An infrequent association: Left ventricular non compaction with bicuspid aortic valve and coarctation of the aorta.

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Left ventricular non compaction (LVNC) is a condition rarely diagnosed and reported in current literature. It affects approximately 8 to 12 per 1 million of individuals and its causes are not well understood, but they are linked to gene mutations. The authors present a 29-year-old male who came to medical consult for a pre surgical evaluation. He was completely asymptomatic. Due to an aortic diastolic murmur we performed a transthoracic echocardiogram which revealed severe aortic regurgitation, signs of left ventricular non compaction and coarctation of the aorta. Subsequently, we decided to send him for a CT scan and CMR that allowed to confirm our diagnosis and gave more support to our findings. We´re aimed to report this case because LVNC was found in a patient without symptoms but with a murmur missed in previous medical evaluations. Then, we encourage to be very accurate in patient’s examination and use non- invasive methods properly in order to identify such important cases.
Left ventricular non compaction (LVNC) is a rare congenital cardiomyopathy that can be diagnosed at any age. This disease makes the LV to become “spongy” and have two separate layers: a compacted epicardial layer and a large non compacted endocardial layer with trabeculation and deep recesses communicated within them but not with coronary circulation. Its reported prevalence is between 0.014 and 1.3% according to echocardiographic studies. Despite the exact mechanisms are not well comprehended, several gene mutations (especially in MYH7 and MYBPC3 genes) avoid myocardium to become smooth and firm (compacted) during intrauterine life. This condition is usually asymptomatic, but can be complicated by heart failure, thromboembolism or ventricular arrhythmias, including sudden cardiac death. It’s primarily diagnosed with echocardiography and confirmed with CMR. In this manuscript, we report a case of LVNC associated with two other abnormalities: bicuspid aortic valve and coarctation of the aorta. This case is important because this congenital disease is underdiagnosed and its prompt recognition is necessary to avoid further complications.

An asymptomatic 29-year-old male from Lima attended to a pre surgical evaluation for knee intervention, in our department. At physical exam, his vitals were: heart rate of 63 bpm, BP of 145/91 mmHg (measured in right arm), respiratory rate 14 breath/minute and blood oxygen saturation of 96%. The cardiovascular exam revealed a diastolic murmur in aortic area and diminished pulse amplitude in lower limbs. Therefore, BP was measured in left leg finding 100/60 mmHg. Due to described murmur and BP difference between arms and legs, there was suspicion of aortic regurgitation and coarctation of the aorta.

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