nsacmchart

NOTES

1) medical article

2) author does not know whether reference is scientifically based

3) article appears to be scientific

4) personal story/reference from parent/patient/clinician

5) This article doesn't specify drop attacks, heart beat irregularities and or syncope, but does talk about sweating and it's association with the autonomic nervous system. There can be several different reasons that a person experiences drop attacks, heart beat irregularities and or syncope. Drop attacks, heart beat irregularities and or syncope can stem from the autonomic nervous system.

6) A combination of cardiac defects commonly found in conjunction with Noonan Syndrome have dizziness as a symptom. These are not all of the heart problems found in association with NS, nor are all the heart problems found in NS associated with dizziness. I'm using cardiac defects as a way to explain a symptom. There is a possibility that people who experience dizziness as a symptom suffer from an undetected problem in another area/system of the body. For example: neurological issue that was misdiagnosed as an electrical problem within the heart.

7) A combination of cardiac defects found in conjunction with Noonan Syndrome have syncope as a symptom. These are not all of the heart problems found in Noonan Syndrome, nor are all of the heart defects found in NS associated with syncope. I'm using cardiac defects as a way to explain a symptom. There is a possibility that people who experience syncope as a symptom suffer from an undetected problem in another area/system of the body. For example: neurological issue that was misdiagnosed as an electrical problem within the heart/arteries/veins.

8) It should be noted that the historic definition (and the way that most physicians still view/diagnose a Chiari) is at least 5mm herniation of cerebellar tonsils past the foramen magnum: 1st article: Review Article: Chiari Type I Malformation with or Without Syringomyelia and 2nd article: what is arnold-chiari malformation? . In recent history it appears there needs to be a change of understanding of what can constitute an Arnold Chiari Malformation because of patients who present with symptomolgy consistent with Arnold Chiari Malformation 1, but tonsillar herniation less than 5 mm past the foramen magnum: and 3rd article: Growing Evidence Demonstrating Significance of Minimal or no Herniation of Cerebellar Tonsils and 4th article: Dimensions of the posterior fossa in patients symptomatic for Chiari I malformation but without cerebellar tonsillar descent (on the left side of the page click "PDF" version

9) Although it is a fairly common understanding that those with cardiac defects may experience differences in their heart beat (palpitations, tachycardia, brachycardia) - it is not commonly understood that people can experience heart beat irregularities because of a neurological reason. One of the reasons that people experience differences in their heart beats is a dysfunctional autonomic nervous system. A persons autonomic nervous system can become dysfunctional due to pressure on the brainstem, which can happen in the case of ACM. As far as my internet search led me I could not find any specific cardiac defects associated with a specific cardiac behavior issues (as an example: tachycardia is seen in people with Hypertrophic Cardio-myopathy.) However, parents of children with NS, and people with NS do experience heart beat irregularities as reported on TNSSG, inc. listserve.

* "Developmental delay" may also include but is not limited to: auditory processing dysfunction, visual/spacial motor dysfunction, verbal preformance discrepancies, non-verbal learning disorder, and Austistic like features or a specified Autistic disorder.

~ Syncope is a symptom that can happen for several different reasons. One reason that syncope can occur is heart defects. Another reason that syncope can occur is a dysfunctional autonomic nervous system (ans). The autonomic nervous system is not broadly understood by a large majority of physicians because it works many bodily systems, and in todays medicine it is hard to find many doctors who actually work cross-specialty in a multidisciplinary approach. A person can suffer syncope that actually stems from the autonomic nervous system (secondarily to ACM), and the etiology (point at which a medical problem stems from) can be noted as cardiologic. Many doctors do not understand that ACM can impact the ans in some people.

Medical literature which documents ACM/Syringomyelia found in patients with NS:

OMIM's reference on NS (mentions Arnold Chiari Malformation)

Noonan Syndrome with syringomyelia

Nosologic evaluation of Noonan syndrome and description of nine cases

Holocord syringomyelia as the dominant feature in Noonan Syndrome

Type I Arnold-Chiari Malformation and Noonan Syndrome. A new diagnostic feature?

Type 1 Arnold Chiari Malformation in a subject with Noonan Syndrome

Chiari (Type I) Malformation and Syringomyelia in a patient with Noonan syndrome

I grant permission for TNSSG, Inc to publish this as they see fit, but do not release publishing rights, or re-copying/distributing of this literature (and references) without prior written permission from me (Nancy S. Naugle: nnaugle@comcast.net). Editor in chief: Wanda H. Robinson

My sincere thanks to Wanda for her help, and collaboration on this project; without whose help this would not have been possible.

Please report broken/unavailable links to: Nancy Naugle

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