Screening for Fabry disease in patients with left ventricular noncompaction.

INTRODUCTION AND AIM: It is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified whether LVNC is a cardiac manifestation of FD, a coincidental finding or an overdiagnosis, which has major therapeutic implications. This study aims to determine the prevalence of FD among patients with LVNC. METHODS: We performed a retrospective study including all patients diagnosed with LVNC in eight hospital centers. Diagnosis of LVNC was based on at least one echocardiographic or cardiac magnetic resonance criterion. FD screening was performed by combined enzyme and genetic testing. RESULTS: The study included 78 patients diagnosed with LVNC based on the Jenni (84.6%), Stöllberger (46.2%), Chin (21.8%), Petersen (83.8%) and Jacquier (16.2%) criteria. Left ventricular systolic dysfunction was present in 48.7%. Heart failure was found in 60.3%, ventricular dysrhythmias in 21.6% and embolic events in 11.5%. FD screening found no additional cases among patients with LVNC, besides the previously described case. CONCLUSION: No additional FD cases were found among patients with LVNC, which argues against the hypothesis that LVNC is a cardiac manifestation of FD.

Fifteen years of coronary intravascular ultrasound in percutaneous coronary intervention in Portugal. / Quinze anos de ecografia intravascular coronária em intervenção coronária percutânea em Portugal.

INTRODUCTION: Coronary intravascular ultrasound (IVUS) is increasingly important in catheterization laboratories due to its positive prognostic impact. This study aims to characterize the use of IVUS in percutaneous coronary intervention (PCI) in Portugal. METHODS: A retrospective observational study was performed based on the Portuguese Registry on Interventional Cardiology of the Portuguese Society of Cardiology. The clinical and angiographic profiles of patients who underwent PCI between 2002 and 2016, the percentage of IVUS use, and the coronary arteries assessed were characterized. RESULTS: A total of 118 706 PCIs were included, in which IVUS was used in 2266 (1.9%). Over time, use of IVUS changed from none in 2002 to generally increasing use from 2003 (0.1%) to 2016 (2.4%). The age of patients in whom coronary IVUS was used was similar to that of patients in whom IVUS was not used, but in the former group there were fewer male patients, and a higher prevalence of cardiovascular risk factors (hypertension, hypercholesterolemia and diabetes), previous myocardial infarction, previous PCI, multivessel coronary disease, C-type or bifurcated coronary lesions, and in-stent restenosis. IVUS was used in 54.8% of elective PCIs and in 19.15% of PCIs of the left main coronary artery. CONCLUSION: Coronary IVUS has been increasingly used in Portugal since 2003. It is used preferentially in elective PCIs, and in patients with higher cardiovascular risk, with more complex coronary lesions and lesions of the left main coronary artery.

A complex case of pacemaker lead endocarditis. / Um caso complexo de endocardite de sondas de pacemaker.

Pacemaker lead endocarditis is an uncommon complication after pacemaker implantation, but is associated with high rates of morbidity and mortality. The authors describe the case of a 68-year-old woman with a double-chamber pacemaker since 2007, admitted to an internal medicine department for spondylodiscitis and Staphylococcus aureus bacteremia. During hospitalization, she had an episode of syncope; the 12-lead electrocardiogram showed pacemaker malfunction with ventricular undersensing and loss of capture. A transesophageal echocardiogram showed images compatible with vegetations on the pacemaker leads. After antimicrobial therapy, the patient developed acute renal failure with subsequent multiple organ failure and death. A high index of clinical suspicion is required for early diagnosis and appropriate treatment of cardiac device-related infective endocarditis.