Introduction: Cardiomyopathies (CM) are represented by a heterogenous group of myocardial diseases associated with mechanical and/or electrical dysfunction due to various causes that are most frequently genetic. Left ventricle (LV) noncompaction is a rare nonclassified CM affecting the LV or both of the ventricles consisting in the persistence of the fetal spongiform structure of the ventricular walls.
Objective: The aim of this presentation is to illustrate the importance of imaging techniques in the diagnosis of associations in a rare CM and the importance of family screening (FS) in genetic cardiovascular diseases.
Case presentation: We present the case of a 19-y-o patient with no significant medical history, who was sent to our clinic for evaluation after an abnomal ECG fin-ding that showed left atrial anomaly and a slight frag-mentation of the ORS complex, lacking significant terminal phase anomalies. The patient is asymptomatic, with normal clinical examination, except for the lower limbs blood pressure which was with 10 mmHg lower than in the upper limbs. The lab work-up was also unremarkable, except for a slight elevation of the BNP levels (48 pg/mL).
TTE revealed normal LV dimensions and a non-compacted myocardium, especially in the apex, mild LV sysyolic dysfunction (LVEF 45%) with a restrictive pattern, severe longitudinal dysfunction with particular apical sparing aspect of the GLS. Furthermore, a large IAS aneurism, which protrudes towards the RA, a bicuspid aortic valve with a relatively normal function were discovered. Also, the thoracic descending aorta presented a turbulent flow, with a maximum velocity of 2.4 m/s (continuous Doppler) suggesting a large aortic coarctation. TTE findings were confirmed using cardiac MRI and thoracic aorta angioCT. FS included both parents and his 10-y-o sister. On one hand, the patient’s mother showed a slight trabeculated LV myocardium in the apex, but with a normal global and longitudinal systolic function, as well as an IAS aneurysm. The patient’s sister was however intensely symptoma-tic (dyspnea at low-moderate physical activity and frequent respiratory infections) and was diagnosed with restrictive CM with LV dysfunction due to myocardial noncompactation, associated with 2 small ASD and PHT.
Conclusions: Although a rare cause of heart failure, noncompactation CM remains a notable diagnosis, especially in young patients with significant symptoms or ECG anomalies. In addition, reports show possible associations with other congenital heart defects such as atrial septal defects or aortic bicuspidy. We stress the importance of FS and the significant intrafamilial phe-notypic variability of the disease, as shown by the presence of different forms of severity in the same family, especially in its youngest members.