that increase the risk of head trauma. He is aware of the increased risk of sustaining a neurologic deficit after minor trauma. Because there is a possibility of progressive segmental instability with neurological compromise, he was referred for orthopedic consultation and follow-up.
Figure 3. Computed tomography scan showing fused cervical vertebrae.
Discussion Klippel-Feil syndrome is a congenital disorder characterized by the fusion of 2 or more cervical vertebrae as a result of faulty segmentation along the developing axis of the embryo during the 3rd to 8th week of gestation. Nearly 50% of patients present with the classic clinical triad of short neck, low hair line, and restricted neck motion. There are 3 variants of Klippel-Feil syndrome:1 type 1 is cervical spinal fusion in which elements of several vertebrae are incorporated into a single block; type 2 is cervical spinal fusion in which there is failure of complete segmentation at only 1 or 2 cervical levels, which may include occipitoatlantal fusion; and type 3 is type 1 or 2 fusion with coexisting segmentation errors in the lower dorsal or lumbar spine. Our patient had type 1 Klippel-Feil syndrome and the classic triad of short neck, low hair line, and restricted neck motion.2 The importance of recognizing Klippel-Feil syndrome lies in the fact that there is a strong association of this anomaly with significant abnormalities of other systems in the body, including scoliosis (60%), renal
abnormalities (35%), Sprengel deformity (30%), deafness (30%), synkinesis (20%), and congenital heart disease (14%). The most common type of renal abnormality is unilateral renal agenesis, and the most common congenital heart disease is ventricular septal defect.3,4 Our patient had a right-sided pelvic kidney; all other common anomalies were ruled out. There have been reports of anomalous origin of the left internal mammary artery in patients with Klippel-Feil syndrome, prompting imaging of the subclavian artery prior to coronary artery bypass grafting.5 The presence of subclavian artery anomalies in such patients supports the hypothesis of subclavian artery supply disruption sequence as a common pathogenesis for a number of recognized birth defects including KlippelFeil syndrome.6 Many patients with congenital complete heart block have survived into adulthood without symptoms, but there is a risk of Stoke Adams attack and sudden death with very poor predictors and prognostic signs. Despite the absence of symptoms of
Downloaded from aan.sagepub.com at Bobst Library, New York University on June 22, 2015
Elumalai et al.
201
complete heart block, 50% of patients will have symptoms, and nearly 10% of them will die prematurely.8 An extensive PubMed search revealed there have been very few reports of cases of Klippel-Feil syndrome with diaphragmatic hernia;7 and none were associated with congenital complete heart block. This report aims to add this unusual presentation to the list of anomalies associated with Klippel-Feil syndrome. Funding This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
Conflicts of interest statement None declared.
References 1. Samartzis DD, Herman J, Lubicky JP and Shen FH. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976) 2006; 31: E798–E804.
2. Vaidyanathan S, Hughes PL, Soni BM, Singh G and Sett P. Klippel-Feil syndrome—the risk of cervical spinal cord injury: a case report. BMC Fam Pract 2002; 3: 6. 3. Moore WB, Matthews TJ and Rabinowitz R. Genitourinary anomalies associated with Klippel-Feil syndrome. J Bone Joint Surg Am 1975; 57: 355–357. 4. Hensinger RN, Lang JE and MacEwen GD. Klippel-Feil syndrome; a constellation of associated anomalies. J Bone Joint Surg Am 1974; 56: 1246–1253. 5. Paul I, Badmanaban B and Campalani G. Patients with Klippel-Feil syndrome should have imaging of the subclavian artery and its branches prior to coronary artery bypass grafting. Interact Cardiovasc Thorac Surg 2007; 6: 403–404. 6. Bavinck JN and Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland Klippel-Feil, and Mobius anomalies. Am J Med Genet 1986; 23: 903–918. 7. Morgan J. A case of Klippel-Feil syndrome associated with hiatal hernia. J Laryngol Otol 1958; 72: 1004–1007. 8. Kertesz NJ, Fenrich AL and Friedman RA. Congenital complete atrioventricular block. Tex Heart Inst J 1997; 24: 301–307.
Downloaded from aan.sagepub.com at Bobst Library, New York University on June 22, 2015
