Dear Dr. Chung,
As you may recall from a few months prior, I posted a message in
regards to an unknown, prolonged illness of two years duration.
My main symptoms were "TIA" like attacks, with a sudden and severe
onset of shortness of breath. At that time, you suggested that the
etiology may be due to a combination of a hypercoagulable state in
combination with a PFO, leading to recurring PE and other embolic
events.
Your recommendation was undergoing TEE w/bubble study, and workup for
a hypercoagulable state. The TEE was normal, with no evidence of PFO
or ASD (performed with and without Valsalva). Chiari Network was
present in the right atrium, however. I am told that this holds no
significance. This supposed "Chiari Network" was also present on a
recent TTE taken back in Nov of 2006. A TTE taken in Dec of 2004 did
not reveal the Chiari Network.
In essence, the hypercoagulable state workup was normal. The only
positive finding was a gene variant for MTHFR A1298C, which I'm told
is a common finding among the population.
Despite the lack of clinical findings, my condition continues to
decline. A recent TTE taken in March shows an LVEDD of 63 mm, and a
LVESD of 46 mm. Two years ago, the same measures were 56 and 39,
respectively.
The ECG continues to change as well, showing complete right bundle
branch block with a QRS of 0.122 seconds, and an rSR complex in V1.
The "T" waves in the inferior leads are "flat".
Stress testing revealed a moderate sized area of mid-to-distal
inferoapical ischemia (reversible on rest), however, the cardiac cath
showed no blockages.
D-Dimer was negative, and a spiral CT of the lungs with contrast
revealed no PE. Despite this, I continue to have oxygen desaturations
into the low 80's with cyanosis of the fingernails.
Looking at recent lab results, the only abnormality I see is with the
CBC. The Lymphocyte count is 14 (21-51 normal), and the Neutrophil
count is 85 (36-72 normal). Past abnormalities included a positive
ANA, elevated Cortisol, and elevated Bilirubin.
Current signs and symptoms:
- SOB, varies in intensity, improved by laying on left side
- Sleep apnea type syndrome
- Heart rate varies grossly from 38 bpm to 150 bpm with no exertion
- BP spikes to 230/130, with average BP of 160/100 (despite two
medicines)
- Sudden onset of faintness, dizziness
- Complete vision loss left eye
- Joint pain, chest/shoulder/musculoskeletal
- Splinter hemorrhages in fingernails - frequent
- Petechial lesions on both forearms
- Chest pain radiating to left side of neck on exertion
- Frequent PVC's, felt in left side of neck
- Variable Bells Palsy, left side of face
- Numbness of the extremities
- 40 lbs weight loss (unintentional)
- Low body temp (96.9 F)
- Unequal dilation of pupils during an "event"
Height = 6'3", Weight = 178 lbs, Age 24
The local doctors (and independent cardiologist) are perplexed by my
condition. No explaination for the positive stress test, positive
echo, evolving ECG changes, etc can be appreciated. I have tried
dozens of antihypertensives (beta blockers, ACE, ARB's, Methyldopa)
without success. The average pressure remains 160/100 regardless.
Benzodiazepines (Klonopin, Valium) were also tried with no benefit.
Workup's for PE, Pheochromocytoma, Aldosteronism, Cushings, Renal
Artery Stenosis, Coarctation of Aorta, Neurological, and Lupus are all
normal.
Do you have any further suggestions at this point that could
potentially identify the culprit for this illness? Autoimmune perhaps?
Infectious process?
At any rate, I want to thank you for your past contributions. I
continue to search for the answer (although I'm just about out of
options at this point).
Sincerely,
Bill
Andrew B. Chung, MD/PhD - 18 Apr 2007 19:05 GMT
> Dear Dr. Chung,
>
[quoted text clipped - 6 lines]
> combination with a PFO, leading to recurring PE and other embolic
> events.
Yes, I recall your story.
> Your recommendation was undergoing TEE w/bubble study, and workup for
> a hypercoagulable state. The TEE was normal, with no evidence of PFO
[quoted text clipped - 3 lines]
> recent TTE taken back in Nov of 2006. A TTE taken in Dec of 2004 did
> not reveal the Chiari Network.
This would not explain your symptoms.
> In essence, the hypercoagulable state workup was normal. The only
> positive finding was a gene variant for MTHFR A1298C, which I'm told
> is a common finding among the population.
It can be associated with elevated homocysteine levels:
http://www.springerlink.com/content/7812g6l67l27514r/
> Despite the lack of clinical findings, my condition continues to
> decline. A recent TTE taken in March shows an LVEDD of 63 mm, and a
[quoted text clipped - 62 lines]
>
> Bill
Would suggest you ask to have your homocysteine level checked if it
hasn't been already.
May GOD bless you in HIS mighty way.
Prayerfully in Jesus' awesome love,
Andrew <><
--
Andrew B. Chung, MD/PhD
http://HeartMDPhD.com/Love/TheTruth
ryancinman@aol.com - 18 Apr 2007 20:54 GMT
On Apr 18, 2:05 pm, "Andrew B. Chung, MD/PhD"
<ach...@emorycardiology.com> wrote:
> Would suggest you ask to have your homocysteine level checked if it
> hasn't been already.
[quoted text clipped - 8 lines]
>
> - Show quoted text -
Dear Dr. Chung,
The homocysteine levels are normal. This was part of the
"hypercoagulable" workup, as was Hemochromatosis.
Thank you,
Bill
Andrew B. Chung, MD/PhD - 18 Apr 2007 22:36 GMT
> Andrew, in the Holy Spirit, boldly wrote:
>
[quoted text clipped - 7 lines]
> The homocysteine levels are normal. This was part of the
> "hypercoagulable" workup, as was Hemochromatosis.
If your blood sample was not handled properly, the measured
homocysteine levels can become falsely normal when it was actually
high when initially drawn.
It may be worthwhile to try high dose B12, folate, and B6
supplementation empirically because of your having the MTHFR A1298C
polymorphism.
May GOD bless you.
Prayerfully in Jesus' awesome love,
Andrew <><
--
Andrew B. Chung, MD/PhD
http://HeartMDPhD.com/Love/TheTruth
ryancinman@aol.com - 21 Apr 2007 07:17 GMT
Dear Dr. Chung,
The culprit has been identified. It is Polycythemia Vera. Whether it
is primary or secondary at this point is unknown (further work-up to
follow).
At this point, it is believed to be secondary to sleep apnea syndrome
or an endocrine tumor of extra-adrenal origin (ACTH secreting), as no
adrenal or pituitary tumors were appreciated. Cortisol level is twice
that of the upper normal reference range. Despite this, I am not
overweight (lost 40 lbs abruptly, as a matter of fact).
In your opinion, does it seem plausible that Polycythemia Vera could
lead to cardiac ischemia (upon exertion) and hypoxia? Progressive
dilation of the left ventricle and left atrium? Or, would the apnea or
endocrine sources potentially cause these progressive changes? I was
told that the progressive changes may be directly attributed to a
chronically elevated blood pressure (160/100 average).
Provided the underlying disorder is treatable, what are the odds of
the left ventricle and left atrium returning to normal (or near
normal) size? Unfortunately, I cannot tolerate ACE Inhibitors
(angioedema results). I am currently taking Atenolol 50 mg and Benicar
40 mg (the best combo thus far).
Thank you again, Dr. Chung.
Respectfully,
Bill
Andrew B. Chung, MD/PhD - 21 Apr 2007 07:37 GMT
> Dear Dr. Chung,
>
[quoted text clipped - 10 lines]
> In your opinion, does it seem plausible that Polycythemia Vera could
> lead to cardiac ischemia (upon exertion) and hypoxia?
No.
> Progressive
> dilation of the left ventricle and left atrium?
No.
> Or, would the apnea or
> endocrine sources potentially cause these progressive changes?
No.
> I was
> told that the progressive changes may be directly attributed to a
> chronically elevated blood pressure (160/100 average).
This is possible.
> Provided the underlying disorder is treatable, what are the odds of
> the left ventricle and left atrium returning to normal (or near
> normal) size?
Should be good.
> Unfortunately, I cannot tolerate ACE Inhibitors
> (angioedema results). I am currently taking Atenolol 50 mg and Benicar
> 40 mg (the best combo thus far).
The addition of a diuretic should be considered especially if your
blood pressure is still not optimal (110-115/70-75)
> Thank you again, Dr. Chung.
You are welcome.
Would redirect all thanks and praises and glory to GOD so that we will
both be blessed.
Prayerfully in Jesus' awesome love,
Andrew <><
--
Andrew B. Chung, MD/PhD
http://HeartMDPhD.com/Love/TheTruth