What Are the Clinical Features of Idiopathic Infantile Nystagmus?

Patient Presentation
A 7-month-old female came to clinic with an upper respiratory illness and fever to 100.8°. The resident was concerned that the infant may also have acute otitis media. During the attending physican’s pertinent physical exam he noted right away that the patient had abnormal eye movements. He wasn’t sure exactly what the movement was so he carefully looked at the child’s eyes while examining the rest of the patient. The mother noticed that he was looking at her daughter’s eyes and offered, “She has congenital nystagmus.” “Oh, that explains it,” he remarked. The mother then told the physicians that the child was noted around the time of birth to have abnormal eye movements. “We thought she was blind, but we see the ophthalmologist who says she sees,” the mother commented. She continued, “So far she doesn’t seem to have a head turn and they say she may or may not get better with the movements of her eyes.”

The diagnosis of an upper respiratory infection without acute otitis media and congenital nystagmus was made. After the visit, the resident physician said that he had seen the eye movements but had forgotten to mention them during his presentation to the attending. The attending said that he didn’t know much about congenital nystagmus and would have to review it.

Discussion
Nystagmus is “…an involuntary, periodic eye movement caused by a slow drift of fixation. This drift may be followed by a fast refixation saccade…or a slow movement back to fixation….” The pathological movement is the slow phase, but nystagmus is described by the fast phase (i.e. horizontal nystagmus, vertical nystagmus). Both eyes usually move synchronously. Patients may turn or tilt their heads to improve visual acuity.

Nystagmus is categorized into 3 groupings – physiologic such as gaze evoked, caloric or opto-kinetic nystagmus, acquired such as neurological or ophthalmological diseases, or infantile nystagmus. Infantile is sometimes referred to as congenital because the onset occurs at birth or during infancy.

Full opthalmological evaluation of nystagmus or other abnormal eyes movements is appropriate as is the necessary followup. Warning signs include neurological signs such as nausea, vertigo or any focal defects, onset age after 4 months, asymmetric nystagmus, focal ophthalmological signs such as papilledema or pupillary defects, oscillopsia (i.e. visual field objects appear to oscillate), nystagmus that is asymmetric, and preserved opto-kinetic nystagmus (i.e. nystagmus induced by looking at objects moving across the visual field). These signs are more consistent with an acquired nystagmus and not infantile nystagmus.

Learning Point
Prevalence of infantile nystagmus is difficult to ascertain but studies have estimated it to be 1:1000 – 1:3000 in some studies and up to 17:10,000 in another. Infantile nystagmus has 4 types: idiopathic (see below), ocular nystagmus associated with albinism and ophthalmological malformations, latent type nystagmus occurring with esotropia, and spasmus nutans that appears later (6-12 months) has head nodding and disappears after 1-2 years.

Idiopathic infantile nystagmus presents in the first 6 months of life, but usually in the first 3-4 months. It has a low to medium frequency often horizontal in position but may have occasional torsional or vertical components. Its character may change with gaze position and increase with fixation and reading small print. A null gaze point may also be present. A null gaze point is an eye position where the nystagmus is much improved. Patients will often tilt or turn their head to maintain their eyes in this position to improve their visual acuity. Idiopathic infantile nystagmus does not abate but generally has improved amplitude over the first couple of years.

The genetics of infantile idiopathic nystagmus has mainly autosomal dominant and X-linked forms. Although it cannot be cured, treatment with magnifying visual aids and eye muscle surgery (for head posture or null gaze point improvement) may be helpful.

Questions for Further Discussion
1. Describe how to peform a screening eye examination on an infant?
2. What are the indications for evaluation by an ophthalmologist for an infant?
3. What is the difference between nystagmus and ocular motor apraxia? Click here
4. What are indications for neuroimaging with nystagmus?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Eye Movement Disorders.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Abel LA. Infantile nystagmus: current concepts in diagnosis and management. Clin Exp Optom. 2006 Mar;89(2):57-65.

Felius J, Fu VL, Birch EE, Hertle RW, Jost RM, Subramanian V. Quantifying nystagmus in infants and young children: relation between foveation and visual acuity deficit. Invest Ophthalmol Vis Sci. 2011 Nov 7;52(12):8724-31.

Ehrt O. Infantile and acquired nystagmus in childhood. Eur J Paediatr Neurol. 2012 Nov;16(6):567-72.

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • When In Rome Use the Criteria

    Patient Presentation
    A 7-year-old male came to clinic with a 3 month history of abdominal pain. The pain occurred at least weekly on different days of the week including the weekend. It occurred during the day and evening but never when asleep. He described it as “just hurting” around his umbilicus without radiation. It was never a sharp pain. He stooled daily or every other day and said that they were “normal” but no one else had seen them. They did not clog up the toilet and he denied blood or mucous in the stools. There was no nausea, emesis, diarrhea, belching, bloating or abnormal tastes in his mouth or throat. The mother stated that sometimes he seemed to have more flatus. The episodes lasted at least 1 hour and during that time he didn’t want to play and would lay down. His mother was worried because “this just seems to happen out of the blue and has been happening more recently. This week he has had it 3 times.” Travel history was negative. He drank public water and had no exposures to animals. The past medical history showed constipation and stool witholding behaviors around the time of toilet training. The family history was positive for occasional abdominal pain in his mother and other maternal relatives without specific diagnoses. There was a paternal adult cousin who “had an ulcer.” The review of systems was negative including no weight loss, fevers, rashes, joint pain, ulcers or urinary symptoms.

    The pertinent physical exam showed a well-appearing male who was slightly apprehensive. His weight was 25%, and height was 75% with normal growth velocity. There was no weight loss compared to a sick visit 2 months previously. The abdominal examination showed a soft abdomen that was non-tender without hepatosplenomegaly or masses. His genitourinary examination showed a normal circumcised male with normal cremasteric reflexes. He rectum had a normal anal wink and no fissures or other skin problems were noted. The rest of his examination was negative.

    The diagnosis of probable functional abdominal pain was made. The resident physician discussed the patient with the attending and noted that this was most likely functional abdominal pain and had heard of criteria for its diagnosis but was unsure what they were. Together the attending and resident briefly reviewed the Rome III criteria for functional gastrointestinal disorders and felt he met the criteria for functional abdominal pain, although he had not had any laboratory testing to rule out “inflammatory, anatomic, metabolic, or neoplastic process” yet. His history was not consistent with any of these abnormalities. The resident and attending physician discussed the diagnosis and plan with the family. The mother understood but felt reassured that basic laboratory testing would be done (and eventually were negative). She also said that he was always a little anxious and felt that talking with the school counselor may be helpful to him. The patient’s clinical course after 6 weeks of increased fiber intake, talking with the school counselor and parental encouragement of normal activities showed that he was improving. His symptoms had only occurred twice and his repeated physical examination again showed no evidence of an organic problem.

    Discussion
    Functional gastrointestinal diseases are very common problems throughout the lifespan. Estimates vary but around 13-38% of children and adolescents have weekly abdominal pain and 24% have chronic abdominal pain that last more than 8 weeks. Chronic abdominal pain was extensively studied by John Apley in the 1950′s and since then newer criteria have been developed for distinguishing various types of abdominal pain. See Learning Point below.

    A thorough history and physical examination is needed to distinguish these different types of abdominal pain and to evaluate for organic causes. Warning signs of potential organic disease includes:

    • Growth problems and unintentional weight loss
    • Significant GI complaints including emesis, diarrhea and blood in the stool
    • Pain that is not periumbilical (or radiates) or pain at night
    • Systemic symptoms – fever, rash, joint pain, urinary symptoms, apthous ulcers
    • Family history of gastrointestinal organic disease – inflammatory bowel disease, ulcer, celiac disease
    • Abnormal laboratory testing – elevated inflammatory markers, anemia, etc.

    Basic laboratory testing may include a basic metabolic panel, complete blood count, C-reactive protein or erythrocyte sedimentation rate, urinalysis and urine culture and stool guaiac. Additional testing may be indicated based on the patient’s history such as stool for ova and parasites with a history of travel or animal exposure, stool C. difficile after antibiotics or breath hydrogen testing for possible malabsorption.

    A thorough history, physical examination and basic laboratory testing screens out about 95% of organic pathology. The cause of functional abdominal pain is not entirely understood, but appears to be multimodal – physiological including inflammation and motility issues, psychological including stress and support and genetics. Quality of life is decreased in patients with functional abdominal pain, but many patients do well over time with many having resolution of symptoms in a few weeks to 2 years, and most having improvement in psychosocial functioning.

    Multimodal treatment is needed to address functional abdominal pain. The physican-patient-family interaction should be supportive. Physicans can help by encouraging positive attitude towards improving coping with symptoms and maintenance of normal daily living activities. Physicians need to educate families that prompt cure is not realistic and symptom improvement will be gradual. Psychosocial interventions such as cognitive behavioral therapy, guided imagery and relaxation techniques has shown to help improve symptoms. Family therapy to help parents assist their children with improved coping strategies also is helpful. Medication trials have had mixed results including fiber, probiotics, anti-spasmotics, antidepressants, prokinetic agents, acid suppressants, complementary and alternative medications, and restrictive diets. Because of mixed results, some experts will consider using fiber and/or probiotics as relatively benign treatments because there are usually few contraindications to their use and few side effects, and are relatively inexpensive and easy to use.

    Learning Point
    The Rome III Criteria for abdominal pain-related functional gastrointestinal disorders are:

    • Childhood Functional Abdominal Pain
      • Criteria fulfilled at least once per week for at least 2 months prior to diagnosis
      • Must include all of the following:
        • Episodic or continuous abdominal pain
        • Insufficient criteria for other functional gastrointestinal disorders
        • No evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the subject’s symptoms

    • Irritable Bowel Syndrome
      • Criteria fulfilled at least once per week for at least 2 months prior to diagnosis
      • Must include both of the following:
        • Abdominal discomfort (meaning an uncomfortable sensation not described as pain) or pain associated with two or more of the following at least 25% of the time:
          • Improvement with defecation
          • Onset associated with a change in frequency of stool
          • Onset associated with a change in form (appearance) of stool
        • No evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the subject’s symptoms

    • Functional Dyspepsia
      • Criteria fulfilled at least once per week for at least 2 months prior to diagnosis
      • Must include all of the following:
        • Persistent or recurrent pain or discomfort centered in the upper abdomen (above the umbilicus)
        • Not relieved by defecation or associated with the onset of a change in stool frequency or stool form (i.e., not irritable bowel syndrome)
        • No evidence of an inflammatory, anatomic, metabolic or neoplastic processthat explains the subject’s symptoms

    • Abdominal Migraine
      • Criteria fulfilled two or more times in the preceding 12 months
      • Must include all of the following:
        • Paroxysmal episodes of intense, acute periumbilical pain that lasts for 1 hour or more
        • Intervening periods of usual health lasting weeks to months
        • The pain interferes with normal activities
        • The pain is associated with 2 of the following:
          • Anorexia
          • Nausea
          • Vomiting
          • Headache
          • Photophobia
          • Pallor
        • No evidence of an inflammatory, anatomic, metabolic, or neoplastic process considered that explains the subject’s symptoms

    Questions for Further Discussion
    1. What is included in the differential diagnosis of chronic abdominal pain?
    2. How does cognitive behavioral therapy work?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Abdominal Pain.

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    To view videos related to this topic check YouTube Videos.

    Rome Foundation Inc. Appendix A: Rome III Diagnostic Criteria for Functional Gastrointestinal Disorders. Available from the Internet at http://www.romecriteria.org/assets/pdf/19_RomeIII_apA_885-898.pdf (rev. 2006, cited 4/23/2013).

    Ammoury RF, Pfefferkorn Mdel R, Croffie JM. Functional gastrointestinal disorders: past and present. World J Pediatr. 2009 May;5(2):103-12.

    Chiou E, Nurko S. Management of functional abdominal pain and irritable bowel syndrome in children and adolescents. Expert Rev Gastroenterol Hepatol. 2010 Jun;4(3):293-304.

    Ringel Y, Ringel-Kulka T. The rationale and clinical effectiveness of probiotics in irritable bowel syndrome. J Clin Gastroenterol. 2011 Nov;45 Suppl:S145-8.

    Quigley EM, Abdel-Hamid H, Barbara G, Bhatia SJ, Boeckxstaens G, De Giorgio R, Delvaux M, Drossman DA, Foxx-Orenstein AE, Guarner F, Gwee KA, Harris LA, Hungin AP, Hunt RH, Kellow JE, Khalif IL, Kruis W, Lindberg G, Olano C, Moraes-Filho JP, Schiller LR, Schmulson M, Simren M, Tzeuton C.
    A global perspective on irritable bowel syndrome: a consensus statement of the World Gastroenterology Organisation Summit Task Force on irritable bowel syndrome. J Clin Gastroenterol. 2012 May-Jun;46(5):356-66.

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    6. Information technology to support patient care decisions and patient education is used.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
    15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.

  • Interpersonal and Communication Skills
    17. A therapeutic and ethically sound relationship with patients is created and sustained.

  • Systems Based Practice
    23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
    24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • What are the Recommendations for Neuromaging Because of Headaches?

    Patient Presentation
    A teenage male came to clinic with a history consistent with the diagnosis of new onset migraine headache with visual aura. Although several family members had common migraine headaches none had aura and this distressed both the patient and family members. The family wanted neuroimaging but his pediatrician wasn’t sure which modality to order. His pediatrician asked a colleague if she knew what the guidelines for neuroimaging were. The colleague did a search of the National Guidelines Clearinghouse and found two guidelines. After review and discussion with the family the pediatrician did not want to order imaging and the family was very unhappy with this. The teenager was seen the next day in a local emergency room where a magnetic resonance imaging (MRI) examination of his head was normal.

    Discussion
    Headaches are not only painful but can significantly affect the lives of patients and families. Education and support for patients is key to managing headaches. Detailed diaries not only help with initial diagnosis but also chronic management.

    Common headache types include:

    • Tension headache
      • Location – bilateral
      • Intensity – mild or moderate
      • Description – non-pulsating tightening or pressure
      • Activities – not aggravated by usual activities
      • Duration – 30 minutes – continuous
      • Frequency – 15 days per month for more than 3 months for chronic tension headache
      • Treatment – acute – analgesics, chronic – acupuncture
    • Migraine with aura (classic migraine)
      • Location – uni- or bilateral
      • Intensity – moderate or severe
      • Description – pulsating, banging or throbbing
      • Activities – aggravated by usual activities, may cause people to avoid usual activities
      • Duration – 1-72 hours in teens, 4-72 hours in adults, symptoms develop gradually over at least 5 minutes and all symptoms are fully reversible.
      • Frequency – 15 days per month for more than 3 months for chronic migraine
      • Miscellaneous – the aura can occur with or without the headache, occurs with sensory sensitivity including including visual (i.e. flicking lights, spots, partial visual loss), sounds (hyperacousis), touch (i.e. numbness, tingling, pins and needles), speech (i.e. speech disturbance or loss), nausea and emesis also occur
      • Treatment – acute – analgesics, triptans, sleep, prophylaxis – propanolol, toprimate, gabpentin, acupuncture, riboflavin
    • Migraine without aura (common migraine)
      • Location – uni- or bilateral
      • Intensity – moderate or severe
      • Description – pulsating, banging or throbbing
      • Activities – aggravated by usual activities, may cause people to avoid usual activities
      • Duration – 1-72 hours in teens, 4-72 hours in adults,
      • Frequency – 15 days per month for more than 3 months for chronic migraine
      • Miscellaneous – often has nausea, emesis, and may have sensitivity to sound and light
      • Treatment – acute – analgesics, triptans, sleep, prophylaxis – propanolol, toprimate, gabpentin, acupuncture
    • Cluster headache
      • Location – unilateral usually around eye
      • Intensity – severe to very severe
      • Description – variable descriptions include boring, burning, sharp, throbbing or tightening
      • Activities – agitated
      • Duration – 15 minutes – 3 hours
      • Frequency – 1 every other day to 8 per day with remission between episodes of > 1 month for episodic cluster headache, 1 every other day to 8 per day with remission between episodes of < 1 month in a 12 month period for chronic cluster headache
      • Miscellaneous – on same side as headache eye changes (red/watery eye, constricted pupil, swollen or drooping lid,) nose changes (i.e. rhinitis) or facial changes (i.e. facial swelling)
      • Treatment – acute – oxygen and triptan, prophylaxis – verapamil
    • Medication overuse
      • Location – uni or bilateral
      • Intensity – mild to severe
      • Description – non-pulsating tightening or pressure
      • Activities – not aggravated by usual activities
      • Duration – 30 minutes to continuous
      • Frequency – almost daily
      • Miscellaneous – common history is headache began or worsened while taking various medication for more than 3 months including analgesics, triptans, opiods, ergots or combinations of them. As the treatment is withdrawal (acute not gradual is recommended) headache will usually get worse before better.

    Treatment depends on many factors and those listed above may or may not be appropriate for different ages and specific patients.

    Learning Point
    Neuroimaging is not recommended for most types of headaches. The National Clinical Guideline Center in the United Kingdom states: “Do not refer people diagnosed with tension-type headache, migraine, cluster headache or medication overuse headache for neuroimaging solely for reassurance.” The first episode of cluster headache may warrant imaging but discussion with a neurologist or other headache specialist is recommended.

    American College of Radiology Appropriateness Criteria for headache in a child includes the following recommendations:

    1. Primary headache including tension headache, migraine with and without aura, and cluster headache

    For those headaches that the patient has no neurological findings or signs of increased intracranial pressure, the patient is normal in between headaches with return to baseline status, and patient is not having progression of headache, then no neuroimaging is recommended. The guideline specifically states: “no imaging is indicated for typical migraine.” For other variations of primary headache such as ophthalmological migraine with focal neurological signs, confusional migraine, progressive chronic headache, hemiplegic migraine, patients with seizures and postictal headache then MRI is recommended. For secondary headaches without neurological symptoms such as referred pain from other structures, metabolic abnormalities, medication withdrawal headache, etc., neuroimaging is not recommended.

    2. Headache with positive neurological signs or signs of increased intracranial pressures

    If there is a concern for brain tumor then MRI of the brain with and without contrast is recommended. If cranial infection is suspected, CT is recommended for possible meningitis or encephalitis before performing lumbar puncture. Depending on pathology suspected and previous imaging other imaging modalities may be indicated. If trauma is suspected then CT or MRI should be considered.

    3. Abrupt onset of high intensity headache (thunderclap) suggesting vascular rupture

    For thunderclap headache – CT without contrast is recommended. If there is a first degree relative with known vascular pathology, MRI or MRA is recommended. Depending on pathology suspected and previous imaging, other imaging modalities may also be indicated.

    Questions for Further Discussion
    1. What are indications for referral to a neurologist for headaches?
    2. What are indications for consultation with a radiologist?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for these topics: Headache, CT Scans and MRI Scans.

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    To view videos related to this topic check You Tube Videos.

    Hayes LL, Coley BD, Karmazyn B, Dempsey-Robertson ME, Dillman JR, Dory CE, Garber M, Keller MS, Kulkarni AV, Meyer JS, Milla SS, Myseros JS, Paidas C, Raske ME, Rigsby CK, Strouse PJ, Wootton-Gorges SL, Expert Panel on Pediatric Imaging. ACR Appropriateness Criteria headache – child. [online publication]. Reston (VA): American College of Radiology (ACR); 2012. 8 p. [41 references]

    National Clinical Guideline Centre. Headaches: diagnosis and management of headaches in young people and adults. London (UK): National Institute for Health and Clinical Excellence (NICE); 2012 Sep. 38 p.(Clinical guideline; no. 150). 

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    6. Information technology to support patient care decisions and patient education is used.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
    14. Knowledge of study designs and statistical methods to appraisal clinical studies and other information on diagnostic and therapeutic effectiveness is applied.
    15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.

  • Professionalism
    21. A commitment to ethical principles pertaining to provision or withholding of clinical care, confidentiality of patient information, informed consent, and business practices are demonstrated.

  • Systems Based Practice
    23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
    24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • What Are Indications for Pediatric Pacemakers?

    Patient Presentation
    A third year medical student was rotating on her general pediatric clerkship and saw a toddler with an atrial septal defect that had closed. A conversation regarding congenital heart disease with her attending ensued. She said, “When I was doing internal medicine I had several patients that had pacemakers. I know kids can get pacemakers but what are the indications? In adults it’s usually heart failure.” The attending said he wasn’t entirely sure but general categories would include arrhythmias that needed pacing, heart failure, and probably for transitions to other care such as after heart surgery or as a bridge to transplant. The medical student did a PUBMED search and found a couple articles that she shared with the attending pediatrician.

    Discussion
    More pediatric patients are having cardiac pacemakers and implantable cardioverter defibrillators (ICDs) placed because the devices are becoming smaller and are technically feasible plus the surgical complexity of patients also keeps increasing. Pacemakers have an impulse generator and leads. The leads can be placed uni- or bilaterally and are attached to the endo- or epicardium. The generator is placed in the left pectoral area. Complications include lead dislodgement or breakage, and inappropriate shocks. Other problems include need for lead or generator revisions, lifestyle modifications, and cosmetic changes. ICDs are like pacemakers but can also defibrillate tachyarrhythmias.

    Patients and families of children with pacemakers and ICDs demonstrated decreased quality of life scores compared to healthy controls and also patients with congenital heart disease (CHD) without the devices. For patients with pacemakers, self-perception is the main element in the lower quality of life.

    Learning Point
    Indications for pacemaker implantation from the American Heart Association:

    • Class I – Pacemaker implantation indicated
      • Advanced second/third-degree AV block with symptomatic bradycardia, ventricular dysfunction, or low cardiac outputs or that persists at least 7 days postcardiac surgery
      • Symptomatic age-inappropriate sinus bradycardia
      • Congenital third-degree AV block with wide QRS, complex ventricular ectopy, or ventricular dysfunction
      • Congenital third-degree AV block in an infant with HR < 55 beats/minute or <70 beats/minute in infants with CHD
    • Class IIa: Pacemaker implantation reasonable
      • Patients with CHD, sinus bradycardia and intra-atrial reentry tachycardia
      • Asymptomatic sinus bradycardia in child with complex CHD with resting HR 3 seconds
      • Patient with CHD and impaired hemodynamics because of sinus bradycardia and loss of AV synchrony
      • Unexplained syncopy with repaired CHD patient complicated by transient AV block with residual fasicular block
    • Class IIb: Pacemaker implantation may be considered
      • Transient postop AV block that reverts to sinus rhythm with residual bifasicular block
      • Congenital third-degree AV block in asymptomatic child/adolescent with acceptable rate, narrow QRS complex, and normal venticular function
      • Asymptomatic sinus bradycardia after biventricular repair of CHD with resting HR 3 seconds
    • Class III: Pacemaker implantation not effective/contraindicated
      • Transient postop AV block that reverts to normal AV conduction
      • Asymptomatic Type 1 AV block
      • Asymptomatic sinus bradycardia in adolscent with resting HR > 40 beats/minute and longest R-R interval < 3 seconds
      • Asymptomatic postop bifasicular block in the absense of transient complete AV block”

    Questions for Further Discussion
    1. What are indications for ICD implantation?
    2. What are the causes of syncope?
    3. What is familiar long QT syndrome and what treatments are available?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Pacemakers and Implantable Defibrillators

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    To view videos related to this topic check YouTube Videos.

    Epstein AE, DiMarco JP, Ellenbogen KA, et al. American College of Cardiology/American Heart Association Task Force on Practice Guidelines. 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities. J Am Coll Cardiol. 2008;51(21):e1-e62.

    Villain E. Indications for pacing in patients with congenital heart disease. Pacing Clin Electrophysiol. 2008 Feb;31 Suppl 1:S17-20.

    van Geldorp IE, Vanagt WY, Prinzen FW, Delhaas T. Chronic ventricular pacing in children: toward prevention of pacing-induced heart disease. Heart Fail Rev. 2011 May;16(3):305-14.

    Navaratnam M, Dubin A. Pediatric pacemakers and ICDs: how to optimize perioperative care. Paediatr Anaesth. 2011 May;21(5):512-21.

    ACGME Competencies Highlighted by Case

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
    14. Knowledge of study designs and statistical methods to appraisal clinical studies and other information on diagnostic and therapeutic effectiveness is applied.
    15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.
    16. Learning of students and other health care professionals is facilitated.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital