(III-5A.1.o) Isolated noncompaction of the left ventricle in a young athlete Karch I., Tomkiewicz-Pająk L., Podolec M., Nowacka M., Rubiś P.
Experts: Szydłowski L., Kordon Z., Mizia-Stec K., Podolec P., Kopeć G.

Background
Left ventricular noncompaction (LVNC) is a rare form of cardiomyopathy due to abnormal morphogenesis of the endocardium and myocardium that occurs between 5-th and 8-th week of fetal life. It is characterized by prominent myocardial trabeculations accompanied by deep intertrabecular recesses which lie in continuity with the left ventricular cavity. Given the increased risk of sudden cardiac death associated with LVNC, athletes with this diagnosis should be excluded from most competitive sports. We report previously non diagnosed LVNC in an asymptomatic 21-year-old footballer.

Case description
A 21-year-old athlete with impaired left ventricular ejection fraction was referred to our hospital for cardiovascular assessment. He had no family history of cardiac diseases or sudden deaths. No abnormalities in physical examination were found. Resting ECG showed sinus bradycardia 55 bpm and early repolarization. Wenckebach-type AV block and nocturnal sinus pauses (the longest 2,3 s) were recorded in 24-hr ECG monitoring. Moreover, episodes of atrial ectopic rhythm were found. Cardiopulmonary exercise test confirmed good exercise capacity (VO2 max 42 ml/kg/min).
Echocardiography showed enlargement of four cardiac chambers and mildly impaired left ventricular function (EF 42%). Periapical thickening of left ventricular myocardium was noted. LV wall in this region was inhomogeneous in appearance. Compacted, epicardial layer and a thick, noncompacted endocardial zone could be distinguished. No additional pathologies were found. The diagnosis of LVNC was confirmed in CMR.

Guidelines
Due to position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases screening is indicated in first-degree relatives of patients with LVNC. ECG and ECHO should be started in newborns and then systematically repeated until 50-60 years of age.

References
1. Pantazis AA, Elliott PM. Left ventricular noncompaction. Curr Opin Cardiol.2009;24:209-13
2. Genetic counselling and testing in cardiomyopathies: a position statement of the
European Society of Cardiology Working Group on Myocardial and Pericardial Diseases Eur. Heart J. 2011; 31: 2715–2728

Experts’ comments:
1. prof. Lesław Szydłowski MD, PhD: Left ventricular noncompaction is diagnosed within a wide range of ages. The course and symptoms of the disease can differ from case to case. The more advanced symptoms of cardiac insufficiency at the time of diagnosis, the worse prognosis can be expected.
2. Zbigniew Kordon MD, PhD: Aspirin as a prevention of thromboembolic complications and ACEI should be considered in asymptomatic patients with diagnosed left ventricular noncompaction and mildly impaired left ventricular function.
3. prof. Katarzyna Mizia-Stec MD, PhD. Echocardiography is a primary diagnostic tool for diagnosis left ventricular noncompaction, but in borderline cases CMR can be helpful. Current diagnostic criteria are based upon studies involving only a small number of patients and there are concerns that they are leading to the over-diagnosis of this condition in asymptomatic patients with normal ejection fraction. There is therefore a need to establish more stringent criteria.
4. Grzegorz Kopeć MD, PhD The patient should be excluded from competitive sports due to increased risk of sudden cardiac death. Some psychological support may be necessary to accept this decision.
5. Piotr Podolec MD, PhD, Paweł Petkow-Dymitrow MD, PhD. LVNC is a rare cardiovascular disease and no specific therapy is available. Standard treatment of asymptomatic left ventricular dysfunction plus strict observation is indicated.

Conclusions:
The athlete should be excluded from competitive sport. Data on treatment of LVNC are limited and there is no specific therapy. Aspirin as a prevention of thromboembolic complications and ACEI are an important part of treatment. New imaging techniques can lead to over-diagnosis of LVNC in asymptomatic patients. There is therefore a need to establish more stringent diagnostic criteria.

Authors:
Izabela Karch¹, Lidia Tomkiewicz-Pająk¹, Mateusz Podolec¹, Magdalena Nowacka¹, Paweł Rubiś¹

Experts:
Lesław Szydłowski², Zbigniew Kordon³, Katarzyna Mizia-Stec⁴, Piotr Podolec¹, Grzegorz Kopeć¹

¹ Department of Cardiac and Vascular Diseases, John Paul II Hospital, Kraków, Poland
² Department of Pediatric Cardiology, Medical University of Silesia, Katowice, Poland
³ Department of Pediatric Cardiology, Polish–American Children’s Hospital, Kraków, Poland
⁴ Department of Cardiology, Medical University of Silesia, Katowice, Poland