Cardiologist Notes .....

Dear D. Champagne (this is because this letter was sent to us)

Chief Complaint: Friedreich's Ataxia and Hypertrophic Cardiomyopathy

Pertinent Clinical History: Kody is a 17 year old male who is seen for the first time in our practice, having recently relocated from the Tampa, FL area where he was followed by Pediatric Cardiology Associates for his hypertropic cardiomyopathy secondary to Friedreich's Ataxia which was diagnosed at the age of 7 years while the family was living in Michigan at the time.  He is not currently on any cardiac medications, having failed even low-dose atenolol due to low BP (50's/30's) with recurrent syncope.  He was also tried on the investigational medication idebenone as part of a research trial but has to stop it due to an "allergic reaction."  He has occasionally taken lasix PRN when he has leg edema, but he is not on any standing lasix dose due to concerns over his dynamic left ventricular outflow tract obstruction being worsened by hypovolemia.  When he was last seen by his cardiologist in Florida in February 2013, a 24 hour Holter monitor was placed, the results of which are not available for my review.  His mother was told that it revealed "arrhythmic moments" and was as expected given his condition.  His cardiac records have been requested, and his mother will be scheduling him to be seen by neurology, orthopedics, and pulmonary medicine locally.  He denies any palpatations, but he will occasionally have pressure-like right-sided chest pain that is not associated with other symptoms and which does not require any treatment to resolve spontaneously.  He also has significant scoliosis and restrictive lung disease and is wheelchair bound.

Kody has a past medical history and family history are documented in the medical record.

A 10 system review was performed and is documented in the medical record.

Medications:  No current outpatient prescriptions on file.

Pertinent physical findings: 

Pulse 100, Resp 18, BP RUE 100/78 mmHg, BP LLE 112/0 mmHg, Wt (wheelchair bound), Ht (wheelchair bound)

Constitutional: no distress, wheelchair bound with profound muslce weakness and difficulty speaking, cachectic, and small for age.

Head: normocephalic, atraumatic

Eyes: normal sclera, conjunctiva, and lids

ENT: inspection of nares, gums, oral mucosa, and external ears appears normal

Neck: mobile with weak muscle tone

Chest and lungs: clear to auscultation and fair air exchange without wheezes with asymmetric chest shape.

Cardiac: normal active precordium, regular rhythm, normal S1, physiologically split S2, no diastolic murmurs, clicks, rubs, or gallops, brachial and femoral pulses are 2+ and symmetric without delay, normal distal perfusion with brisk capillary refill, no jugular venous distention and no clubbing, cyanosis, or edema; grade I-II/VI medium frequency systolic ejection murmur maximal at the left sternal border and radiating along the sternal border.

Abdomen: no masses, no hepatamegally, no splenomegally and soft and nontender / active bowel sounds.

Muscoskeletal: severly decreased muscle strength diffusely; sever scoliosis

Extremities: decreased muscle tone in extremities

Skin: clearn, no rashes, no lesions.

Neurological: cooperative, able to speak a few words at a time without becoming out of breath.

Laboratory:

ECG: due to his known hypertrophic cardiomyopathy, a 12 lead electrocardiogram was performed in order to assist with the evaluation of his rhythm and ventricular forces.  This was obtained and demonstrated: normal sinus rhythm at 96 bpm with a normal corrected QTc interval of 401 msec.  There was inferolateral T-wave inversions as previously reported with ST segment elevation in leads V1-V3 as previously seen.

Echocardiogram: Given his past hypertrophic cardiomyopathy I did recommend an echocardiogram in order to evaluate for any worsening of his ventricular function or left ventricular outflow tract obstruction.  This study was obtained and demonstrated severe concentric left ventricular hypertrophy with a IVSd of ~18-19 mm and a LVPWd of 14 mm.  There was a near LV cavity obliteration in systole with systolic anterior motion of the mitral valve resulting in very mild mitral regurgitation.  There was no effusion and no evidence of cor pulmonale.  There was good biventricular systolic function but evidence of significant left ventricular diastolic dysfunction based on tissue Doppler imagine. Overall, the left ventricular wall thickness seems compariable to his report from his previous study in Florida.

Impressions:

1) Friedreich's Ataxia

2) Severe hypertrophic cardiomyopathy without significant resting LVOT obstruction.

3) Systolic anterior motion of the mitral valve (SAM) with very mild regurgitation.

4) No pericardial effusion.

5) Marked left ventricular diastolic dysfunction with "normal" sytolic function in the setting of marked left ventricular hypertrophy.

Discussion:  At the present time given Kody's stable clinical status, I have not recommended any cardiac medications since he was intolerant of beta-blockers and idebenone.  I did review the importance of keeping him well-hydrated as hypovolemia could potentially result in increased dynamic left ventricular outflow tract obstruction.  I would also suggest that he be followed in our hypertrophic cardiomyopathy clinic and that the family establish care with a local pediatrician as well as a pediatric neurologist, pulmonolgist, and orthopedic surgeon.  His mother is in agreement with this plan.  Overall, it would seen that his prognosis is poor given the severity of his heart disease,  There is a notation in his records from Florida that a DNR order was in place.  This should reasonably be re-addressed once he has been seen by our HCM clinic and by his local subspecialist.