ABC | Volume 113, Nº5, November 2019

Review Article Fernandes et al. Deposit diseases and ventricular hypertrophy Arq Bras Cardiol. 2019; 113(5):979-987 Figure 5 – Image obtained from transthoracic echocardiography. Mitral Doppler spectral curve of a patient with amyloidosis showing a restrictive diastolic pattern (E/A ratio > 2) Table 1 – When Fabry’s disease suspect 1. Unexplained left ventricular hypertrophy (LVH) • Male gender • Atypical: diffuse concentric, med-ventricular or free wall 2. Electrocardiogram • PR shortening (< 120 ms) 3. Clinical manifestations • Angiokeratoma • Orthostatic hypotension, chronotropic incompetence, syncope and/or recurrent dizziness • Anidrosis or hyperhidrosis 4. Others • Renal insufficiency • Stroke • Verticilata cornea Laboratory tests show a rise in serum creatine kinase (CPK) levels from 5 to 10 x normal limits. Electrocardiogram is abnormal in all patients, showing Wolff-Parkinson-White syndrome (WPW), the high voltage on precordial leads, giant negative T waves, atrioventricular block, atrial flutter, atrial fibrillation, bradycardia, abnormal Q waves, and complete left bundle branch block. Echocardiograms show that most patients present a phenotype of concentric hypertrophic cardiomyopathy with impaired left ventricular function. 71 PRKAG2 syndrome is a rare autosomal dominant inherited disease characterized by cardiac hypertrophy, ventricular pre‑excitation, and conduction system abnormalities and increased risk of sudden death. 72 It is characterized by increased glycogen storage and glucose uptake as opposite to what occurs due to a defect in glycogen degradation. The clinical presentation is ventricular hypertrophy and tachyarrhythmias that can lead to sudden death, conduction tissue disease, severe myocardial hypertrophy, skeletal myopathy and arrhythmias, often related to Wolff‑Parkinson‑White syndrome. Occasionally, LV systolic dysfunction and high-grade AV block may require pacemaker implantation. The electrocardiographic appearance is a short PR interval in 70% of cases, right bundle branch block, atrioventricular or sinoatrial blocks. Cardiac hypertrophy can mainly affect the left ventricle, with progressive character accompanied by systolic and diastolic dysfunction with mean ventricular hypertrophy of 24 mm. High voltage in QRS complexes with ventricular repolarization abnormalities is observed even in the absence of left ventricular hypertrophy on echocardiography. Conclusions There are currently over 6,000 rare diseases in the world. Among those that affect the heart, many may be underdiagnosed, or even mistakenly mistaken for heart diseases most commonly seen in clinical practice, such as hypertensive heart disease and hypertrophic cardiomyopathy. The clinician should always ask for if the diagnosis is correct and should review his concepts. The clinician should try to complete all the puzzle pieces. For these purpose, they can visualize or even suggest the correct diagnosis and towards to a specific treatment. We emphasize the saying of Mark Krane: “ A doctor is not required to know everything. It's impossible. But you need to know where to go when you don't have the answer ”. 984