Coronary artery disease in adults with Noonan syndrome: Case series and literature review

Author(s):  
Reaksmei Ly ◽  
Gilles Soulat ◽  
Laurence Iserin ◽  
Magalie Ladouceur
2019 ◽  
Vol 27 (1) ◽  
pp. 315-321 ◽  
Author(s):  
Eliana Reyes ◽  
Stephen Richard Underwood

AbstractCoronary artery disease (CAD) is a leading cause of death and morbidity globally. Myocardial perfusion scintigraphy (MPS) is commonly used for the diagnosis of CAD, necessitating hyperaemia achieved either by physical exertion or by pharmacological stress, most commonly through use of a coronary arteriolar dilator. This is challenging in patients with respiratory conditions because exercise may be submaximal and adenosine is contraindicated because of the risk of bronchoconstriction. Regadenoson is the only selective adenosine A2A receptor agonist approved as a vasodilator in MPS. The risk of bronchospasm with regadenoson has been investigated in large, randomised trials; however, patients with the most severe respiratory conditions were not included. In this case series, we present the use of regadenoson MPS in five patients with moderate-to-severe lung conditions, including patients requiring lung volume reduction surgery and lung transplant. In all cases, regadenoson MPS provided valuable information for risk assessment and treatment optimisation. Although dyspnoea occurred in all patients, regadenoson was well tolerated without serious adverse events or bronchospasm; in no case was intervention required to treat dyspnoea.


2019 ◽  
Vol 2019 ◽  
pp. 1-9 ◽  
Author(s):  
Rupert Bauersachs ◽  
Uwe Zeymer ◽  
Jean-Baptiste Brière ◽  
Caroline Marre ◽  
Kevin Bowrin ◽  
...  

Background. Atherothrombotic disease, including coronary artery disease (CAD) and peripheral artery disease (PAD), can lead to cardiovascular (CV) events, such as myocardial infarction, stroke, limb ischemia, heart failure, and CV death. Aim. Evaluate the humanistic and economic burden of CAD and PAD and identify unmet needs through a comprehensive literature review. Methods. Relevant search terms were applied across online publication databases. Studies published between January 2010 and August 2017 meeting the inclusion/exclusion criteria were selected; guidelines were also included. Two rounds of screening were applied to select studies of relevance. Results. Worldwide data showed approximately 5–8% prevalence of CAD and 10–20% prevalence of PAD, dependent on the study design, average age, gender, and geographical location. Data from the REACH registry indicated that 18–35% of patients with CAD and 46–68% of patients with PAD had disease in one or more vascular beds. Use of medication to control modifiable CV risk factors was variable by country (lower in France than in Canada); statins and aspirin were the most widely used therapies in patients with chronic disease. Survival rates have improved with medical advancements, but there is an additional need to improve the humanistic burden of disease (i.e., associated disability and quality of life). The economic burden of atherothrombotic disease is high and expected to increase with increased survival and the aging population. Conclusion. CAD and PAD represent a substantial humanistic and economic burden worldwide, highlighting a need for new interventions to reduce the incidence of atherothrombotic disease.


2020 ◽  
Author(s):  
Ahmed Sami HAMMAMI ◽  
Mohamed JELLAZI ◽  
Marwa BEN BRAHIM ◽  
Syrine DAADA ◽  
Majed HASSINE ◽  
...  

Abstract Introduction:Cardiac involvement (CI), although rare, remains one of the most severe complications of Behçet Disease (BD).Objectiveto investigate the frequency and spectrum of cardiac involvement in BD and to assess the clinical and imaging features, treatment, and outcomes.MethodsWe retrospectively retrieved the medical records of patients with CI among 220 BD patients admitted to the internal medicine department between 2006 and 2016 who fulfilled the International Study Group diagnostic criteria for the classification of BD.ResultsTen patients were eligible for the study with a sex ratio (male/female) of 8/10. Three cases had 2 isolated episodes of cardiac BD. The mean age when diagnosing the first cardiac episode was 37,3-year-old. The different types of CI were: coronary artery disease (5/10), intracardiac thrombus (4/10) myocarditis (1/10), pericarditis (1/10), myocardial fibrosis (1/10). Vascular involvement was associated to CI in 5 cases (50%). The main symptoms were chest pain (80%), fever (60%), dyspnea (50%), cough (10%) and hemoptysis (10%). The laboratory tests revealed increased inflammatory markers in 5 patients. Medical treatment was based on colchicine and corticosteroid in all patients (100%), anticoagulants in 8 patients (80%), Cyclophosphamide followed by Azathioprine in 9 patients (90%), Azathioprine monotherapy was started in one patient (10%). Antiplatelet and anti-ischemic therapy in 5 patients who had coronary artery disease. The evolution was favorable in 9 cases and marked by severe heart failure and the death of one patient.ConclusionCI despite its rarity, remains an important feature of BD due to the increased risk of mortality and morbidity. Thus, early screening and detection are paramount. Also, imaging has been of great contribution to diagnose such complications and hence indicate the adequate treatment, including immunosuppressant agents.


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