Assessment of Cardiac Function in Pulmonary Hypertension in Cardiovascular Magnetic Resonance

CARRIZO ALVARO; GUSTAVO ANDRÉS SOCOLSKY; SERGIO ERNESTO ORELLANA ; JOO TURONI CLAUDIO

Londres

Congreso; British Institute of Radiology Annual Congress 2021; 2021

British Institute of Radiology

Fabry disease is a lysosomal storage disorder caused by alterations in the gene for the α enzyme galactosidase (GLA gene) on the X chromosome that causes intracellular deposition, especially globotriaosylceramide (GL-3).Cardiac involvement is of great importance because it is one of the main causes of morbidity and mortality. The GL-3 reservoir produces:Hypertrophy of the left ventricle (LV), concentric or asymmetric.Hypertrophy of the right ventricle (RV).Systolic and / or diastolic dysfunction.Myocardial ischemia with healthy coronaries.Mitral and aortic valve thickening.Arrhythmias and conduction disturbances.PURPOSE: To assess the anatomical alterations by cardiac magnetic resonance (CMR) in patients with Fabry disease.CONCLUSION: Fabry disease occurs in 1 in 120,000 people. Therefore, it can be inferred that 6 patients in the province of Tucumán (population 1,500,000 inhabitants) is a significant casuistry. The cardiac alterations of Fabry disease such as cardiac hypertrophy appear mainly in adulthood, with signs of fibrosis appearing in advanced stages of the disease. Treatment includes enzyme replacement or administration of chaperones (proteins that help the folding of other proteins), so the CMR study in these patients helps us not only to follow-up but also to differentiate heart disease from other causes (which could be associated in these patients) in order to determine the best therapeutic regimen.