Fainting and feeling like fainting (syncope and presyncope) is a very common symptom, which most people ignore. And in most of the cases, especially in sporadic occurrences with obvious reasons (tiredness, alcohol intake, orthostasis etc), that’s a correct attitude. Repeated (pre-) syncopes however should receive a medical attention and proper work up.

We have faced an interesting medical presentation of a 41-year-old female who felt like fainting, feeling weakness and almost losing consciousness while riding a bike. She was brought to the ER. Her physical and blood examinations, were unremarkable. She reported a constant tiredness, sporadic slight headaches and a recent syncope while jogging, resulting in a fall, circumstances of which she could not recall.

Every suspicious fainting should lead to a cardiac work up, to rule out an underlying heart disease. We performed transthoracic echocardiograph and found a striking picture of the left part of the heart: the heart wall was double the size of a normal heart muscle. Additionally, it was interspersed with small muscular beams, called trabeculae. The blood flow was interrupted, as blood was trapped in the intertrabecular gaps.

These findings fulfilled the criteria of isolated left ventricular non-compaction cardiomyopathy – NCCM.

It is a genetic disease, caused by a defect when the heart is developing in an embryo. As a result, the heart’s wall is a ‘spongy mashwork’. A number of genes have been suggested to be associated with NCCM. The disease can be passed on children. NCCM may remain silent along the entire life or appear unspecifically, depending to what extent the heart function is affected: difficulties breathing, fatigue, leg edema, limited physical capacity, exercise intolerance and rarely also syncopes.

In advanced stages, the disease presents with heart failure, embolism and arrhythmias. The prognosis is difficult to predict and has to be individualized. Patients with symptomatic NCCM have a poor prognosis. Since there is no specific treatment so far, the essential approach is the early diagnosis and prevention of complications.

NCCM is a type of cardiomyopathy that was first described 25 years ago. Its molecular genetic basis is not yet fully clear, and the same is true of its diagnosis, treatment, and prognosis. Further study of these matters is needed.

Publication

Presyncope – not always an orthostatic problem.
Biskup EM
J Community Hosp Intern Med Perspect. 2015 Jun 15

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