A real challenge: left ventricle non-compaction to a young patient

Introduction: Myocardial noncompaction is a primary cardiomyopathy with genetic transmission that affects the left ventricle or both ventricles. It is characterized by the persistence of the fetal spongiform structure with a deep trabecular myocardium with deep inter-trabecular recesses that communicates freely with the left ventricular cavity, but not with the coronary circu-lation. The pathogenic mechanism of this pathology consists in stopping the cardiomyocyte compaction process during intrauterine life. Myocardial noncom-paction (LVNC) can be isolated or sometimes associ-ated with other congenital abnormalities. The clinical picture is similar to that of other cardiomyopathies, the patient being able to develop cardiac failure, systolic and / or diastolic dysfunction, embolic events or malig-nant ventricular arrhythmias.Echocardiography is the main screening tool for this pathology, with the sub-sequent use of Cardiac Magnetic Resonance (CMR) to confirm the diagnosis.

Methods: A 28-year old caucasian man with history of epistaxis presented with chest pain for a few seconds for 3 months.He denied shortness of breath, sore throat or upper respiratory tract symptoms. He had an unre-markable medical history and denied alcohol and drug abuse. Family history was negative for any cardiac di-sease. Vital signs on admission were blood pressure 120/80 mm Hg, heart rate 100/min, respiratory rate 20/ min, temperature 36.9°C and oxygen saturation of 98% on room air. Systemic examination was negative for distended neck veins, bilateral basilar rales, S3 gallop and marked pedal oedema.The patient’s white cell count and troponin were within normal limits.Also, Chest radiography was normal. And an ECG show-ed sinus tachycardia.Left ventricular ejection fraction (LVEF) was calculated at 70% by biplane Simpson’s method. There were marked trabeculations, especially in the mid to apical portions of the left ventricle con-sistent with non-compaction cardiomyopathy. There is no a gold standard for diagnose of LVNC, but echocardiography it is the first tool in establishing the diagno-sis of LVNC.It is necessary to image the left ventricle with atypical views like proeminent trabeculae in apex or with Doppler flow to highlight intertrabecular re-cesses. As demonstrated in our patient, CMR is a very helpful adjuct to echocardiography as it is superior in assessing the extent of non-compaction. CMR has de-tected at our patient multiple trabecular lesions in the left ventricular myocardium with a fragmentary aspect of the pillars, fulfilling the non-compaction criterion in the apical segments. There is no evidence of myocardial edema or significant kinetic changes.Also, we mention that it was not possible to carry out the genetic tests for technical reasons.

Results: The positive diagnosis of myocardial noncom-paction is based on echocardiographic criteria, possibly confirmed by CMR exploration, which are: presence of at least 4 trabeculations with deep intertrabecular re-cesses, Segmental thickening of the left ventricle walls, compacted and non-compacted myocardium ratio gre-ater than 3, localization of changes in the middle areas of the lower, lateral and apical wall, highlighting the presence of blood flow in the Doppler recesses, lack of congenital abnormalities. As regards drug treatment, it is adapted according to the clinical presentation form. The prognosis is determined by the degree of severity and rapidity of the progression of heart failure, the se-verity of arrhythmias and the occurrence of embolic events. Predicted prognostic factors are: increased left ventricular telediastolic diameter, NYHA class III or IV heart failure, presence of permanent atrial fibrillation of the major left branch block. LVNC is a rare condi-tion, which affects less than 0.3% of the population. It is thought that 20-25% of cases of LVNC have a ge-netic basis.With regard to long-term management of the disease, symptomatic or high-risk patients will be evaluated regular every 6 months. There are no specific treatment guidelines for left ventricular noncompacti-on (LVNC). Medical management varies depending on clinical manifestations, left ventricular ejection fracti-on, the presence or absence of arrhythmias and the risk of thrombembolism.Patients should also be informed about the illness, complications, risks and the need for regular check-ups.

Conclusions: LVNC if not recognized early can pre-sent with fatal arrhythmias, sudden cardiac death and systemic embolism, which can lead to significant mor-bidity and mortality. It is very important for physicians to recognise this condition in anticipation of successful treatment.Also, because of strong familial occurrence, all first-degree relatives are recommended to have scre-ening echocardiography.We would like to increase the awareness about LVNC as one of the causes of sudden death in young adults and its diagnosis with carefully done echocardiography and CMR.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
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CODE: 379
CME Credits: 10 (Romanian College of Physicians)