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

Background: Percutaneous pulmonary interventions require extensive and accurate navigation planning and guidance, especially in regard to the three-dimensional (3D) relationships between anatomical structures.In this study, we are demonstrating the feasibility of novel visualization techniques: 3D printing (3DP) and augmented reality (AR) in planning transcatheter pulmonary interventions.Methods: Two patients were qualified for balloon pulmonary angioplasty (BPA) for treatment of chronic thromboembolic pulmonary hypertension (CTEPH) and stent implantation for pulmonary artery stenosis, respectively. Computed tomography images of both patients were processed with segmentation algorithms and subsequently submitted to 3D modelling software. Microsoft HoloLens ® AR headsets with dedicated CarnaLife Holo ® software were utilized to display surface and volume rendering of pulmonary vessels as holograms.Results: Personalized life-sized models of the same structures were additionally 3D-printed for preoperative planning. Holograms were shown to physicians throughout the procedure and were used as a guidance and navigation tool. Operative team was able to manipulate the hologram and multiple users of the AR system could share the same image in real time. Clinicians expressed their satisfaction with the quality of imaging and potential clinical benefits.Conclusions: This study reports the potential value of AR in pulmonary interventions, however, prospective trials need to be conducted to decide on whether novel 3D visualization techniques affect perioperative treatment and outcomes.

oncompaction of the ventricular myocardium is a recently recognized genetic cardiomyopathy characterized by a distinctive ("spongy") morphological appearance of the left ventricle. 1 Prominent trabeculations are a normal feature of the developing myocardium in utero and left ventricular (LV) noncompaction is thought to result from a failure of the trabecular regression that occurs during normal embryonic development. 2 The diagnosis of ventricular noncompaction is usually made using echocardiography and cardiac magnetic resonance imaging (MRI). 1,3 We present a patient with myocardial noncompaction of both ventricles and severe pulmonary hypertension. Case ReportA 20-year-old man with chronic heart failure and paroxysmal atrial fibrillation was referred for diagnostic assessment and therapy. Atrial fibrillation and progressively worsening effort dyspnea had started 3 years ago. There was no family history of heart disease or sudden death. On admission, his blood pressure was 100/65 mmHg and the pulse rate was 76 beats/min. The 12-lead ECG showed sinus rhythm, pathological right-axis deviation, P-mitrale and pulmonale, and LV and right ventricular (RV) hypertrophy. Chronic interstitial lung congestion was found on chest X-ray. Transthoracic echocardiography revealed a normally sized, hypokinetic LV (ejection fraction 35%) accompanied by massive enlargement of the right and left atria. The apical portions of both ventricles had a markedly trabeculated, spongy appearance, indicating biventricular noncompaction ( Figures 1A-C).The maximum end-systolic ratio of the noncompacted endocardial layer to the compacted myocardium for the left and right ventricles was >2. Doppler examination showed color flow between the prominent trabeculations ( Figure 1D). Moreover, there was severe tricuspid regurgitation. The calculated peak systolic pulmonary artery pressure (140 mmHg) revealed severe pulmonary hypertension. The restrictive left ventricle inflow and decreased myocardial velocities (Figures 2A,B) suggested significantly elevated left ventricle end-diastolic pressure. MRI showed a typical pattern of an apical inner zone of noncompacted myocardium distinguished from the thin outer zone of compacted myocardium (Figures 3A,B). Right heart catheterization showed elevated pulmonary artery pressures (99/43/52 mmHg), and elevated mean pulmonary capillary wedge and right atrial pressures (24 and 16 mmHg, respectively), and a cardiac index of 1.51 L · min -1 · m -2 . Coronary angiography was performed and revealed normal coronary arteries. Left ventriculography showed a honeycomb-like appearance in the anterior, apical and inferior wall segments, and global hypokinesia. The LV ejection fraction was 25% and the LV and diastolic pressure was 27 mmHg. During hospitalization, venous thromboembolic disease, lung diseases, congenital heart diseases and other rare conditions as a potential cause Łukasz Kownacki, MD**; Zuzanna Rymarczyk, MD; Andrzej Wysokiń ski, MD, PhD*; Piotr Pruszczyk, MD, PhD, FESC Noncompaction of the ventricular my...

We present a case of a 67-year-old female with proximal chronic thromboembolic pulmonary hypertension (CTEPH), disqualified from pulmonary endarterectomy due to multiple comorbidities and high risk-to-benefit ratio as assessed by multidisciplinary CTEPH team. She was referred for balloon pulmonary angioplasty (BPA) and underwent three sessions with balloon catheters up to 8 mm diameter. During the second procedure, the elastic recoil phenomenon was observed in the treated post-thrombotic lesion of the right lower lobe artery, which made the balloon angioplasty ineffective. It was decided to implant a self-expanding stent for the prevention of restenosis. The procedure resulted in significant improvement of regional perfusion, as confirmed by control angiography. We feel that it contributed to the significant improvement of hemodynamic parameters and exercise capacity, as assessed three months after the last BPA procedure. In conclusion, pulmonary artery stenting may be an option in proximal CTEPH when elastic recoil phenomenon makes balloon angioplasty of a large vessel ineffective.

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