Sports participation in non-compaction cardiomyopathy: a systematic review

Isolated noncompaction of left ventricular myocardium is a rare disorder of endomyocardial morphogenesis characterized by numerous, excessively prominent ventricular trabeculations and deep intertrabecular recesses. This study comprised eight cases, including three at necropsy. Ages ranged from 11 months to 22.5 years, with follow-up as long as 5 years. Gross morphological severity ranged from moderately abnormal ventricular trabeculations to profoundly abnormal, loosely compacted trabeculations. Echocardiographic images were diagnostic and corresponded to the morphological appearances at necropsy. The depths of the intertrabecular recesses were assessed by a quantitative echocardiographic X-to-Y ratio and were significantly greater than in normal control subjects (p less than 0.001). Clinical manifestations of the disorder included depressed left ventricular systolic function in five patients, ventricular arrhythmias in five, systemic embolization in three, distinctive facial dysmorphism in three, and familial recurrence in four patients. We conclude that isolated noncompaction of left ventricular myocardium is a rare if not unique disorder with characteristic morphological features that can be identified by two-dimensional echocardiography. The incidence of cardiovascular complications is high. The disorder may be associated with facial dysmorphism and familial recurrence.

We sought to describe characteristics and outcome in adults with isolated ventricular noncompaction (IVNC). Isolated ventricular noncompaction is an unclassified cardiomyopathy due to intrauterine arrest of compaction of the loose interwoven meshwork. Knowledge regarding diagnosis, morbidity and prognosis is limited. Echocardiographic criteria for IVNC include-in the absence of significant heart lesions-segmental thickening of the left ventricular myocardial wall consisting of two layers: a thin, compacted epicardial and an extremely thickened endocardial layer with prominent trabeculations and deep recesses. Thirty-four adults (age >16 years, 25 men) fulfilled the diagnostic criteria and were followed prospectively. At diagnosis, mean age was 42 + 17 years, and 12 patients (35%) were in New York Heart Association class III/IV. Left ventricular end-diastolic diameter was 65 + 12 mm and ejection fraction 33 + 13%. Apex and/or midventricular segments of both the inferior and lateral wall were involved in >80% of patients. Follow-up was 44 + 40 months. Major complications were heart failure in 18 patients (53%), thromboembolic events in 8 patients (24%) and ventricular tachycardias in 14 patients (41%). There were 12 deaths: sudden in six, end-stage heart failure in four and other causes in two patients. Four patients underwent heart transplantation. Automated cardioverter/defibrillators were implanted in four patients. Diagnosis of IVNC by echocardiography using strict criteria is feasible. Its mortality and morbidity are high, including heart failure, thrombo-embolic events and ventricular arrhythmias. Risk stratification includes heart failure therapy, oral anticoagulation, heart transplantation and implantation of an automated defibrillator/cardioverter. As IVNC is a distinct entity, its classification as a specific cardiomyopathy seems to be more appropriate.

To describe a method for measuring trabeculated left ventricular (LV) mass using cardiac magnetic resonance imaging and to assess its value in the diagnosis of left ventricular non-compaction (LVNC). Between January 2003 and 2008, we prospectively included 16 patients with LVNC. During the mean period, we included 16 patients with dilated cardiomyopathy (DCM), 16 patients with hypertrophic cardiomyopathy (HCM), and 16 control subjects. Left ventricular volumes, LV ejection fraction, and trabeculated LV mass were measured in the four different populations. The percentage of trabeculated LV mass was almost three times higher in the patients with LVNC (32 +/- 10%), compared with those with DCM (11 +/- 4%, P < 0.0001), HCM (12 +/- 4%, P < 0.0001), and controls (12 +/- 5%, P < 0.0001). A value of trabeculated LV mass above 20% of the global mass of the LV predicted the diagnosis of LVNC with a sensitivity of 93.7% [95% confidence interval (CI), 71.6-98.8%] and a specificity of 93.7% (95% CI, 83.1-97.8%; kappa = 0.84). The method described is reproducible and provides an assessment of the global amount of LV trabeculation. A trabeculated LV mass above 20% of the global LV mass is highly sensitive and specific for the diagnosis of LVNC.