Rare association of left ventricular non-compaction and hypertrophic cardiomyopathy.

A 39-year-old man was referred to our hospital with an isolated episode of syncope. His past medical history was unremarkable. His father died of sudden death, at age 49, without known cardiomyopathy. Physical examination was unremarkable. Electrocardiogram showed sinus rhythm with signs of left ventricular (LV) hypertrophy and isolated premature ventricular contractions. Holter monitoring evidenced sinus rhythm, premature atrial contractions, isolated premature ventricular contractions, and a ventricular triplet.

Transthoracic echocardiogram (TTE) evidenced significant LV hypertrophy in the apical region and posterior wall, absence of significant intraventricular gradient at rest and after provocative manoeuvres, with preserved LV function, suggesting non-obstructive hypertrophic cardiomyopathy (HCM). Cardiac magnetic resonance imaging (CMR) showed LV hypertrophy predominantly in the lateral wall, with a maximum thickness of 25 mm, absence of LV outflow tract (LVOT) obstruction and prominent apical trabeculation, compatible with the association of LV non-compaction (LVNC) and HCM (). Cardiac magnetic resonance imaging evidenced late gadolinium enhancement (LGE) at the septal and lateral walls consistent with myocardial fibrosis (47.5 g, corresponding to 13.7% of LV mass, Supplementary material).

Figure 1

(A) Cardiac magnetic resonance imaging of short-axis view showing left ventricular non-compaction (red arrows) and prominent hypertrophy at the posterior wall (double arrow). (B) Corresponding echocardiographic modified short-axis images at end-diastole showing non-compaction (red arrows). LV, left ventricle; RV, right ventricle.

(A) Cardiac magnetic resonance imaging of four-chamber view depicting left and right ventricular non-compaction (red arrows). (B) Echocardiographic images from the apical four-chamber view at end-diastole depicting left and right ventricular non-compaction (red arrows). LA, left atrium; LV, left ventricle; RA, right atrium; RV, right ventricle.

The patient has been clinically followed up for 15 years. On the last medical appointment, he only referred dyspnoea on severe exertion. The patient was under irregular use of beta blocker (atenolol 12.5 mg/day). A genetic test was performed on this patient with inconclusive results.

LV non-compaction and HCM are cardiomyopathies with distinct clinical presentation that may present common genetic mutations. Some studies suggest a common genetic basis between HCM and LVNC and the possibility of a phenotypic association of these two cardiomyopathies in the same patient. However, the association of diagnostic criteria in cardiac imaging tests (TTE and CMR) compatible with LVNC and HCM in the same patient is uncommon. In addition, this patient shows an infrequent location of the most prominent hypertrophy in the lateral wall and a benign clinical follow-up. This case highlights the relative strengths of each imaging modality and how they complement each other for an accurate diagnosis. Transthoracic echocardiogram can assess LVOT gradient besides providing myocardial strain analysis. On the other hand, CMR can provide clear visualization of trabeculation and differentiating it from myocardial tissue, likewise providing LGE tissue characterization.

Supplementary material

Supplementary material is available at European Heart Journal - Case Reports online.

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