Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q.

PRKAG2 cardiac syndrome (PS) is a rare inherited disease due to PRKAG2 gene mutation and characterized by Wolff-Parkinson-White syndrome (WPWs), conduction system lesions and myocardial hypertrophy. It can also lead to serious consequences, such as sudden death. But the genetic and clinical heterogeneity makes the early diagnosis of PS difficult. Here we studied a family with familial hypertrophic cardiomyopathy and other diverse manifestations. Gene analysis identified a missense mutation (Arg302Gln) in the five affected subjects of the family. The electrocardiograph performance of the five was composed of sinus bradycardia (SB), WPWs, right bundle branch block (RBBB), atrioventricular block (AVB), left bundle branch block (LBBB), supraventricular tachycardia (SVT) and atrial premature beat (APB). Among them, the youngest one began to show paroxysmal palpitation at the age of nine and was confirmed to have WPWs at 17 years old; two members progressed over time to serious conduction damage, and the proband received a pacemaker at the age of 27 due to AVB. Besides, according to cardiac magnetic resonance and echocardiography, the youngest one showed symmetric hypertrophy; three older members showed asymmetric myocardial hypertrophy characterized with a diffuse pattern of middle-anterior-lateral-inferior wall hypertrophy and especially interventricular septal hypertrophy; all five affected patients showed atrial enlargement regardless of myocardial hypertrophy at an earlier stage. In conclusion, the conduction system disorder, familial atrial enlargement and symmetric cardiac hypertrophy may occur in the early stage of PRKAG2 R302Q mutation.

Factors influencing left ventricular ejection fraction in patients with coronary microvascular disease and obstructive coronary artery disease.

OBJECTIVE: The aim of our research was to evaluate the relationship involving left ventricular ejection fraction, low density lipoprotein, B-type natriuretic peptide, Troponin I and coronary flow reserve, and to determine the predictors of left ventricular ejection fraction in patients with coronary microvascular disease and obstructive coronary artery disease, and in patients with coronary microvascular disease. RESULTS: The mean age was 58.5 ± 12.5 years. In patients with obstructive coronary disease and coronary microvascular disease we found low density lipoprotein-c had significant inverse relationship with left ventricular ejection fraction, left ventricular ejection fraction also had significant negative relationship with B-type natriuretic peptide, and Troponin-I. While a significant direct relationship turned out to be observed linking left ventricular ejection fraction with coronary flow reserve. Left ventricular ejection fraction had significant negative relationship with low density lipoprotein, and B-type natriuretic peptide in patients with obstructive coronary artery disease only. Age, blood pressure, lipid levels, red cell distribution width, glycated hemoglobin, symptoms, New York heart association classification, alcohol drinking, hypertension, diabetes mellitus, troponin levels and B-type natriuretic peptide were the predictors for left ventricular ejection fraction in coronary microvascular disease patients.

The role of Cardiac Magnetic Resonance (CMR) in the diagnosis of cardiomyopathy: A systematic review.

Background: Myocardial pathologies are significant causes of morbidity and mortality in patients worldwide. Ischemic and non-ischemic cardiomyopathies have become a worldwide epidemic of the 21st century with an increasing impact on health care systems. The 2012 European Society of Cardiology and 2013 American College of Cardiology Foundation/American Heart Association guidelines provide current therapy guidance to reduce mortality and morbidity. Methods: This was a systematic review involving cardiac magnetic resonance (CMR) studies for the diagnosis of cardiomyopathy from January 2013 to April 2017. Out of 62 reviewed studies, only 12 were included in our study. Results: The average sensitivity and specificity of CMR in the diagnosis of cardiomyopathy was 86.75% (95% confidence interval [CI], 70.30% to 92.58%) and 81.75% (95% CI, 73.0% to 87.6%), respectively, and the positive predictive and negative predictive values were 80.17% and 86.75%, respectively. Conclusion: Despite some limitations, our study shows that CMR has high sensitivity, specificity, and positive predictive value in diagnosing different types of cardiomyopathy. CMR may be used to differentiate types of cardiomyopathy, accurately quantify the chamber dimensions, volumes, and cardiac function, which make it useful for prognosis as well.

The association of 18F-FDG PET/CT and biomarkers in confirming coronary microvascular dysfunction.

OBJECTIVE: The purpose of this study is to evaluate the association between PET/CT CFR and biomarkers combined in confirming the diagnosis of coronary microvascular dysfunction. RESULTS: A total of 28 patients (21 males and 7 females) were included in this descriptive observational study (both qualitative and quantitative). The mean patient age was 55.50 ± 10.21 years (range 27-70 years) and the median was 56.5 years (range 49-63 years). All patients underwent Echo, CAG and PET/CT scan. Chest tightness was the most common symptom in our study. Most patients had normal blood pressure (n = 18, 64.3%) while only (n = 10, 37.5%) had hypertension, and (n = 1, 3.6%) had diabetes mellitus. The mean HDL in CMVD (n = 25) and non-CMVD (n = 3) were 1.30 ± 0.39 and 1.08 ± 0.95, respectively, indicating that the difference between the groups was statistically significant (p = 0.04). Similarly, the mean HBA1c- (glycated haemoglobin) in CMVD (n = 25) and non-CMVD (n = 3) were 5.6 ± 0.53 and 5.0 ± 0.26, respectively, with (p = 0.03). Our findings managed to show the association between biomarkers and PET/CT CFR in confirming the diagnosis of coronary microvascular dysfunction.

Clinical significance of PET-CT coronary flow reserve in diagnosis of non-obstructive coronary artery disease.

OBJECTIVE: To improve current knowledge of coronary flow reserve and non-obstructive coronary artery disease in terms of definition, features and clinical implications of measurement of coronary flow reserve (CFR), is an integrated measure of focal, diffuse, and small vessel coronary artery disease, can also be explained as a calculated ratio of hyperaemic to rest absolute myocardial blood flow. Non-obstructive coronary artery disease is defined as atherosclerotic plaque that does not obstruct blood flow or result in anginal symptoms. We also aimed at knowing the significance of PET in diagnosing coronary microvascular disease. RESULTS: In our study 92% were between 41 and 60 years. 83% were males and 17% females, more patients had hypertension about 50%, few had diabetes mellitus about 16%, while those with both hypertension and diabetes mellitus were 17%. About 83% had ST segment and T wave changes on ECG. All patients and controls had normal coronaries on coronary angiography TIMI 3 flow. On further investigation by Positron emission tomography/CT we found out 58% had abnormal CFR and 42% had normal coronary flow reserve. Our findings indicate PET/CT coronary flow reserve concept provides a platform for the diagnosis of non-obstructive coronary artery disease in patients with signs and symptoms of ischemia without angiographic obstructive CAD.

The role of cardiac magnetic resonance (CMR) in the diagnosis of cardiomyopathy: A systematic review.

BACKGROUND: Myocardial pathologies are significant causes of morbidity and mortality in patients worldwide. Ischemic and non-ischemic cardiomyopathies have become a worldwide epidemic of the 21st century with an increasing impact on health care systems. The 2012 European Society of Cardiology and 2013 American College of Cardiology Foundation/American Heart Association guidelines provide current therapy guidance to reduce mortality and morbidity. METHODS: This was a systematic review involving cardiac magnetic resonance (CMR) studies for the diagnosis of cardiomyopathy from January 2013 to April 2017. Out of 62 reviewed studies, only 12 were included in our study. RESULTS: The average sensitivity and specificity of CMR in the diagnosis of cardiomyopathy was 86.75% (95% confidence interval [CI], 70.30% to 92.58%) and 81.75% (95% CI, 73.0% to 87.6%), respectively, and the positive predictive and negative predictive values were 80.17% and 86.75%, respectively. CONCLUSION: Despite some limitations, our study shows that CMR has high sensitivity, specificity, and positive predictive value in diagnosing different types of cardiomyopathy. CMR may be used to differentiate types of cardiomyopathy, accurately quantify the chamber dimensions, volumes, and cardiac function, which make it useful for prognosis as well.