To the parents of Kody:
This letter will summarize Kody's most recent visit to our clinic.
Chief Complaint: Friedreich's Ataxia and hypertrophic cardiomyopathy
Pertinent Clinical History: Kody is a 17 year old male who is seen for routine 3 month follow up. He was last seen by Dr. Sallee in August and referred to the HCM clinic for further assessment. He has a history of hypertropic cardiomyopathy secondary to Friedreich's Ataxia which was diagnosed at the age of 7 years while the family was living in Michigan. He is not currently on any cardiac medications, having failed even low-doze atenolol due to low BP (50's/30's) with recurrent syncopy. He was also tried on the investigational medication Idebenone as part of a research trail but had to stop it due to an "allergic reaction." He occasionally has 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 which are not available for my viewing. His mother was told 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 (MDA clinic), orthopedic, and pulmonary medicine locally. The family is trying to find a local primary care - family practice. He denies any palpatations, but parents have notices he becomes short of breath at times when talking. Mom has also noted his feet turn purple or blue. This usually improves when his feet are elevated and warmed. He also has significant scoliosis and restrictive lung disease and is wheelchair bound.
Kody has a past medical history of Scoliosis; Hypertrophic Cardiomyopathy; Friedreich's Ataxia; and Lymphangioma. He has a past surgical history that includes a biopsy. The family history was updated and is 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 84 ; Resp 24 ; BP RUE 98/78 mmHg (sm adult BP cuff while sitting) ; BP LLE ; Wt (UTO. pt. WCB); Ht (UTO. pt. WCB); BMI; BSA; Pulse ox: 95% (L thumb) ; Oxygen mode : room air
Constitutional: no distress, wheelchair bound with profound muscle 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 appear normal
Neck: mobile with weak muscle tone
Chest and lungs: clear to auscultation and fair air exchange without wheezes with asymmetric chest shape and severe scoliosis
Cardiac: normally active precordium, regular rhythm, normal S1, physiologically split S2, no murmurs, clicks, brisk capillary refill, no jugular venous distention and no clubbing, cyanosis, or edema
Abdomen: no masses, no hepatomegaly, no splenomegaly and soft and nontender / active bowl sounds
Musculoskeletal: severely decreased muscle strength diffusely; severe scoliosis
Extremities: decreased muscle tone in extremities
Skin: clear, no rashes or lesions
Neurological: cooperative, able to speak a few words at a time without becoming out of breath
Laboratory:
ECG: due to his known HCM, 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 @ 92bpm with a normal corrected QTc interval of 400 msec. There was inferolateral T-wave inversion as previously reported with ST segmented elevation in leads V1-V3 as previously seen.
Echocardiogram:
Not repeated today. Echo in August revealed severe concentric left ventricular hypertrophy with a IVSd of ~18-19 mm and a LVPWd of 14 mm. There was near LV cavity obliteration in systole with systolic anterior motion of the mitral valve resulting in a very mild mitral valve 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 image. Stable from prior echos in FL.
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 mitral valve regurgitation.
4) No pericardial effusion.
5) Marked left ventricular diastolic dysfunction with "normal" systolic function in the setting of marked left 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 potentiallyresult in increased dynamic left ventricular outflow tract obstruction. I would also suggest that the family establish care with a local primary care physician as well as a pediatric neurologist, pulmonologist, and orthopedic surgeon. His mother is in agreement with this plan. Overall, it would seem that his prognosis is poor given the severity of his heart disease and underlying diagnosis and the family would like to establish an advance directive. We will provide the family with the appropriate forms. We will plan to see him back in 6 months unless there are concerns in the meantime.
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