Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum

Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency of α 1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems. We describe two cases, a 23-year-old girl with dilated cardiomyopathy who presented with progressive dyspnea and fatigue and a 28-year-old girl with hypertrophic cardiomyopathy who was asymptomatic, secondary to the accumulation of amylopectin-like fibrillar glycogen, in heart. In both patients, the diagnosis was confirmed by enzyme assessment. Our patients showed that GSD IV is not only liver or skeletal muscle disease, but also it can be presented in different form of the spectrum of cardiomyopathy from dilated to hypertrophic and from asymptomatic to decompensated heart failure. Also, to our knowledge, this is the first hypertrophic cardiomyopathy case due to GSD IV in the literature

Evaluation of left ventricular systolic function with pulsed wave tissue Doppler in rheumatic mitral stenosis

Background: Mitral stenosis (MS) is still the most common complication of acute rheumatic fever in Turkey. Rheumatic carditis affects not only cardiac valves but also myocardium. In this study, we aimed to evaluate the subclinical left ventricular (LV) systolic dysfunction and contraction of short and long axial circumferential and longitudinal fibers by pulsed wave tissue Doppler in rheumatic MS patients who have preserved LV systolic function in 2D echocardiography.Methods: Fifteen severe, 20 moderate rheumatic MS patients hospitalized for mitral balloon valvuloplasty, and 15 patients who had normal echocardiographic findings were included in the study. After routine conventional transthoracic echocardiographic examination, LV myocardial systolic velocities were evaluated with pulsed wave tissue Doppler in the short and long axis with simultaneous electrocardiographic monitoring.Results: Long axis first systolic velocity (SW1) of mild-moderate and severe MS was much lower than normal group (10.7 ± 2.3 in normal group vs. 7.9 ± 1.3 in mild-moderate MS group vs. 6.2 ± 1.4 in severe MS group, p < 0.001). Long axis Q-SW1 duration was longer in mild-moderate MS group (145 ± 32 in normal group vs. 199 ± 43 in mild-moderate MS group, p = 0.001). Short axis Q-SW2 duration was longer in normal group compared to mild-moderate and severe MS groups (298 ± 41 in normal group vs. 245 ± 37 in mild-moderate MS group vs. 234 ± 26 in severe MS group, p < 0.001). Significant correlation between mitral valve area and SW1, Q-SW1 was determined (p = 0.01).Conclusions: Even if LV functions are normal with conventional 2D echocardiography, subclinical systolic dysfunction exists in MS. Also, there is a dyssynchrony between contraction of longitudinal and circumferential myofibrils

Relationship between CHA2DS2-VASc and CHADS2 scores with pulmonary hypertension in patients with acute pulmonary embolism

Introduction: Pulmonary hypertension (PH) is the most important prognostic factor after acute pulmonary embolism (PE). Therefore, determination of patients who will develop PH after acute PE is crucial.  The aim of the present study was to evaluate the predictive value of the CHADS2 and CHA2DS2-VASc scores for PH in patients with acute PE.Material and methods: Seventy-nine adults who presented with acute PE, had an admission systolic pulmonary artery pressure (sPAP) measured on echocardiogram and no previous history of PE, were retrospectively identified from the computerized database. 31 patients who had sPAP ≤ 40 mm Hg were categorized as a  “normal pulmonary pressure” group, whereas 48 patients who had sPAP > 40 mm Hg were categorized as a “PH” group.Results: SPAP was > 40 mm Hg in 48 patients (60.8%), with a mean sPAP of 60.9 ± 16.1 mm Hg (median = 60, min–max = 41–100 mm Hg). In multivariate logistic regression models adjusted for CHADS2 and CHA2DS2-VASc score components, only age was found to be related with the development of PH. SPAP was weakly positively correlated with CHADS2 (p = 0.047; r = 0.224) and CHA2DS2-VASc (p = 0.023; r = 0.256) scores. SPAP values were increasing with the severity of the scores.Conclusions: Both CHADS2 and CHA2DS2-VASc scores could be useful in the determination of which patients should be closely followed up in order to prevent the development of PH after acute PE

The relationship between functional capacity and ultrasonic tissue characterization in patients with idiopathic dilated cardiomyopathy

Background: Ultrasonic tissue characterization (UTC) has been widely used to investigate left ventricular (LV) dysfunction in various cardiac disorders. The aim of this study was to investigate the correlation between functional capacity and UTC in patients with idiopathic dilated cardiomyopathy (IDCM).Methods and Results: Treadmill test according to modified-Bruce protocol was performed in 48 patients with IDCM to assess their functional capacity. Baseline clinical and echocardiographic variables were obtained and UTC was performed on images obtained from septum and posterior wall (PW). Cyclic variation (CV) index of mean gray level (MGL) was calculated according to the formula: [(MGLdiastole − MGLsystole) ÷ MGLdiastole] × 100.PW and septum CV indices were correlated with exercise duration (r = 0.63, p = 0.001 and r = 0.67, p = 0.0001, respectively) and “MET” level (r = 0.80, p = 0.0001 and r = 0.83,p = 0.0001, respectively). The ROC curve analysis revealed that the PW CV index was a strong indicator of good exercise capacity (> 8 METs) with an AUC of 0.97 (95% CI0.90–1.0), as the interventricular septum (IVS) CV index (AUC = 0.97, 95% CI 0.89–1.0). Sensitivity, specificity, positive predictive value, and negative predictive value to identify good exercise capacity for IVS CV index were 90%, 88%, 82%, and 94%, respectively and for the PW CV index, 90%, 88%, 82%, and 94%, respectively.Conclusions: In this particular study, we found out that in patients with severe LV dysfunction good exercise capacity was related to septum and PW CV indices measured by UTC, and these indices may be used as an indirect prognostic marker in heart failure

Pseudocirrhosis; constrictive pericarditis due to huge calcific pericardial cystic mass compressing right cardiac chambers

WOS: 000209315200004PubMed: 2262666

Severe Tricuspid Regurgitation Diagnosed 13 Years after a Car Accident: A Case Report

Blunt chest traumas mostly occur due to car accidents and can cause many cardiac complications such as septal rupture, free-wall rupture, coronary artery dissection or thrombosis, heart failure, arrhythmias, and chordae and papillary muscle rupture. One of the most serious complication is tricuspid regurgitation (TR), which can be simply diagnosed by physical examination and confirmed by echocardiography. We describe a 48-year-old female patient, diagnosed with severe TR 13 years after a blunt chest trauma due to a car accident. TR was diagnosed with transthoracic echocardiography and three dimensional transthoracic echocardiography had defined the exact pathology of the tricuspid valve. The patient underwent successful surgery with bioprosthetic valve implantation and was discharged at 6th postoperative day without any complication. The patient had no problem according to the follow-up one month and six months after operatio

An echocardiographic clue for ostial left main coronary artery stenosis

Calcified nodules in human coronary arteries are usually focally distributed. Non-invasive imaging of coronary arteries by bedside emergency transthoracic echocardiography in adults is possible and may become a useful adjunct to other methods of coronary artery examination. Coronary artery stenosis can be identified as localized color aliasing and accelerated flow velocities. Complete visualization of individual ostial coronary segments might ease the demonstration of coronary stenosis by bedside transthoracic echocardiography. The left main coronary artery stenosis requires prompt emergency evaluation and treatment because emergency conditions have higher mortality rates. The authors wish to emphasize the usefulness of emergency bedside echo-Doppler for a prompt diagnosis and treatment of this life-threatening condition

Cardiac amyloidosis: Recent advances in the diagnosis and therapy

Cardiac amyloidosis (CA) is a progressive cardiomyopathy in which misfolded endogenous proteins form amyloid fibrils that deposit in the heart as well as kidneys, liver, gastrointestinal tract and soft tissues. The most common forms of CA include immunoglobulin light chain (AL) amyloidosis and transthyretin (TTR) amyloidosis. Although cardiac amyloidosis is thought to be a very rare disease, emerging data suggested that 13% of heart failure patients with preserved ejection fraction and 16-26% of advanced aged patients with severe aortic stenosis may have TTR-CA. Amyloidosis with cardiac involvement shows poor prognosis with a median survival of 6 months in AL-CA and 26-43 months in TTR-CA. Early diagnosis and novel therapeutic options have been shown to significantly improve prognosis. Recent diagnostic techniques such as cardiac MR or nuclear scintigraphy using bone isotopes as well as increasingly wide use of echocardiography, genetic testing, biopsy and histopathological analysis allow the clinicians to make early diagnosis of CA. The aim of this paper is to provide a comprehensive review including etiology, clinical presentation, diagnosis and management of CA and to address recent important advances in noninvasive cardiac imaging techniques and novel therapeutic approaches based on the available data in the literature