P353 A CASE OF FABRY DISEASE WITH ISOLATED CARDIAC INVOLVEMENT

Abstract

Abstract A 64–year–old patient,hypertensive,ex–smoker,no family history of CAD or MCI,with electrocardiographic abnormalities during checkups for sports activity at age 40,came to our observation for reported brief episodes of heart palpitation.On ecg sinus rhythm,PR 200 msec,elevated QRS voltages,negative T waves from V3–V6 and infero–laterally,isolated BEV. Echocardiogram showed asymmetric left ventricular hypertrophy with involvement of septum and mid–apical segments,absence of obstruction,grade II diastolic dysfunction,enlarged left atrium,ectasia of aortic bulb,ascending aorta and arch with mild valvular insufficiency. Cardiac MRI showed asymmetric hypertrophy with prevalent involvement of the SIV and apex,normal systolic function.Right ventricle within limits.LAM elongated,biatrial dilatation.Areas of enhancement with intramural extension to the inferior SIV and extensive subendocardial area to the infero–lateral wall,picture suggestive of Fabry disease. Holter ecg was performed:RS at mean fc 61 bpm,numerous isolated BEVs and pairs,1 run of TVNS of 11 beats,for which dual–chamber ICD implantation was performed in primary prevention.Genetic examination showed absence of alpha galactosidase enzyme activity and mutation in exon 5 of GLA gene(p.N215S). The patient had no other systemic symptoms typical of Fabry‘s disease such as CRI,acroparesthesias,angiokeratomas,cornea verticillata,gastrointestinal disturbances nor central neurological involvement.In addition,he was starting enzyme replacement therapy with alpha galactosidase on a home regimen.Hypertrophic cardiomyopathy is a frequent finding in clinical practice.In MF, the age of cardiac involvement is usually later than in other forms of cardiomyopathy. Cardiac MRI is the most appropriate technique to place a correct differential diagnosis;numerous studies have demonstrated preferential localization of areas of "delayed enhancement" at the infero–lateral and posterolateral basal wall,present even in the absence of frank ventricular hypertrophy. Systemic involvement, may help in the differential diagnosis because of the presence of characteristic symptoms.In the reported clinical case,however,the diagnosis is even more insidious since in late forms or cardiac variants of MF,as with the p.N215S gene variant,cardiomyopathy may be the only significant clinical manifestation.