Cardiovascular magnetic resonance findings in a case of Danon disease

Abstract

Danon disease is a rare X-linked dominant lysosomal glycogen storage disease that can lead to severe ventricular hypertrophy and heart failure. We report a case of Danon disease with cardiac involvement evaluated with cardiovascular magnetic resonance, including late gadolinium enhancement and perfusion studies. Case presentationA 19 year old male with no previous history of heart disease was admitted with rest dyspnoea, found to be due to acute heart failure. He had felt fatigued with progressive limitation of exercise tolerance over the preceding 3 months. Symptoms were exacerbated by an upper respiratory tract infection one month before hospitalization. The patient was treated with antibiotics without noticeable improvement. The patient's mother had died suddenly at the age of 44 with a dilated cardiomyopathy of unknown cause for which she had had a pacemaker implanted.On admission, the patient was cachectic with a body mass index of 17 and in poor general condition, with rest dyspnoea, tachypnoea of 30/minute and tachycardia of 130/ minute. His liver was enlarged, there was evidence of pulmonary oedema and a systolic murmur, maximal at the apex.Blood analysis showed elevated liver enzymes (aspartate aminotransferase 192 units/L; alanine aminotransferase 400 u/L and creatine kinase 510 u/L) and mildly elevated Troponin I and C-reactive protein levels. Chest X-ray confirmed pulmonary oedema and showed an enlarged heart shadow. Sinus tachycardia and left bundle branch block with QRS duration >200 ms were present on electrocardiogram.Echocardiography on admission revealed significantly enlarged left ventricle and both atria, severe hypertrophy of both ventricles muscle without left ventricular outflow tract (LVOT) obstruction. Moderate tricuspid and severe

Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

“…The gross cardiopathology findings in the male (III/3) and also female (III/2) patients were in agreement with previously published data on LV perfusion defects (Piotrowska-Kownacka et al, 2009), fibrotic scarring and remodeling (Maron et al, 2009;Toib et al, 2010) in DD patients. Of importance are the data specifying the extent and distribution of XCI skewing in the heart (Supplementary Table 2) and peripheral WBCs in the female patient (seeSection 4.2).…”

Cardiac Magnetic Resonance Imaging in Danon Disease

“…Up to the present, cardiac MRI findings have been overall reported in only 6 patients with Danon disease (3 males, 3 females; table 1) [7,8,9]. A total of 5 patients (4 males, 1 female) showed an HCM phenotype, including 2 patients (both males) with dilated-hypokinetic evolution; one of them also had features suggestive of LV non-compaction.…”

Danon Disease

“…37 Cardiac ablation has also achieved some success in eliminating arrhythmias in Danon disease patients; 7, 43, 44 however, anecdotally several patients in our registry have required multiple ablation procedures possibly reflecting diffuse and progressive fibrosis that is challenging to eliminate by ablation therapy.…”