Late diagnosis of Kawasaki disease with major cardiovascular complications: a case report /

Background Kawasaki disease (KD) is an acute systemic vasculitis syndrome, mostly targeting children under 5 years old. If untreated, coronary artery abnormalities develop to approximately one out of four patients who suffered from KD. As KD might be easily missed in childhood, managing cardiovascular complications might become a real challenge at an advanced age. Case summary A 25-year-old woman was presented to a skying resort hospital with discomfort in chest, shortness of breath, cold sweat, and dizziness after skiing. Based on increased troponin level and ECG findings, the specialists diagnosed myocarditis and initiated treatment with non-steroidal anti-inflammatory drugs. After the symptoms recurred in half a year, there was a need for further clarification of the diagnosis of myocarditis. The patient received a comprehensive cardiac imaging evaluation at Vilnius University Santaros Clinic to differentiate the cause of the recurrent chest pains. Coronary artery computed tomography revealed presence of aneurysm with wall calcification in left anterior descending artery S6—10 mm in diameter and aneurysm of circumflex artery S11—7 mm in diameter as well as occlusion of calcified right coronary artery. After taking a detailed medical history, a presumption about a former case of KD has been made. Discussion Coronary artery aneurysm is a cardiovascular sequelae of KD if it is left untreated. Due to atypical presentation, it might be overlooked, while the key of successful KD management is an early diagnosis and therapy

Auscultatory versus oscillometric blood pressure measurement in patients with atrial fibrillation and arterial hypertension

BACKGROUND: To evaluate a diagnostic value of transoesophageal echocardiogram (TEE) in appropriately anticoagulated patients with a non-valvular atrial fibrillation (AF) and to establish possible additional indications for TEE; to evaluate the incidence of left atrial (LA) thrombi in appropriately anticoagulated patients in daily clinical practice. METHODS: This retrospective study analyses data of 432 patients who had been anticoagulated by means of oral anticoagulants (OACs) prior to planned cardioversion during the period from 2012 to 2015. Thromboembolic (TE) and bleeding risks were assessed using CHA2DS2-VASc and HAS-BLED scores. Transthoracic and transoesophageal echocardiograms were evaluated. TE complications during 30 days after discharge were assessed. RESULTS: 432 patients were selected, aged from 22 to 89 years (mean 65.0 ±11.5), 277 (64.1%) males and 155 (35.9%) females, 306 (70.8%) on warfarin and 126 (29.2%) on non-vitamin K antagonist oral anticoagulants (NOAC). Mean CHA2DS2-VASc score was 3.5 ±1.5. TEE was performed for 120 (27.8%) patients, more frequently for patients on NOACs and for ones with III° LA enlargement. TEE revealed LA thrombi in seven (5.8%) of the patients. In warfarin and NOACs groups thrombi were revealed in five (7.0%) and two (4.1%) patients, respectively. TEE did not reveal any thrombi in patients with normal left ventricular (LV) function; however, thrombi were found in two (6.1%) patients with slightly decreased LV function, and in five (17.9%) patients with markedly decreased LV function. In patients with decreased left ventricular ejection fraction (LVEF) thrombi in LA were found more frequently than in patients with normal and slightly decreased LVEF (17.9% vs 2.2%, p=0.008). CHA2DS2-VASc score of all 7 patients was ≥5. None of the patients after cardioversion had TE complications 30 days after discharge. CONCLUSIONS: The risk of LA thrombi in patients prepared for scheduled cardioversion in line with the guidelines is low. Higher risk of thrombi was present in patients with decreased LVEF (≤40%), CHA2DS2-VASc ≥5. In order to assess more accurately indications to perform TEE for appropriately anticoagulated patients prior to scheduled cardioversion a study with larger number of patients is required

Genetic disease modifying future career: a case report of long QT syndrome

Long QT syndrome (LQTS) is a rare congenital and inherited or acquired heart condition in which delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsades de pointes. These episodes may lead to fainting and sudden death due to ventricular fibrillation. Long QT syndrome is a channelopathy, characterized by the disorder of ion channels, which results in a prolongation of QT interval and ventricular arrhythmias. Clinical manifestation of long QT syndrome varies from asymptomatic to life threatening arrhythmias. The first sign of the disease may be sudden cardiac death. Episodes may be provoked by various stimuli, depending on the subtype of the condition. Therefore, once the syndrome is diagnosed, prevention of adverse events should be started that could often change the lifestyle and sometimes future career. We present a case of an asymptomatic 15-year-old athlete girl, in whom long QT syndrome type 1 was diagnosed leading to termination of her professional sport career. Prolongation of QT interval was identified during routine health screening. The intermediate probability of long QT syndrome was calculated according to Schwartz and Crotti criteria, therefore genetic testing was performed showing pathogenic mutation of KCNQ1 gene. After the genetic confirmation of the disease, patient’s medical examination was reviewed showing QTc interval prolongation on recovery phase during exercise stress test. A scrutiny examination of athlete’s electrocardiograms is needed. Automatic calculation of QTc interval can be imprecise and manual recalculation is necessary. Accurate evaluation of LQTS ECG criteria helps to determine the probability of genetic syndrome, indications for genetic testing, lifestyle and treatment recommendations

Neurogenic stress cardiomyopathy following aneurysmal subarachnoid haemorrhage: a literature review

Neurogenic stress cardiomyopathy (NSC) is defined as transient cardiac dysfunction occurring after primary brain injury, such as aneurysmal subarachnoid haemorrhage, and characterised by left ventricular systolic dysfunction with reduced ejection fraction and abnormalities of regional wall motion. It may also be suspected if elevated levels of cardiac biomarkers and ECG abnormalities are present. It is a reversible condition with favourable long-term prognosis if diagnosed and treated timely, however, NSC is associated with higher rates of early mortality and complications, including pulmonary oedema, cardiogenic shock, delayed cerebral ischaemia. Early diagnosis of the NSC is important in order to prevent these complications and reduce mortality. Management of the NSC is complicated and a multidisciplinary approach is usually required.

Aborted cardiac arrest in LQT2 related to novel KCNH2 (hERG) variant identified in one Lithuanian family

Congenital long QT syndrome (LQTS) is a hereditary ion channelopathy associated with ventricular arrhythmia and sudden cardiac death starting from young age due to prolonged cardiac repolarization, which is represented by QT interval changes in electrocardiogram (ECG). Mutations in human ether-à-go-go related gene (KCNH2 (7q36.1), formerly named hERG) are responsible for Long QT syndrome type 2 (LQT2). LQT2 is the second most common type of LQTS. A resuscitated 31-year-old male with the diagnosis of LQT2 and his family are described. Sequencing analysis of their genomic DNA was performed. Amino acid alteration p.(Ser631Pro) in KCNH2 gene was found. This variant had not been previously described in literature, and it was found in three nuclear family members with different clinical course of the disease. Better understanding of genetic alterations and genotype-phenotype correlations aids in risk stratification and more effective management of these patients, especially when employing a trigger-specific approach to risk-assessment and individually tailored therapy

Chest pain in the emergency department: from score to core - a prospective clinical study

High-sensitivity troponin assay brought new challenges as we detect elevated concentration in many other diseases, and it became difficult to distinguish the real cause of this elevation. In this notion, diagnosis of acute coronary syndrome (ACS) remains a challenge in emergency department (ED). We aim to examine different approaches for rule-in and rule-out of ACS using risk scores, copeptin, and coronary computed tomography angiography (CCTA). A prospective observational study was designed to evaluate chest pain patients. Consecutive adult patients admitted to the ED with a chief complaint of chest pain due to any cause were included. All patients were followed-up for 6 months after discharge for major adverse cardiovascular events and readmissions. Admission data, ED processes, and diagnoses were analyzed. One hundred forty-six patients were included, average age was 63 ± 13.4 years, and 95 (65.1%) were male. Global Registry of Acute Coronary Events (GRACE) and History, ECG, Age, Risk factors, Troponin (HEART) scores showed good prognostic abilities, but HEART combination with copeptin improves diagnoses of myocardial infarction (area under the curve [AUC] 0.764 vs AUC 0.864 P = .0008). Patients with elevated copeptin were older, had higher risk scores, and were more likely to be admitted to hospital and diagnosed with ACS in ED. For copeptin, AUC was 0.715 (95% confidence interval 0.629-0.803), and for combination with troponin, AUC of 0.770 (0.703-0.855) did not improve rule-in of myocardial infarction. High-sensitivity troponin I assay alongside prior stroke, history of carotid stenosis, dyslipidemia, use of diuretics, and electrocardiogram changes (left bundle branch block or ST depression) are good predictors of myocardial infarction (χ² = 52.29, AUC = 0.875 [0.813-0.937], P < .001). The regression analysis showed that combination of copeptin and CCTA without significant stenosis can be used for ACS rule-out (χ² = 26.36, P < .001, AUC = 0.772 [0.681-0.863], negative predictive value of 96.25%). For rule-in of ACS, practitioner should consider not only scores for risk stratification but carefully analyze medical history and nonspecific electrocardiogram changes and even with normal troponin results, we strongly suggest thorough evaluation in chest pain unit. For rule-out of ACS combination of copeptin and CCTA holds great potential

Additional file 1: of Auscultatory versus oscillometric blood pressure measurement in patients with atrial fibrillation and arterial hypertension

The raw data of study patients. The dataset contains demographic data (e.g. gender, age) and clinical data (e.g. past and current diseases, blood pressure measurements) of the study patients. (XLSX 21 kb

Two novel variants in genes of arrhythmogenic right ventricular cardiomyopathy – a case report

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiomyopathy, characterized by fibrofatty replacement of myocytes in the right ventricular, left ventricular or both ventricles. It is caused by pathogenic variants of genes encoding desmosomal (JUP, DSP, PKP2, DSG2, DSC2) and non-desmosomal proteins, and is one of the most common causes of sudden cardiac death in young athletes. Therefore, early identification, correct prevention and treatment can prevent adverse outcomes. Case report. Our case presents a 65-years-old man with recurrent ventricular tachycardia. The ischemic cause was the first to rule out. Echocardiography revealed right ventricular structural and functional abnormalities. After suspicion of ARVC, magnetic resonance imaging was performed showing reduced right ventricular ejection fraction with local aneurysms, structural changes ir the right and left myocardium. Subsequently performed genetic testing identified a novel ARVC likely pathogenic variant in DSC2 gene and variant of uncertain significance in RYR2 gene. Conclusions. Diagnostic evaluation of ARVC is challenging and requires multidisciplinary team collaboration. Further functional tests for elucidation of the clinical significance of the two novel variants of ARVC-associated genes could be suggested

Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation

Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by &#945;-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical activity, and periodic cardiac arrhythmia. Echocardiography revealed left ventricular hypertrophy with normal diastolic function. The patient had experienced acroparesthesia in her upper limbs and abdominal pain since childhood, and in the last decade had experienced mild proteinuria without renal failure. Her renal biopsy was typical for Fabry disease. The patient&#8217;s brain magnetic resonance imaging (MRI) (T2 flair) showed white matter hyperintensities lesions. DNA sequencing of the proband, her mother and one of her sons showed a novel GLA gene exon 2 mutation, c.270C&gt;G (p.Cys90Trp). All three patients had decreased &#945;-galactosidase A activity and specific FD manifestations. Conclusions: A novel GLA mutation, c.270C&gt;G (p.Cys90Trp), was found in a Lithuanian family with a classical form of Fabry disease in heterozygous women with predominant cardiac involvement. However, the exact manifestation of this mutation is still unclear as it is newly reported and further research must be done