The role of cardiac imaging in assessing the cardiac involvement of type 1 Gaucher disease: a case report with review of literature.

BACKGROUND: Gaucher disease (GD) is a lysosomal storage disease that leads to the accumulation of glucocerebroside within reticuloendothelial cells, haematological, neurological, skeletal and abdominal organs. These clinical manifestations are common to all types of GD, but categorization depends on the absence of neurological involvement (type I) or its presence (type II and III). Cardiac involvement is rare and only reported in few cases, where valvular and aortic calcifications were associated with type IIIc. Other cardiac manifestations, such as constrictive pericarditis, pulmonary hypertension, myocardial infiltration, and restrictive cardiomyopathy, had also been reported. CASE PRESENTATION: We report a case of a 72-year-old patient with known type 1 GD who presented with a sudden syncope during exercise. He reported also an exercise intolerance evolving for three months. Echocardiography found concentric left ventricular hypertrophy with segmental hypokinesis, bi-atrial enlargement, and mildly reduced ejection fraction. Mitral flow was in favour of grade II diastolic dysfunction with elevated filling pressure. Cardiac magnetic resonance (CMR) showed interstitial fibrosis in the basal infero-septal wall, probably due to the myocardial infiltration of GD. Due to the lack of echocardiographic and CMR hallmarks of cardiac GD, we conducted a literature review on similar findings. CONCLUSION: This case illustrates the importance of non-invasive cardiac imaging in the diagnosis, prognosis and management of cardiac manifestations of GD.

Protocolized Natriuresis-Guided Decongestion Improves Diuretic Response: The Multicenter ENACT-HF Study.

BACKGROUND: The use of urinary sodium to guide diuretics in acute heart failure is recommended by experts and the most recent European Society of Cardiology guidelines. However, there are limited data to support this recommendation. The ENACT-HF study (Efficacy of a Standardized Diuretic Protocol in Acute Heart Failure) investigated the feasibility and efficacy of a standardized natriuresis-guided diuretic protocol in patients with acute heart failure and signs of volume overload. METHODS: ENACT-HF was an international, multicenter, open-label, pragmatic, 2-phase study, comparing the current standard of care of each center with a standardized diuretic protocol, including urinary sodium to guide therapy. The primary end point was natriuresis after 1 day. Secondary end points included cumulative natriuresis and diuresis after 2 days of treatment, length of stay, and in-hospital mortality. All end points were adjusted for baseline differences between both treatment arms. RESULTS: Four hundred one patients from 29 centers in 18 countries worldwide were included in the study. The natriuresis after 1 day was significantly higher in the protocol arm compared with the standard of care arm (282 versus 174 mmol; adjusted mean ratio, 1.64; P<0.001). After 2 days, the natriuresis remained higher in the protocol arm (538 versus 365 mmol; adjusted mean ratio, 1.52; P<0.001), with a significantly higher diuresis (5776 versus 4381 mL; adjusted mean ratio, 1.33; P<0.001). The protocol arm had a shorter length of stay (5.8 versus 7.0 days; adjusted mean ratio, 0.87; P=0.036). In-hospital mortality was low and did not significantly differ between the 2 arms (1.4% versus 2.0%; P=0.852). CONCLUSIONS: A standardized natriuresis-guided diuretic protocol to guide decongestion in acute heart failure was feasible, safe, and resulted in higher natriuresis and diuresis, as well as a shorter length of stay.

Pericardial Decompression Syndrome and an Evanescent Tricuspid Regurgitation: A Real Conundrum.

Cardiac tamponade is a life-threatening condition that requires emergency pericardiocentesis. In rare cases, pericardial drainage may be followed by "pericardial decompression syndrome" (PDS), a poorly understood but potentially fatal syndrome characterized by acute ventricular dysfunction. It may present in different clinical forms of varying severity and be managed differently depending on the clinical context. In this article, we report an atypical presentation of this syndrome, with the development of laminar tricuspid regurgitation after pericardial drainage. To our knowledge, this complication has never been reported in the medical literature. Our understanding of the pathophysiology of this condition is based entirely on case reports. And because clinical studies are difficult to perform, the best defense against PDS is early detection so that it can be recognized and treated quickly.

Marfan Syndrome, Giant Ascending Aortic Aneurysm, and Left Ventricular Noncompaction: The Heart in Jeopardy!

Marfan syndrome (MFS) is a heritable connective tissue disorder that is caused by a mutation of the FBN1 gene. It is characterized by cardiovascular, skeletal, and ocular manifestations, with thoracic aortic aneurysms being the main cardiovascular complication. Unconventionally, MFS can present with left ventricular noncompaction (LVNC), which introduces a supplementary aspect of cardiac dysfunction. We herein report the case of a 42-year-old male with MFS who presented with congestive heart failure and cardiogenic shock. His transthoracic echocardiography revealed a giant aortic root aneurysm, causing severe aortic regurgitation and dilated cardiomyopathy, along with LVNC. This case provides a brief overview of this rare medical condition, particularly the natural history of ascending thoracic aortic aneurysm, which is considered a silent complication and the most life-threatening one, combined with LVNC that correspondingly impairs the heart.

Biventricular arrhythmogenic cardiomyopathy diagnosed in a young patient: A case report with literature review.

Arrhythmogenic cardiomyopathy is a genetic heart muscle disease that typically affects the right ventricle. However, 2 other phenotypes affecting the left ventricle were recently discovered. Here, we report the case of an 18-year-old patient with biventricular arrhythmogenic cardiomyopathy, highlighting the challenges encountered in establishing this diagnosis. Diagnostic criteria for the left-sided phenotypic variants of arrhythmogenic cardiomyopathy were only introduced in 2020 by an international expert consensus document, known as the "Padua criteria," they are divided in 6 categories with an emphasis on morpho-functional ventricular abnormalities and structural myocardial tissue alterations to diagnose biventricular arrhythmogenic cardiomyopathy.

Pre-excited atrial fibrillation revealed at a very delayed age: case report.

BACKGROUND: Wolff-Parkinson-White (WPW) syndrome is a condition characterized by the persistence of an accessory pathway responsible for ventricular pre-excitation that can lead to symptomatic and potentially severe arrhythmias. Coexistence with atrial fibrillation is well known and not uncommon, exposing to potential degenerescence into ventricular fibrillation when atrial impulses are transmitted along the accessory pathway. WPW syndrome is most prevalent in younger patients and cases revealed after an advanced age have rarely been described in the literature. CASE PRESENTATION: Here, we report a case of atrial pre-excitation first diagnosed at the age of 72 years that required external electrical cardioversion with a favorable outcome. The diagnosis was based on clinical and electrographic findings. CONCLUSIONS: WPW syndrome is a relatively rare cardiac disorder that can be a cause of sudden death, especially when combined with atrial fibrillation. Therefore, cardiologists have to consider this diagnosis in patients presenting clinical signs of arrhythmia with an electrical pattern of WPW.

Intermittent obstruction of the left coronary artery ostia by a congenital supravalvular aortic membrane in an adult.

Left main coronary artery obstruction due to a congenital supra-aortic membrane is a rare anomaly, but it can have serious consequences, including significant myocardial ischemia that may result in impaired ventricular function or even sudden death. Therefore, early diagnosis and treatment of this condition are crucial for improving patient outcomes. We present, in this report, a patient with intermittent obstruction of the left coronary arteries caused by a congenital ostial membrane diagnosed in adulthood that resulted in myocardial ischemia.

Kearns Sayre syndrome: a rare etiology of complete atrioventricular block in children (case report).

Kearns Sayre syndrome is a rare mitochondrial abnormality first described in 1958, characterized by a triad associating progressive external ophthalmoplegia, ptosis, and pigmentary retinopathy with progressive alteration of cardiac conduction, which determines the vital prognosis of this entity. Here we report the case of a 13-year-old child of consanguineous parents who consults for recurrent syncope. The clinical exam found bilateral ptosis with complete atrioventricular block on electrocardiogram. The ophthalmological exam found pigmentary retinopathy. The patient underwent successful implantation of a double chamber pacemaker within 24 hours of admission, with an uneventful postoperative course. This case report highlights the interest of systematically assessing cardiac complications in children with mitochondrial disease such as Kearns Sayre syndrome, especially since cardiac involvement is the major prognostic factor in this disease.

Rationale and Design of the Efficacy of a Standardized Diuretic Protocol in Acute Heart Failure Study.

AIMS: Although acute heart failure (AHF) with volume overload is treated with loop diuretics, their dosing and type of administration are mainly based upon expert opinion. A recent position paper from the Heart Failure Association (HFA) proposed a step-wise pharmacologic diuretic strategy to increase the diuretic response and to achieve rapid decongestion. However, no study has evaluated this protocol prospectively. METHODS AND RESULTS: The Efficacy of a Standardized Diuretic Protocol in Acute Heart Failure (ENACT-HF) study is an international, multicentre, non-randomized, open-label, pragmatic study in AHF patients on chronic loop diuretic therapy, admitted to the hospital for intravenous loop diuretic therapy, aiming to enrol 500 patients. Inclusion criteria are as follows: at least one sign of volume overload (oedema, ascites, or pleural effusion), use ≥ 40 mg of furosemide or equivalent for >1 month, and a BNP > 250 ng/L or an N-terminal pro-B-type natriuretic peptide > 1000 pg/L. The study is designed in two sequential phases. During Phase 1, all centres will treat consecutive patients according to the local standard of care. In the Phase 2 of the study, all centres will implement a standardized diuretic protocol in the next cohort of consecutive patients. The protocol is based upon the recently published HFA algorithm on diuretic use and starts with intravenous administration of two times the oral home dose. It includes early assessment of diuretic response with a spot urinary sodium measurement after 2 h and urine output after 6 h. Diuretics will be tailored further based upon these measurements. The study is powered for its primary endpoint of natriuresis after 1 day and will be able to detect a 15% difference with 80% power. Secondary endpoints are natriuresis and diuresis after 2 days, change in congestion score, change in weight, in-hospital mortality, and length of hospitalization. CONCLUSIONS: The ENACT-HF study will investigate whether a step-wise diuretic approach, based upon early assessment of urinary sodium and urine output as proposed by the HFA, is feasible and able to improve decongestion in AHF with volume overload.

Diagnostic Accuracy of Global Longitudinal Strain for Detecting Significant Coronary Artery Disease in Diabetic Patients without Regional Wall Motion Abnormality.

AIMS: Speckle-tracking imaging is a novel method for assessing left ventricular (LV) function and ischemic changes. The aim of this prospective study was to assess the diagnostic accuracy of global longitudinal strain (GLS) and regional longitudinal strain (RLS) parameters at rest in comparison to stress echocardiography findings for detecting significant coronary artery disease (CAD) in patients with diabetes mellitus (DM). METHODS: We prospectively studied echocardiographic characteristics at rest with Speckle tracking echocardiography (2D STE) measures; then stress echocardiography and coronary angiography data in 34 diabetic patients without regional wall motion abnormality (RWMA) at rest. Patients were grouped according to coronary angiography and stress echocardiography results into two groups CAD (+) vs control group CAD (-). RESULTS: GLS at rest was lower in the CAD (+) group ((-14.2 % ± 3.1 vs -17.8 % ± 3.1 in the control group CAD (-), P=0.004). GLS at rest had the highest area under the ROC curve (AUC) (AUC 0.78, sensitivity 61%, specificity 91%,P=0.009) with the cut-off of -14.5% which is equal to predictive power of wall motion scoring index (WMSI) at peak stress to detect significant CAD (AUC=0.76 (95% CI 0.58-0.94, P= 0.016) with the cut-off value of 1.21). CONCLUSIONS: Global longitudinal strain at rest by STE showed excellent specificity (>90%) and good sensitivity (60%) for the diagnosis of severe CAD among the diabetic population with unknown CAD. This is the first study showing that GLS at rest with cutoff value at -14.5% had good and equal diagnostic accuracy as WMSI at peak stress to detect significant CAD among the diabetic population.

Mitral aneurysm: a rare complication of subaortic diaphragm infective endocarditis / Aneurisma mitral: una complicación poco frecuente de la endocarditis infecciosa del diafragma subaórtico

Abstract Mitral valve aneurysm is a rare and uncommon complication of infective endocarditis leading to a weakened mitral tissue. The most feared mitral valve aneurysm's complications are: perforation and severe mitral regurgitation. Multiple mechanisms have been suggested to explain the development of mitral valve aneurysm in aortic infective endocarditis including: local extension of the infection, the mitral kissing vegetation and aortic regurgitation. We report the case of a 29-year-old man who had infective endocarditis of a native aortic valve and the sub-aortic diaphragm complicated by a perforated mitral valve aneurysm diagnosed only by transesophageal echocardiogram. The patient had no sign of heart failure. We hypothesized that all those mechanisms lead to the developing of the mitral valve aneurysm in this case, but also the presence of the diaphragm favored the spread of the infection.

Resumen Una de las complicaciones poco comunes e inusuales de la endocarditis infecciosa son los aneurismas de la válvula mitral. Las complicaciones más temidas de estos últimos son la perforación y la insuficiencia mitral severa. Diferentes mecanismos pueden explicar el desarrollo de dicha insuficiencia en el contexto de una endocarditis infecciosa, incluyendo una extensión local, una vegetación sobre la válvula mitral y una insuficiencia aórtica. Nuestro caso clínico es el de un joven de 29 años diagnosticado de endocarditis infecciosa sobre su válvula aortica nativa con un diafragma subaortico complicado con un aneurisma de la válvula mitral perforado. El paciente no presentaba signos de insuficiencia cardíaca. Hemos supuesto que todos los mecanismos que hemos evocado anteriormente han llevado al desarrollo de dicho aneurisma, junto con la presencia del diafragma, elemento en favor de la diseminación de la infección.

Corrigendum: Kounis syndrome induced by oral intake of aspirin: case report and literature review.

[This corrects the article DOI: 10.11604/pamj.2018.30.301.14948.].

Knowledge, attitudes, and practice of organ donation in Morocco: A cross-sectional survey.

In any health system, public awareness of organ donation fundamentally affects the organ transplantation programs. The aim of this study was to evaluate the knowledge and perception of the people in Morocco toward organ donation as well as to identify the reasons and determinants for refusal of organ donation. This opinion survey included a representative sample of 2000 participants in Morocco, and data related to sociodemographic characteristics, knowledge and self-opinion about organ donation, and reasons behind refusal were collected. Statistical analysis showed that 55.2% of the participants were women, the median age was 21 years, and 60.8% of included participants had secondary education. Almost two-thirds of surveyed participants (62.3%) showed a low to mid-level of knowledge about organ donation and transplantation in Morocco. About half of the interviewed participants (48.8%) refused to donate their organs. Concern about risk of medical error and the belief in trafficking of procured organs were the main reasons for refusal, seen in 66% and 62% of the interviewees, respectively. Univariate and multivariate logistic regression models showed that the older, the less educated and the less informed a person is, the less he accepted organ donation. Therefore, promotion of organ donation in Morocco should involve a regular information and awareness among the general population.

Spontaneous rupture of right aortic sinus of Valsalva leading to massive cystic dissection of interventricular septum and complete heart block.

The interventricular septal dissection is an uncommon, and is occasionally associated with sinus of Valsalva aneurysm. A spontaneous dissection with a normal sinus of Valsalva is extremely rare and is mostly a result of a congenital defect. We report the case of a 23-year-old male admitted for complete heart block and presenting as an incidental finding during the TTE multiple and huge cystic-like mass in the interventricular septum (IVS) which is the TTE characteristic of IVS dissection. Most patients remain asymptomatic until the anatomical and hemodynamic changes lead to complications like: severe aortic regurgitation with heart failure and conduction abnormalities. Although transthoracic echocardiogram (TTE) has been the first-line imaging modality for such findings, cardiac computed tomography (CT) and magnetic resonance imaging have been increasingly used as supplemental or confirmatory tests. The imaging modalities showed a perforation of right sinus of Valsalva causing the expansion of the dissection to the apex. The patient underwent surgical repair with satisfying results. In conclusion, we report an extremely rare clinical case of spontaneous dissection of the interventricular septum using multiple imaging techniques and with a successful surgery.

Kounis syndrome induced by oral intake of aspirin: case report and literature review.

The Kounis-Zavras syndrome is defined as the coincidental occurrence of acute coronary events and hypersensitivity reactions following an allergic reaction including a mast-cell degranulation of vasospastic mediators. This report describes a case of Kounis-Zavras syndrome in the setting of aspirin-induced asthma also known as Samter-Beer triad combining nasal polyps, asthma, and aspirin allergy leading to vasospasm and myocardial infarction. All physicians should be aware of The Kounis syndrome and always keep that unique clinical entity in mind to recognize it promptly and direct the therapy at suppressing the allergic reaction.

Reversible Myocardial Injury and Intraventricular Thrombus Associated with Aluminium Phosphide Poisoning.

Aluminium phosphide (ALP) is widely used as a fumigant pesticide. In case of ALP poisoning, it is responsible for myocardial dysfunction, related to toxic myocarditis, and hemodynamic disorders. We report a case of a 28-year-old female who had intentionally ingested ALP and was admitted with cardiogenic shock. The transthoracic echocardiography (TTE) at the time of admission showed severe global myocardial hypokinesia with the presence of a giant left ventricular thrombus. Cardiovascular magnetic resonance (CMR) revealed extensive toxic myocarditis with a left ventricular systolic dysfunction. All cardiac lesions were reversible after symptomatic treatment, within 6 months. We aim, by reporting this case, to evidence the complete reversibility of cardiac injury due to aluminium phosphide poisoning documented by transthoracic echocardiography and cardiovascular magnetic resonance.

Left ventricular noncompaction-A rare form of cardiomyopathy: Revelation modes and predictors of mortality in adults through 23 cases.

OBJECTIVES: To describe modes of clinical presentation and echocardiographic, angiographic, and rhythmic features, and prognostic characteristics of left ventricular noncompaction cardiomyopathy (LVNC) in North African adults, through one of the first series in Morocco. BACKGROUND: LVNC is a rare congenital disorder, described for the first time by Engberding in 1984. The suspected diagnosis in thromboembolic, hemodynamic, or rhythm events requires both echocardiography and cardiovascular magnetic resonance (CMR). Its therapeutic management is not yet well codified but akin to that proposed for dilated cardiomyopathy. PATIENTS AND DESIGN: This study included a retrospective, descriptive, and analytical cohort of 23 cases of cardiomyopathy with LVNC diagnosed in the Noninvasive Explorations Laboratory at the Military Hospital of Rabat, Morocco, between January 2009 and October 2014. The echocardiographic criteria for LVNC include the absence of any coexisting cardiac anomalies. The characteristic appearance of numerous excessively prominent trabeculations and deep intertrabecular recesses and intertrabecular spaces filled by direct blood flow from the ventricular cavity, as visualized on color Doppler imaging with noncompacted/compacted ratio > 2 according to Jenni criteria. Twenty-three adults fulfilled the diagnostic criteria and were followed prospectively. RESULTS: At diagnosis, the mean age was 47 ± 13 years with a male predominance at 65.2%. Of them, 56.5% had a left bundle branch block and 21.7% were in atrial fibrillation. Left ventricular end-diastolic diameter was 67.7 ± 6.6 mm and ejection fraction was at 27 ± 8%. Apex and/or midventricular segments of both the inferior and lateral wall were involved in more than 80% of patients with an average of 4.8 noncompacted segments. CMR was performed in 12 patients and was decisive for the diagnosis. Major complications were heart failure in 31% of patients, ventricular tachycardia in three patients, and thromboembolic events in one patient. Twenty eight point six percent of patients started a long-term anticoagulant therapy. One patient underwent implantation of a double-room pacemaker. Automated defibrillators were implanted in two patients. There were three deaths: one sudden death and two end-stage heart failure. CONCLUSION: LVNC should be looked for at any dilated cardiomyopathy particularly in young patients. It requires a careful echocardiographic examination and sometimes CMR to confirm the diagnosis. It is characterized by severe systolic and diastolic dysfunction that would provide poor prognosis.

Electrocardiographic findings in correlation to magnetic resonance imaging patterns in African patients with isolated ventricular noncompaction.

OBJECTIVE: Isolated ventricular noncompaction is a rare primary genetic cardiomyopathy characterized by persistent embryonic myocardial morphology without any other cardiac anomalies. Arrhythmias are frequently present, including both tachyarrhythmia and conduction disturbance. Our study aimed to describe the electrocardiographic findings and to correlate them with the clinical presentation and cardiac magnetic resonance imaging findings. METHODS: We retrospectively reviewed 24 patients diagnosed with isolated ventricular noncompaction (IVNC) by cardiac magnetic resonance imaging. Correlations were investigated between arrhythmias and the site of ventricular noncompaction, number of noncompacted segments, presence of fibrosis, and left ventricular dysfunction. RESULTS: The mean age was 42.7±13.1 years. Patients were first presented with heart failure in 41.7% and arrhythmia in 45.8%. Electrocardiogram was abnormal in 91.6% of patients; the most common anomaly was left bundle branch block (LBBB) (41.7%), followed by supraventricular arrhythmias (29.1%), repolarization abnormalities (29.1%), and ventricular tachycardia (20.8%). A normal left ventricular systolic function was frequently observed in patients who first presented with rhythm disorders than heart failure (p=0.008). There was also a delayed diagnosis of IVNC when presented with arrhythmia versus heart failure (p=0.02). We found no correlation between arrhythmias and the noncompaction site or fibrosis, except for LBBB, which was associated to left ventricle lateral wall involvement (p=0.028). No correlation between systolic dysfunction and the number of noncompacted segments, fibrosis, or arrhythmia was demonstrated. CONCLUSION: While electrocardiographic abnormalities are frequent in isolated ventricular noncompaction, no specific patterns were identified. More large studies are needed for stratification of arrhythmic risk of this highly arrhythmogenic substrate.