P204 CARDIAC INVOLVEMENT IN NEUTRAL LIPID STORAGE DISEASE (NLSD): A CASE REPORT

Abstract

Abstract Introduction Neutral Lipid Storage Diseases (NLSDs) are rare diseases with autosomal recessive transmission characterized by a defect in the metabolism of triglycerides that accumulate in many tissues. Vacuoles containing lipids in white blood cells (Jordans anomaly) are considered a diagnostic marker. In particular, NLSD–M (NLSD–myopathy) is caused by mutations in the PNPLA2 gene (Patatin Like Phospholipase Domain Containing 2, chromosome 11p15.5) that codes for an enzyme involved in the first phase of triglyceride hydrolysis in adipose tissue. In this patient the mutation of the PNPLA2 gene is c.542delCA, truncating the protein with loss of the hydrophobic domain. This mutation is associated with more severe infiltrative and arrhythmic cardiac involvement than those known in the literature. Case Report 52–year–old man with NLSD–M. The first symptoms of the disease appeared when he turned 35: weakness and atrophy of axial and proximal muscles, increased CK, scoliosis, fatty liver, electromyographic changes, arterial hypertension, dyslipidemia, renal failure and hypertransaminasemia. At 49, ECG revealed sinus rhythm, absence of ventricular repolarization abnormalities and echocardiogram revealed wall hypertrophy with a trabecular appearance of the left ventricle, sigmoid interventricular septum, preserved EF (58%), moderate diastolic dysfunction, left atrial enlargement, absence of significant valvulopathies. Cardiac MRI revealed lipid infiltration. An ICD was implanted for sustained ventricular tachycardia. At 50, atrial fibrillation was detected. EF was 53% and there was a small partially organized circumferential pericardial effusion. The last medical check, performed at 52 during hospitalization for atrial fibrillation with high ventricular response associated with hypokalemia and hypomagnesaemia, revealed ST–T alterations on ECG and a further reduction of EF to 46% on echocardiogram. Conclusions There is currently no medical treatment. A dietary supplement with medium–chain fatty acids (CNT–02) can be used to slow down the accumulation of lipids. The search for specific mutation is important to stratify cardiac risk.