Should We Worry About Bicuspid Aortic Valve?

Patient Presentation
A 2-year-old female came to clinic for her first health supervision visit to the clinic. The past medical history was positive for otitis media twice and general upper respiratory illnesses. Her neonatal course was unremarkable. The father described the family history as positive for some type of heart problem where there was only two parts of the heart valve when there should be three. He had the problem and was asymptomatic, but his father had needed surgery for the same problem when he was around 70 years old. When asked if this was a bicuspid aortic valve, the father said he thought so but he wasn’t sure.

The pertinent physical exam revealed a precocious 2 year old with normal vital signs, including her blood pressure. Her cardiac examination showed a normal rate and rhythm with no murmurs and no neck bruits, along with good peripheral pulses in upper and lower extremities. The rest of her examination was normal.

The diagnosis of a healthy 2 year old was made. The parents said that her previous physician also felt she was normal, but that when she was old enough to not need sedation for an echocardiogram, that one should probably be done because of the family history. The physician agreed with this idea as the child was doing well with a normal physical examination. The physician helped parents to identify new primary care providers for them and asked for the father to send the last report from his previous doctor about his heart condition. “If this is a bicuspid aortic valve, it usually is okay, but it does need to be followed. As you see from your own father there can be problems with it. She may be able to do the echocardiogram in another year or so, but it will depend on if she can lie still. If she seems to be having any problems before then though, we always can do the test sooner,” he said.

Discussion
The aortic valve usually has 3 leaflets. In bicuspid aortic valve (BAV) there are 2 asymmetric leaflets with a fish-mouthed orifice between them which may not open fully. It occurs in about 0.5-2% of the population making it one of the most common congenital heart anomalies and the most common one in adults. Transmission is autosomal dominant yet males are more likely to have BAV, indicating potential reduced penetrance in females. “BAVs are different, however, in that the tissue pathology is not limited to the valves’ leaflets but extends from the left ventricular outflow tract to the ascending thoracic aorta” and therefore can be associated with other congenital heart disease. With BAV, a murmur may be heard which classically is a grade 1-2/6 systolic ejection murmur best at the right upper sternal border associated with an early systolic click. BAV may not be clinically apparent though.

Learning Point
BAV is usually considered a benign condition as it may not cause any problems. However as patients age, BAV does have an increased risk of aortic valve stenosis (AVS) and/or aortic valve insufficiency (AVI), calcification of the leaflets, aortic root dilatation, aortic aneurysm, aortic dissection and can also be a nidus for infective endocarditis. AVS is associated with BAV in 70-85% of pediatric patients and about 50% of adult patients. AVS can cause left ventricular outlet obstruction with compensatory ventricular hypertrophy and potentially cause ischemia or ventricular failure. Congenital AVS usually presents in the neonatal period and is more severe and more progressive.

A 2014 prospective study of pediatric patients in a cardiology clinic (N=179, ages 2.7-11 years) identified with isolated BAV were followed for 5 years. This medium-term follow-up found that the clinical course was favorable or benign for almost all of the patients, with only 4 progressing to the point of needing intervention such as valve replacement or dilatation. Some other patients did have some progression to mild forms of AVS or AVI.

Patients with first degree relatives with BAV are recommended to be screened for BAV with an echocardiogram with attention being paid to the aorta because of the potential for associated aortic pathology.

Questions for Further Discussion
1. What are the most common cyanotic congenital heart diseases and when do they present? A review can be found here
2. What are causes of sudden cardiac and non-cardiac death in pediatric and adolescent patients? A review can be found here
3. What other valvular heart disease is common in children?

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 and the Cochrane Database of Systematic Reviews.

Bruckner BA, Reardon MJ. Bicuspid aortic valve and associated aortopathy: surgical considerations. Methodist DeBakey Cardiovasc J. 2010;6(1):29-32.

Eroglu AG, Atik SU, Cinar B, Bakar MT, Saltik IL. Echocardiographic Follow-Up of Congenital Aortic Valvular Stenosis II. Pediatr Cardiol. 2018;39(8):1547-1553. doi:10.1007/s00246-018-1928-2

Morosin M, Leonelli V, Piazza R, et al. Clinical and echocardiographic predictors of long-term outcome of a large cohort of patients with bicuspid aortic valve. J Cardiovasc Med Hagerstown Md. 2017;18(2):74-82. doi:10.2459/JCM.0000000000000430

Spaziani G, Ballo P, Favilli S, et al. Clinical outcome, valve dysfunction, and progressive aortic dilation in a pediatric population with isolated bicuspid aortic valve. Pediatr Cardiol. 2014;35(5):803-809. doi:10.1007/s00246-013-0856-4

Borger MA, Fedak PWM, Stephens EH, et al. The American Association for Thoracic Surgery consensus guidelines on bicuspid aortic valve – related aortopathy: Full online-only version. J Thorac Cardiovasc Surg. 2018;156(2):e41-e74. doi:10.1016/j.jtcvs.2018.02.115

Nishimura RA, Otto CM, Bonow RO, et al. 2014 AHA/ACC guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. J Thorac Cardiovasc Surg. 2014;148(1):e1-e132. doi:10.1016/j.jtcvs.2014.05.014

Aortic Valve Disease 1; AOVD1. Number 109730. Online Mendelian Inheritance in Man. https://www.omim.org/entry/109730. Updated 7/9/19, cited 10/15/19.

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Who Self-Harms?

Patient Presentation
A pediatrician got a telephone call about a 15-year-old male who he had been following for several years. The youth was last seen 9 months previously and had been healthy. There had been previous discussions about interpersonal problems such as a playground fight, having difficulty accepting authority such as referee decisions at a soccer match, and having more problems calming down when he was agitated. These were considered sporadic and minor incidents. His mother noticed bandaids on his wrist and asked him about it the previous evening. He confessed that he had started cutting himself 2-3 times over the past few weeks. She said that he expressed that he didn’t like himself very much because he would be angry at other people when he knew that it really wasn’t a big deal. He said he felt like he was going to explode at someone, but knew it was wrong, so he hid his anger until later. Later he felt really bad about the incident and did the cutting. She said he felt bad about doing the cutting too because he knew he shouldn’t be doing it. She had asked about him feeling very anxious about other things or feeling depressed. He said he felt a bit of both, but had no intention or plans of suicide.

The diagnosis of a teenager with self-harm behaviors and mental stress and anger issues was made. The teen was at school at the time and pediatrician discussed a safety plan with the mother. He also contacted a local youth mental health agency that provided emergency mental health screening and therapy referrals that afternoon.

The patient’s clinical course over the next few months, found him doing well in his therapy without additional episodes of self-harm. He also decided to use an anti-depressant medication in addition to his therapy. The following spring he was weaned off of the medication, denied any more self-harm episodes and had learned additional ways to manage his anger better. He was continuing his therapy monthly.

Discussion
IF YOU ARE IN A CRISIS SITUATION AND NEED HELP, call 1(800) 273-TALK(8255) there IS someone there who can help you, En Espanol 1-888-628-9454, or Text “HOME” to 741-741. Other resources are available at http://www.suicidepreventionlifeline.org

Non-suicidal self-injury (NSSI) is defined as the intentional, self-inflicted damage to the surface of the body without suicidal intention, which is not socially sanctioned[,]” such as piercing or tattooing. Examples of NSSI include self-cutting (70-97%), hitting (21-44%), burning (15-35%), scratching, banging, scraping or carving.

The prevalence is increasing with more awareness and definition. In the beginning of the 1980s, the prevalence was 0.4% and increased to 0.75% by the end of the decade. About 4% is cited as a general population statistic, but rates are highly dependent on the age and population. Prevalence rates currently are estimated to be around 14-18% of adolescents with at least 1 incident in their lifetimes of “self-harm” or “self-mutilation.” Rates for adolescents meeting proposed criteria for NSSI by the DSM-V are lower at 1.5-6.7%. Other studies cite 13-45% of adolescents and 5-35% of young adults. It is unusual in childhood. NSSI is more common in 12-16 year olds and decreases after that time.

Self-harm episodes are not usually impulsive episodes but are often planned to take place when the person is alone and experiences negative ideas or emotions. “Paradoxically, most people who self-harm report feeling little or no pain during the self-injury. This phenomenon, which sometimes makes it more difficult to treat NSSI, is related to a process of habituation or to the release of endorphins…”

NSSI is associated with psychiatric diagnoses including borderline personality disorder, anxiety disorder, major depressive disorder, post-traumatic stress disorder, and substance abuse for example. A diagnosis of NSSI does not necessarily imply another psychiatric disorder. There is a high co-occurrence of borderline personality disorder (BPD) and NSSI. “The results suggest that 52% of adolescents who meet the criteria for a diagnosis with NSSI also have BPD, while 78% of individuals with BPD also meet the criteria for NSSI….[W]hile NSSI is a robust predictor of BPD, they are independent entities.” “NSSI is also the most robust risk factor for future suicide attempts (e.g. more than the presence of depressive symptomatology or family problems).”

NSSI is currently in Group III of the DSM-V which is for emerging measures and models. Additional research is encouraged for these potential disorders. There are models for the reasons or functionality for self-harm which use different measures in research. The Inventory of Statements about Self-Injury looks at intrapersonal (i.e. affect regulation, anti-dissociation, anti-suicide, marking distress and self-punishment) factors as well as interpersonal factors (i.e. interpersonal boundaries or influence, sensation seeking, peer bonding, revenge, self-care and toughness).

Repetitive self-harm is more likely with minor self-cutting but can be found with any type of self-injury. People with repetitive self-harm are more likely to have emotional dysregulation even after stopping the behavior.

Cognitive behavioral therapy, dialectical behavior therapy and acceptance and commitment therapy have been used to treat NSSI and a brief review of these different treatment options can be found by Thabrew et.al. in To Learn More below.

Learning Point
“In summary adolescent age, female gender, social or media contact with NSSI, bullying, and adverse child experiences like emotional abuse or neglect seem to be major risk factors for the development of NSSI. Findings from neurobiological studies point towards abnormalities in the [hypothalamic-pituitary adrenocortical] axis, the endogenous opioid system, as well as the neural processing of emotionality, socially, or physically adverse stimuli.” (author’s emphasis). A former history of NSSI, more cluster B personality traits, hopelessness and non-heterosexual sexual orientation are also strong risk factors.

Questions for Further Discussion
1. What are some of the major personality disorders?
2. How are mood disorders treated?
3. What should be included in a mental health safety plan? A review can be found here

Related Cases

    Disease: Self Harm | Non-Suicidal Self-Injury

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 and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Self Harm

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.

Thabrew H, Gandeza E, Bahr G, et al. The management of young people who self-harm by New Zealand Infant, Child and Adolescent Mental Health Services: cutting-edge or cutting corners? Australas Psychiatry Bull R Aust N Z Coll Psychiatr. 2018;26(2):152-159. doi:10.1177/1039856217748248

Brown RC, Plener PL. Non-suicidal Self-Injury in Adolescence. Curr Psychiatry Rep. 2017;19(3):20. doi:10.1007/s11920-017-0767-9

Vega D, Sintes A, Fernandez M, et al. Review and update on non-suicidal self-injury: who, how and why? Actas Esp Psiquiatr. 2018;46(4):146-155.

Cully G, Corcoran P, Leahy D, et al. Method of self-harm and risk of self-harm repetition: findings from a national self-harm registry. J Affect Disord. 2019;246:843-850. doi:10.1016/j.jad.2018.10.372

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

What Is the Classic Clinical Presentation of Pericarditis?

Patient Presentation
A 10-year-old male was brought by ambulance from his local doctor’s for worsening chest pain and suspected pericarditis or myocarditis. He had a 3 day history of mild cough, rhinorrhea and fever. On the day of admission his fever spiked to 103.8°F and he started to complain of left sided chest pain that was worsening. His mother said the cough was getting slightly worse and he seemed more tired but more agitated at the same time. He refused to lie down and asked to go to the doctor. The local physician heard a pericardial rub and referred him to the emergency department. The past medical history was normal. The family history had no significant cardiac history.

The pertinent physical exam showed a wide-eyed school ager, who was sitting up on the gurney. His blood pressure was 124/78, pulse of 118, respiratory rate of 32 with an oxygen saturation of 98%. He endorsed chest pain in the precordial area without radiation. Capillary refill was brisk. His HEENT showed mild pharyngitis and rhinorrhea. His cardiac examination showed no obvious murmur with a normal S1 and S2. He had a pericardial friction rub but no jugulovenous distension or hepatomegaly. Peripheral pulses were brisk.

The diagnosis of presumed pericarditis was made. The radiologic evaluation of a chest radiograph showed no cardiac silhouette enlargement. His electrocardiogram had mild ST segment elevation changes. His cardiac enzymes were normal. A cardiologist was consulted who also performed an echocardiogram which showed mild pericardial effusion and normal cardiac structures, movement and ejection fractions. She agreed with the diagnosis and the patient was admitted. He was monitored closely and his fever curve slowly decreased over the next 4 days. He slowly also started to feel better and was discharged on day 6. The laboratory evaluation was positive for adenovirus.

Discussion
The pericardium is a bi-layered membrane that envelops the heart and provides a barrier to prevent disease and also decreases friction as the heart moves. Pericarditis is the inflammation of pericardium. The incidence is underreported as asymptomatic or mild disease may go unrecognized. From hospitalized patient data, 0.2-5% of patients with various cardiac disease had pericarditis. An incidence rate for hospitalizations of 3.32 per 100,000 person years has been cited. Percarditis occurs more often in adolescent males.

Treatment of the underlying cause or suspected cause is important, along with close monitoring for worsening effusion and/or other worsening physical examination signs. Nonsteroidal anti-inflammatory medications are helpful to decrease pain and to reduce inflammation. Colchicine is used for recurrent pericarditis which can occur in up to 10% of patients. Steroid therapy is used usually when there is an underlying systemic inflammatory disease. Other options include azothioprine, anakinra or intravenous immunoglobulins.

In the developed world viral etiology or presumed viral etiology are 80-90% of cases. Worldwide tuberculosis is the most common cause and is associated with a high incidence of co-infection with human immunodeficiency virus. Viruses, bacteria, fungi, protozoa, autoimmune, neoplastic, metabolic and drugs can cause pericarditis. In the developed world the causes of pericarditis are similar to myocarditis which can be reviewed here. Prognosis is good with resolution for most patients especially with viral etiology. Bacterial pericarditis has a worse prognosis.

Learning Point
Typically pericarditis presents with pleuritic chest pain that is improved with sitting up and leaning forward and high fever. The chest pain is worsened with cough, movement and even just breathing. Patients with pericarditis often will resist lying down. On auscultation of the heart, classically a frictional rub is heard throughout the cardiac cycle. Large effusions may not have a rub and often have distant heart sounds. Signs of pericardial tamponade include jugular venous distension, hepatomegaly and poor peripheral perfusion.

A chest radiograph is usually obtained as it is often available and typically shows an enlarged cardiac silhouette and potentially increased pulmonary vascular markings. The cardiac silhouette can be normal though also. Electrocardiograms are also often available and classically show ST-segment elevation and low voltage QRS complexes. Echocardiograms, if available, can show the actual effusion and its size, and also help determine if there is associated myocarditis as well (20-30% of patients have both).

“Acute pericarditis is diagnosed based up on the presence of two of the following: chest pain that is consistent with pericarditis, pericardial friction rub, suggestive changes on [electrocardiogram], and new or worsening pericardial effusion.”

Questions for Further Discussion
1. How is myocarditis different than pericarditis? A review can be found here
2. How are pericardial and pleural effusions similar and different?
3. What is in the differential diagnosis of chest pain? A review can be found here

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 and the Cochrane Database of Systematic Reviews.

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

Imazio M, Gaita F, LeWinter M. Evaluation and Treatment of Pericarditis: A Systematic Review. JAMA. 2015;314(14):1498-1506. doi:10.1001/jama.2015.12763

Leong K, Kane JM, Joy BF. Acquired Cardiac Disease in the Pediatric Intensive Care Unit. Pediatr Ann. 2018;47(7):e280-e285. doi:10.3928/19382359-20180620-01

Tunuguntla H, Jeewa A, Denfield SW. Acute Myocarditis and Pericarditis in Children. Pediatr Rev. 2019;40(1):14-25. doi:10.1542/pir.2018-0044

Areias JC. Pericarditis: Characteristics of a pediatric population. Rev Port Cardiol. 2019;38(2):103-104. doi:10.1016/j.repc.2019.02.003

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

What are Indications for Wisdom Teeth Removal?

Patient Presentation
A 14-year-old female came to clinic for her health supervision visit. Her mother was concerned because the patient was scheduled to have her wisdom teeth out as part of planned orthodontic treatment. “In my home country we don’t take teeth out very much. Only if they are rotten. We also have alot more rotten teeth too,” the mother stated. The past medical and family history were non-contributory including no problems with anesthesia.

The pertinent physical exam showed a healthy female with normal vital signs with her height and weight in the 25-50%. She had an obvious malalignment of multiple teeth. The rest of her examination was normal. The diagnosis of a healthy female was made. The pediatrician recommended that the mother discuss the procedure with their dentist, orthodontist and dental surgeon so she would better understand the reasons they were recommending the dental extraction.

Discussion
Third molars (M3) are often referred to as wisdom teeth. They begin calcification at 7-9 years and usually erupt between 17-26 years. They usually erupt behind the second molar into what may be limited space. M3 can also fail to erupt. Impacted M3 occur because of abnormal position, obstruction, or lack of space.

There are 4 potential groups to consider for M3 management:

  • Group 1 – symptomatic with clinical disease
    • Epidemiology: common
    • Clinical presentations: edema, pain, trismus
    • Disease: caries, pericoronitis and infection are common
    • Treatment: treatment of disease is important but extraction is recommended because patient is symptomatic and has clinical disease
  • Group 2 – symptomatic without clinical disease
    • Epidemiology: doesn’t occur frequently and hard to discern
    • Clinical presentations: vague pain
    • Treatment: Discussion with patient regarding risks and benefits of symptoms that may or may not be attributable to M3
  • Group 3 – asymptomatic with clinical disease
    • Clinical presentations: none
    • Disease: caries, periodonitis, cysts or tumors
    • Treatment: treatment of disease is important but extraction is often recommended because patient has clinical disease

  • Group 4 – asymptomatic without clinical disease
    • Epidemiology: often occurs depending on age
    • Clinical presentations: none
    • Treatment: Controversial, “Available evidence is insufficient to show whether or not asymptomatic disease-free impacted wisdom teeth should be removed.”

Learning Point

Some problems associated with M3 and potential indications for removal include:

  • Gum disease with edema or ulceration
  • Bone disease including cysts or tumors, fractures
  • Damage to adjacent structures – e.g. roots of adjacent teeth
  • Infection – localized or adjacent
  • Spacing problems for arch and dental structures – orthodontic or orthognathic surgical indications
  • Non-functional, non-hygenic tooth
  • Interference with removable prosthetics (e.g. dentures)

Potential problems with M3 surgical removal include:

  • Bleeding
  • Cost
  • Fracture
  • Osteitis or other infections
  • Nerve injury
  • Periodontal defects

M3 that are asymptomatic without clinical disease often over time are removed because they do develop disease. About 30% of these asymptomatic, unerupted M3 will move over time and cause problems. Thirty to sixty percent of patients who initially retained their M3 have them extracted between 4-12 years later. There is also little evidence for or against active surveillance for potential future disease in asymptomatic non-diseased M3. Complications of surgical removal once disease begins includes more difficulty in treating the disease, spread of disease to adjacent dental or facial structures, and increased risks of complications with surgical removal of M3s.

The first and second molar also have indications for their removal which can be reviewed in the to Learn More section below.

Questions for Further Discussion
1. When should infants and young children have their first dental visit?
2. When should children receive fluoride treatments for their teeth or sealants?

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 and the Cochrane Database of Systematic Reviews.

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

Hatami A, Dreyer C. The extraction of first, second or third permanent molar teeth and its effect on the dentofacial complex. Aust Dent J. August 2019. doi:10.1111/adj.12716

Steed MB. The indications for third-molar extractions. J Am Dent Assoc 1939. 2014;145(6):570-573. doi:10.14219/jada.2014.18

Dodson TB, Susarla SM. Impacted wisdom teeth. BMJ Clin Evid. 2014. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148832/. Accessed October 7, 2019.

Ghaeminia H, Perry J, Nienhuijs MEL, et al. Surgical removal versus retention for the management of asymptomatic disease-free impacted wisdom teeth. Cochrane Database Syst Rev. 2016;(8):CD003879. doi:10.1002/14651858.CD003879.pub4

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa