Suggestions?

[Mom2four85]

After reading others posts about HCM, I started researching and need some suggestions what to do to get a proper dx or rule this out so I can move on to find the right dx.  Any suggestions or help is greatly appreciated so I can talk to my doctor.

I'm a 43yr old female and I do not know my family history on either side; my mother died at age 52 of breast cancer and I've been estranged moslty from both sides of my family since birth.  I have 4 children so if this is genetic I want to find out and get them tested also.

I've had fainting spells since age 9; and finally dx'd with NCS 8/26/209 per TTT; which also revealed when I fainted my heart stopped and my bp tanked.  I've been suffering for about 5 - 6 years with SoB, CP & Dizziness, but my exercise/exertion intolerance didn't start until last year; which was noted on my treadmill test on 7/6/09.

My 2D ECHO revealed concentric left ventricular hypertrophy with a normal EF of 55-60% on 7/6/09; it also showed mild Tricuspid and MVP insufficiency; a dialated left atrium with normal pressures; but could not visualize the pulmonic valve and the septal thickness, posterior wall thickness and left atrium were mildly enlarged - each by 1% point. Cardiac catherization on 8/28/09 revealed Non-Ischemic Cardiomyopathy with an EF of 40%.

Ekg's have picked up bigeminy & trigeminal pvc's since 4/27/2007; 24 Holter 7/1/09 revealed 50,000 pvc's and I've havd runs of nonsustained & sustained VT and I had to have a PM/ICD implanted.  I had an ablation that revealed my pvc's were coming from the right ventricular free wall outflow tract and posterior to free wall area of the RVOT.

I've had mildly prolonged QT's; slow R progression waves and nonspecific T and Septal T wave abnormalites, IRBBB and Bradycardia on most every test since 4/27/2007.  I've only had a handful of higher bp readings - such as 150/90 during my stress test and they said that was normal during exercise and I've never had a murmur

Should I go straight for specific genetic testing for HCM or should I have something else done first that I don't have listed here?  I've had blood tests for some genetics; Cardiac MRI for ARVD; referred to the founder of Brugada and nothing has shown up.  Am I missing something here that I should be tested for or have them look into?  

Since I have a PM/ICD do I really need to worry about myself? My concern is my symptoms are worsening and I don't want anything else to happen.

[Mom2four85]

thank you gendslori =) I'm going to get in contact with her

[grendslori]

Lisa, I have seen many postings from you on the forums questioning the diagnosis of HCM. You may want to make a trip to the Mayo Clinic or the Cleveland Clinic and have someone there do a full work-up on you. You could also talk to Lisa at the Hypertrophic Cardiomyopathy Association. She is really wonderful!

[kenkeith]

Thanks for your response.  I'm sure you picked up on the error, but to correct "Biopsy, echo, and your cardiologist's evaluation would be the alternative but not a decisive".  Biopsy should not be included in that statement. :)

[Mom2four85]

kenkeith; thank  you =)  I just wasn't sure if I should do something else

[kenkeith]

It is recognized (HCM) is a complex type of heart disease that affects the heart muscle.  To make an absolute dx is using a bioptome (a small catheter with a grasping device on the end) to obtain a small piece of heart muscle tissue to send to a laboratory for analysis. There are cellular changes that distinquish the pathology of the heart tissue and/or non-pathological thickened heart muscle (ie athletes' heart) that can enlarge heart walls.

Genetic testing may provide some information regarding your vulnerability but not whether you have the disorder.  Genetic testing may be of some interest to those that don't have HCM, but have a family history HCM.  Biopsy, echo, and your cardiologist's evaluation would be the alternative but not a decisive.

Hope this helps, and sorry for your extensive medical problems.  Take care.