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NYU Medical Grand Rounds
Clinical Vignette
Rachel Bond, MD
Class of 2012
Tuesday, April 10, 2012
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Chief Complaint
•67 year-old woman with three weeks of
progressive shortness of breath and lower
extremity edema.
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
History of Present Illness
•The patient was in her usual state of health
until the late 1990s when she developed
progressive shoulder weakness, leading
ultimately to evaluation by a neurologist who
diagnosed her with limb-girdle muscular
dystrophy with LMNA (lamin A/C) gene
mutations.
•From the time of diagnosis, the patient
received supportive care as treatment.
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
History of Present Illness
•She subsequently developed progressive
shortness of breath.
•An extensive evaluation led to the diagnosis
of severe restrictive lung disease,
obstructive sleep apnea and severe
pulmonary hypertension, treated with
nocturnal CPAP, sildenfail and bosentan.
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
History of Present Illness
•Several weeks prior to her presentation, her
sildenafil was transitioned to tadalafil, and
bosentan was continued.
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
History of Present Illness
•She subsequently developed reduction of
exercise tolerance from 3 blocks to one block with
new lower extremity edema.
•Her two-pillow orthopnea remained stable, and
she denied chest pain or palpitations.
•For her worsening pulmonary symptoms and
exercise intolerance, she presented to the
emergency room
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Additional History
•Past Medical History:
•Limb-girdle muscular dystrophy with lamin A/C mutations
•Restrictive lung disease
•Obstructive sleep apnea
•Asthma
•Severe pulmonary hypertension
•Paroxysmal atrial fibrillation
•Diastolic heart failure
•Stroke
•Past Surgical History:
•none
•Social History:
•Denies tobacco, drug, alcohol abuse
•Family History:
•Mother with muscular dystrophy.
•Multiple family members with early/sudden cardiac death.
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Additional History
•Allergies:
•No Known Drug Allergies
•Medications:
•tadalafil 20mg po daily
•furosemide 40mg po daily
•simvastatin 40mg po at bedtime
•warfarin 2mg po at bedtime
•budesonide soln bid
•fluticasone/salmeterol 500mcg/50mcg bid
•albuterol/atrovent nebs prn
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Physical Examination
•Well-appearing in no acute distress
•Vitals: T:98.6F, BP:120/85, HR:57 RR:16, and SaO2: 86% on
RA and 96% on 2LNC
•JVD to 14cm with hepatojugular reflex
•Decreased breath sounds bilaterally/diffuse rales
•Irregularly irregular HR with prominent P2
•1+ bilateral lower extremity edema to knees
•Gross atrophy of shoulder girdle muscles, 3/5 strength of
proximal muscles of upper limbs bilaterally, but 4/5 in both
lower limbs. Power preserved in distal muscles with deep
tendon reflexes diminished in lower limbs and absent in upper
limbs (baseline)
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Laboratory Findings
•CBC:
•WBC 8,200, Hg 14.5g/dL, Platelets 159,000
•Basic Metabolic panel:
•Na 144 meq/L
•K 4.1 meq/L
•Cl 103 meq/L
•Bicarb 35 meq/L
•BUN19 mg/dL
•Creatinine 0.4 mg/dL
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Laboratory Findings
•Brain Natriuretic Peptide 1170 pg/mL
•Troponin 0.027 mg/dL
•Arterial Blood Gas on 2L nasal cannula
•pH: 7.31
•pCO2: 72mmHg
•pO2: 132mmHg
•Bicarb: 35meq/L
•SaO2: 99%
•Lactic Acid: 0.7mg/dL
•INR 2.7
•Hepatic panel within normal limits
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Other Studies
•ECG:
•normal sinus rhythm with premature
ventricular complexes, isolated Q-wave in I,
and incomplete right bundle branch block
•Chest X-ray
•Poor inspiratory effort with patchy bilateral
opacities consistent with pulmonary edema
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Other Studies
•Transthoracic Echocardiogram
•LV ejection fraction 65%
•Impaired diastolic filling
•Severe biatrial dilitation
•Severe pulmonary hypertension
•Estimate PA systolic pressure 67mmHg
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Working Diagnosis
• Multifactorial congestive heart failure
exacerbation complicated by hypercapneic
respiratory failure
– LV diastolic dysfunction
– Severe pulmonary hypertension
– Recent medication changes
– Musculodystrophy/restrictive lung disease
– Obstructive sleep apnea
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Hospital Course
• The patient was admitted to the step-down
unit for close monitoring and was treated
with intravenous diuretics and her
taldenafil was discontinued.
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Hospital Course
• Her course was complicated by episodes
of intermittent tachycardia and bradycardia
with multiple >3second pauses on
telemetry.
• Given arrhythmia and family history of
sudden cardiac death, a dual chamber
ICD/pacemaker was implanted.
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Hospital Course
• The patient was successfully diuresed and
her heart failure symptoms improved to
baseline.
• She was discharged home with outpatient
follow-up with cardiology.
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Final Diagnosis
• Multi-factorial congestive heart failure
exacerbation with presumed tachy-brady
syndrome and cardiomyopathy due to
lamin a/c mutation.
UNITED STATES
DEPARTMENT OF VETERANS AFFAIRS
Arthur C. Fox Visiting Professorship
in Cardiovascular Biology
Christine Seidman, MD
Previous Recipients:
2002 - Peter Libby, MD
2003 - Kenneth Chien, MD, PhD
2004 - Eugene Braunwald, MD
2005 - Wilson Colucci, MD
2006 - Eric Olson, PhD
Arthur C. Fox, MD
2007 - Itzhak Kronzon, MD
2008 - Leslie Leinwand, PhD
2009 - Aldons J. Lusis, PhD
2010 – Joseph Loscalzo, MD, PhD
2011 – Daniel Rader, MD