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An unusual case of heart failure

Case Presentation

A 45-year-old male visited our outpatient department due to breathless on mild exercise for 1 month. He also complained of frequent and sustained episodes of palpitations associated with shortness of breath and in the last few days he had also dyspnea at rest.  He denied chest pain, syncope and fever. He was a smoker and he had a mild dyslipidaemia. He had no history of coronary artery disease,  hypertension, diabetes, heavy alcohol use or illicit drug use. His family history was significant for a myocardial infarction and a sudden cardiac death, both in his father. His mother was 75 years old and lived in Romania, he hadn't any brothers or sons. There was no family history of congenital heart disease or cardiomyopathy.

Heart Failure

On physical examination, the patient's blood pressure was 110/70 mm Hg, his pulse rate was 80 beats per minute, and his respiratory rate was 20 per minute. On physical examination, rales are heard over the lower third  of  both lung fields, a third heart sound (S3 gallop) and a systolic murmur of grade II/III were audible at the apex. He had mild edema in the lower legs. His serum myocardial enzymes (creatine kinase, creatine kinase-MB and troponin I) were normal and brain natriuretic peptide was 1200 pg/ml (normal, 0–100 pg/ml).
The chest X-ray posteroanterior showed cardiomegaly and mild pulmonary edema.
An electrocardiography (ECG) demonstrated sinus rhythm, left bundle branch block with ventricular bigeminy (morphology of right ventricular outflow tract) , Qtc 410 msec.

An electrocardiography (ECG) demonstrated sinus rhythm

Echocardiography revealed LV dilatation (end-diastolic volume 173 mL), normal wall thickening (both interventricular septum and posterior wall were 8.5 mm), widespread LV hypokinesis with an ejection fraction (LVEF) of 30%, restrictive type diastolic filling pattern with mitral E/E’ ratio of 17, moderate mitral regurgitation and pulmonary hypertension (estimated systolic pulmonary artery pressure: 45 mm Hg). The left ventricle showed a 2-layer structure with a compacted, thin epicardial band and a much thicker noncompacted endocardial layer of trabecular meshwork predominaly localized in the apical and lateral wall, with a ratio of end-systolic noncompacted to compacted layers of 2.4.

Echocardiography revealed LV dilatation

Coronary angiography, which was performed to rule out ischemic heart disease, not reveal obstructive coronary artery disease (<50% stenosis). Ventriculography in the right anterior oblique (RAO) identified extensive trabeculations of the anterior, lateral, and apical regions. The overall EF was estimated at 25%. A presumptive diagnosis of left ventricular non-compaction (LVNC) was made.

Coronary angiography

Basal and contrast-enhanced cardiac magnetic resonance imaging (MRI) confirmed the presence of trabeculation and intertrabecular recesses, with a two-layered structure of the endocardium with an increased noncompacted to compacted ratio (> 2.0) in the LV lateral wall, as well as global hypokinesis and an increased LV volume, which were all compatible with LVNC.

Basal and contrast-enhanced cardiac magnetic resonance imaging

Short episodes of clinically silent atrial fibrillation, frequent episodes of ventricular bigeminy and many premature ventricular beats were documented during telemetric monitoring.

Which of the strategies/procedures do you judge reasonable at this time?
Do you think that genetic testing for LVNC is appropriate?

Notes to editor

Presented by Francesca Ferroni and Giacomo Boccuzzi
Cardiology Department, Ospedale San Giovanni Bosco, Torino, Italy
The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.

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