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. 2021 Jul 5;5(7):ytab195. doi: 10.1093/ehjcr/ytab195
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

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%