Presentation | A 27-year-old man presented with lightheadedness, dyspnoea, orthopnoea, and bilateral lower extremity oedema |
History |
No similar problems in the past No significant past medical history Family history of Barth syndrome No alcohol or recreational drug use Active cigarette smoker |
Physical exam | Hypotension, tachycardia, jugular venous distension, bilateral lower extremity oedema |
Diagnostic workup | Leukopenia, neutropenia, monocytosis, hypocholesterolemia |
Electrocardiogram: sinus tachycardia, left atrial enlargement, prolonged QTc interval | |
Echocardiogram: left ventricular ejection fraction (LVEF) 15–20%, global enlargement of all chambers, mild pulmonary hypertension | |
Left heart catheterization: patent coronary arteries Right heart catheterization: mean pulmonary artery pressure 16 mmHg, cardiac index 2.02 L/min/m2 |
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Non-ischaemic cardiomyopathy workup, diuresis to euvolemia | |
Discharge |
LifeVest wearable defibrillator Medications: furosemide, carvedilol, sacubitril-valsartan |
Outpatient follow-up | Cardiology follow-up; addition of spironolactone to medication regimen |
Cardiac magnetic resonance imaging non-suggestive of infarction, infiltrate, or other abnormal enhancement; diagnosis confirmed by genetic testing | |
Regular follow-up with advanced heart failure cardiologist | |
2 years later | Echocardiogram: LVEF improved to 45–50% |