Dilated cardiomyopathy: An unusual and severe condition in juvenile systemic lupus erythematosus.

BACKGROUND: Systemic juvenile lupus erythematosus can affect any organ including the heart. While pericarditis and endocarditis are the most common cardiac complications, dilated cardiomyopathy remains rare. We report the full recovery of dilated cardiomyopathy in a girl with juvenile lupus. CASE PRESENTATION: A 7-year-old girl presented with persistent fever, weight loss, alopecia, positive anti-lupus antibodies, and decreased complement. Examination found dyspnea, tachycardia, and hypotension. Chest X-ray revealed an enlarged cardiac silhouette, and echocardiography showed a left ventricular ejection fraction of 35%. After excluding other causes, systemic lupus erythematosus related dilated cardiomyopathy was selected. Heart failure treatment, Prednisone, and hydroxychloroquine were prescribed. On day three, she developed macrophage activation syndrome which responded to methylprednisolone boluses. Clinical and biological improvement was observed after 4 weeks, normalization of echocardiography after 4 months. CONCLUSION: A review of the literature confirmed the rare and severe nature of dilated cardiomyopathy in juvenile lupus emphasizing the importance of performing echocardiography at the slightest cardiac sign.

An infective endocarditis complicated by multiple septic emboli: case report.

BACKGROUND: Owing to challenges associated with heart failure and cardiac embolism, infectious endocarditis emerges as a critical pathology characterized by elevated mortality and morbidity rates. Our case stands out as a rare instance of endocarditis involving multisystem embolization, with a successful outcome. CASE PRESENTATION: We present the case of an 81-year-old man whose admission was further complicated by various septic emboli affecting the brain (manifesting as a brain abscess and ischemic stroke), spleen (resulting in splenic infarction), and spinal cord. The patient received a diagnosis of infective endocarditis affecting the native mitral valve. Following prompt medical and surgical intervention, the overall progression was favorable despite encountering several challenges. CONCLUSIONS: This case is notable for its detailed description and analysis of the multiple embolic events. More importantly, it underscores the significance of timely surgical intervention and the collaborative approach of a heart team in the face of complicated endocarditis marked by numerous septic emboli. Despite the typically grim prognosis associated with such cases, the outcomes emphasize the positive impact of timely surgery on prognosis.

Unusual coexistence of restrictive heart disease and Kallmann syndrome: a case report.

BACKGROUND: Kallmann-Morsier syndrome is a rare disease characterized by the association of congenital gonadotropic deficiency and anosmia or hyposmia. The cardiac manifestations associated with this syndrome are little known. Through this case, we will characterize the cardiac involvement of this disease in the light of what is already described in the literature. CASE PRESENTATION: We report the case of a young patient who presented with a picture of cardiac decompensation revealing restrictive heart disease. In her exploration, she was found to have primary amenorrhea, leading to the diagnosis of Kallmann syndrome. Medical treatment was optimized for the management of her cardiac decompensation as well as hormonal replacement treatment for her delayed puberty and growth. CONCLUSIONS: Cardiac manifestations in Kallmann-Morsier syndrome are few reported in the literature, and restrictive heart disease is uncommon with no cases report till now. This association suggests a possible common genetic origin that should be explored in the future.

A rare clinical case of systemic AA amyloidosis with cardiac involvement complicating ankylosing spondylitis: a case report.

BACKGROUND: Ankylosing spondylitis (AS) is a type of chronic inflammation that is most prevalent in young adults and is characterized by an inflammatory enthesiopathy that gradually develops toward ossification and ankylosis. If inflammation is left unchecked, it can potentially lead to complications such as secondary amyloidosis, also known as AA amyloidosis, involving the deposition of amyloid serum A protein. Our case presents with a thyroid localization of AA amyloidosis which is secondary to this AS. Such a case has been described in only four cases in the literature. Cardiac localization of AA amyloidosis has been exceptionally described in the literature. CASE PRESENTATION: We report the case of a young patient with severe AS complicated by secondary amyloidosis with thyroid, cardiac, and probably renal localization. He was treated with anti-TNF therapy, and his condition improved significantly. CONCLUSIONS: Our case presents several localizations of AA amyloidosis secondary to this AS. Although cardiac involvement is rare in secondary AA amyloidosis, it should always be screened for, even in a cardiacly asymptomatic patient.

ST-elevation myocardial infarction complicated by ventricular tachycardia revealing coronary artery ectasia: a case report.

BACKGROUND: Coronary artery ectasia is a rare angiographic finding and results from a disease process that compromises the integrity of the vessel wall. Its prevalence ranges between 0.3% and 5% of patients undergoing coronary angiography (Swaye et al. in Circulation 67:134-138, 1983). Coronary artery ectasia in patients with ST-elevation myocardial infarction is associated with an increased risk of cardiovascular events and death after percutaneous coronary intervention. CASE PRESENTATION: We report the case of a 50-year-old male Caucasian patient, admitted for ventricular tachycardia at 200 beats per minute hemodynamically not tolerated that was reduced by external electric shock. Electrocardiogram after cardioversion showed a sinus rhythm with anterior ST-elevation myocardial infarction. Thrombolytic therapy was chosen after exposure to dual antiplatelet therapy and heparin since the expected time to percutaneous coronary intervention was greater than 120 minutes from first medical contact and the patient presented within 12 hours of onset of ischemic symptoms. The electrocardiogram after thrombolysis showed the resolution of the ST segment. The echocardiogram showed a dilated left ventricle with severe dysfunction with left ventricle ejection fraction at 30%. Coronary angiography revealed non-obstructive giant ecstatic coronaries without any thrombus. A check-up to look for possible etiologies for coronary artery ectasia was carried out and returned normal. Since no etiology for coronary artery ectasia was found at the limit of available exams in our center, the patient was discharged with antiplatelet therapy (aspirin 100 mg once a day) and heart failure treatment with an indication for an implantable cardiac defibrillator. CONCLUSIONS: Coronary artery ectasia in the context of acute myocardial infarction is a rare condition that may have dangerous complications, especially when an optimal treatment for ecstatic culprit vessels is still controversial.

Rare case series of adult interrupted aortic arch.

Interrupted aortic arch (IAA) is a rare congenital heart condition where there is a complete discontinuation between the ascending and descending aorta. The association with a patent ductus arteriosus or developed arterial collateral allows survival until adulthood in extremely rare cases. We report a case series of adult forms of IAA. Even if the incidence is very rare, IAA should be could excluded in the setting of resistant asymmetrical hypertension. The first case is singular regarding its association with a bicuspid aortic valve and aortic aneurysm, while the second case is characterized by massive left ventricular hypertrophy. The diagnosis was suspected on echocardiographic findings and confirmed by computed tomography angiography. Both patients refused surgical repair given the high operative risk. Learning objectives: -The evaluation of severe resistant high blood pressure should include complementary investigation for adult form interrupted aortic arch.-To understand the major impact of multimodality imaging for the recognition, localization, and stratification of interrupted aortic arch.

[Cardiovascular diseases in the young patients : Place of the carotid intima-media thickness at the University Hospital-Ibn Rochd of Casablanca]. / Les maladies cardiovasculaires chez les jeunes patients : place de l'épaisseur intima-média carotidienne au CHU-Ibn Rochd de Casablanca.

BACKGROUND: The measurement of intima-media thickness (IMT), long neglected, is a fundamental element in the prediction of cardiovascular events. Vascular Doppler ultrasonography is one of the tools needed to objectify atherosclerosis. OBJECTIVES: The aim of our study is to establish a correlation between cardiovascular events and intima-media thickness. METHODS: We conducted a prospective, cross-sectional and descriptive study over a period of 6 months in the cardiology department of Chu-Ibn Rochd, based on vascular Doppler ultrasound data, presenting a risk factor and or vascular cardiovascular disease of the supra-aortic trunks using a high frequency linear probe (7.5 MHZ) connected to a GENERAL Electric ultrasound machine. Intima-media thickness was considered normal < 0.8 mm in adult patients aged 40-60 years. RESULTS: IMT ≥ 0.8 mm was found in 89.2% of patients out of a total of 102 patients recruited, predominantly male (54.9%) with a mean age of 56 ± 9 years. Cardiovascular risk factors and cardiovascular diseases were associated with an increase in IMT. Diabetics were the most frequent to have an elevated IMT, found at 50.9%, followed by 43.1% of hypertensives, 27.4% respectively between haemodialysis patients and ischemic strokes and 14% in coronary patients with indication of bypass surgery. CONCLUSIONS: Elevated IMT is associated with cardiovascular events and should be sought as their primary indicator in future large-scale studies so that it can be routinely assessed for a cardiovascular risk factor.

Safety of transcatheter patent ductus arteriosus closure in small weight infants.

BACKGROUND: Patent ductus arteriosus (PDA) is a frequent congenital heart disease. Its transcatheter closure has become the treatment of choice in children and adults. However, the device closure of PDA in children with low weight is still challenging with high rate of complications. The aim of this study was to report further experience with trancatheter closure of PDA using the Amplatzer Duct Occluder(ADO) for children weighing less or equal to 8 kg. METHODS: Twenty-two patients (5 male, 17 female) underwent transcatheter closure of a PDA using ADO at a median age of 10 months (range 4 to 26) and a median weight of 7 kg (range 4.3 to 8). Follow-up evaluations were performed with Doppler echocardiography at 24h, and at 6 and 12 months. RESULTS: The device was implanted successfully in all patients. The median fluoroscopy time was 17.25 min (range 10 to 29). Within 24h, color Doppler revealed complete closure in 15 patients (68%), the other patients had a small residual shunt. No deaths were associated with the procedure. Two patients had a slight aortic protrusion of the device without coarctation and in one patient the device encroached partially on the left pulmonary artery without significant acceleration on Doppler echocardiography. All patients were discharged home the next day. All patients completed the 6-month follow-up with complete closure in 18 patients (81%). At the last evaluation in all patients at any time, there has been documentation of complete PDA closure in 20 (91%) of 22 patients. CONCLUSION: In patients weighing less or equal to 8 kg, percutaneous closure of PDA using an ADO is a safe and effective procedure.

Combined venous and arterial thrombosis revealing underlying myeloproliferative disorder in a young patient: a case report.

BACKGROUND: Myeloproliferative neoplasms (MPNs) such as polycythemia Vera (PV) and Essential Thrombocythemia (ET) can be associated with a high risk of both venous and arterial thrombosis. However, the co-existence between these two complications is very rare and has never been described before, especially in young adults with no known history of MPNs. CASE PRESENTATION: We report the case of a 39 year-old Caucasian Moroccan male patient without cardiovascular risk factors (CVRF), who presented with acute chest pain. He also suffered from a severe headache since 2 weeks. Electrocardiogram (ECG) showed ST segment elevation myocardial infarction in the posterolateral leads. Cerebral Computed Tomography (CT) scan revealed subarachnoid hemorrhage (SAH), and cerebral Magnetic Resonance Angiography (MRA) found a Superior Sagittal Sinus Thrombosis (SSST). Routine blood tests showed raised hemoglobin and hematocrit in addition to leukocytosis and thrombocythemia. His coronary angiography revealed a thrombus in the ostial left circumflex artery (LCX). Further testing revealed positive Janus kinase 2 (JAK2) V617F mutation and low erythropoietin level, confirming the diagnosis of PV according to the 2008 World Health Organization (WHO) criteria. Antithrombotic and anti-ischemic treatments, in addition to myelosuppressive therapy with hydroxyurea, were initiated with a good clinical and biological evolution. CONCLUSION: This case shows that MPNs are an important cause of thrombosis, especially in young patients with no other risk factors. Early diagnosis and appropriate management are fundamental before the occurrence of life-threatening complications that can sometimes present in unusual forms associating arterial and venous thrombotic events.

Echocardiographic determinants of successful balloon dilation in pulmonary atresia with intact ventricular septum.

AIMS: Pulmonary atresia with intact ventricular septum (PA-IVS) is a complex congenital heart malformation with multitude therapeutic approaches. Recently, balloon valvotomy has been used as an alternative to primary surgery. This study aimed to identify echocardiographic markers of balloon dilation success in PA-IVS. METHODS AND RESULTS: The echocardiograms of 26 patients diagnosed with PA-IVS who underwent primary pulmonary balloon valvotomy were reviewed. Tricuspid annulus Z-score, pulmonary annulus Z-score, right ventricular (RV) to left ventricular (LV) length ratio, RV to LV transverse diameter ratio, and tricuspid valve (TV) to mitral valve (MV) annulus diameter ratio were measured. The tricuspid Z-score, pulmonary Z-score, RV/LV length ratio, RV/LV diameter ratio, and the TV/MV ratio were significantly different in the group which had successful balloon dilation compared with that failed. Based on decision trees using the Weka classifier package, only RV/LV diameter ratio >0.76 predicts a 92.3% success rate. In contrast, an RV/LV diameter ratio < or =0.76 associated with RV/LV length ratio < or =0.70 predicts 100% failure. CONCLUSION: Successful balloon dilation in membranous type PA-IVS can be predicted by a scoring system using RV/LV diameter ratio and RV/LV length ratio.

Successful balloon valvuloplasty of a subpulmonic membrane associated with cor triatriatum dexter: a case report.

BACKGROUND: Subpulmonic membrane as a cause of right ventricular outflow tract obstruction in patients with concordant ventriculoarterial connection and intact ventricular septum is considered to be rare. Association with cor triatriatum dexter and success of subpulmonic balloon valvuloplasty have never been reported, at least to the best of our knowledge. CASE PRESENTATION: A 3-year-old Moroccan boy was referred to our tertiary care hospital with complaints of dyspnea on moderate exertion. A physical examination revealed parasternal lift, systolic thrill, and a 4/6 ejection systolic murmur, best heard over the left second intercostal space. His oxygen saturation was 99% on room air. Two-dimensional echocardiography showed a discrete circumferential membrane just below the pulmonic valve and a right atrial membrane. Continuous wave Doppler interrogation showed peak systolic pressure gradient of 85 mmHg across the subpulmonic membrane and no significant gradient across the right atrial membrane. Balloon dilation of the subpulmonic membrane was performed and the pressure gradient came down to 50 mmHg. During follow-up, he reported marked improvement in terms of exercise tolerance. Transthoracic echocardiography showed residual pressure gradient of approximately 40 mmHg across the membrane. Surgery resection of the two membranes was programmed, but he died after an extracardiac disease (appendicular peritonitis). CONCLUSIONS: Subpulmonic membrane as an isolated cause of right ventricular outflow tract obstruction is rare. Its association with cor triatriatum dexter is even less common. The result of percutaneous balloon valvuloplasty of subpulmonic membrane is an interesting alternative while waiting for surgery. Surgery is currently the preferred modality of treatment with the resection of both right atrial and subpulmonic membranes.

[A rare and severe complication related to acenocoumarol therapy: intra-alveolar bleeding]. / Une complication rare et grave du traitement par l'acénocoumarol: l'hémorragie intra-alvéolaire.

Intra-alveolar bleeding is a rare and severe medical emergency due to numerous causes. We report the clinical case of a patient who could contribute to extend the literature on this subject. The study included a 62-year old man, with a history of a trial fibrillation, under anti-vitamins K antagonist admitted with dyspnoea of sudden onset associated with haemoptysis and practising self-medication using non-steroidal anti-inflammatory drugs. X-rays and chest scan showed diffuse bilateral alveolar opacities. Haemostatic screening tests on admission showed non-coagulable INR. The diagnosis of intra-alveolar bleeding was clinically and radiologically suspected and then confirmed by bronchial endoscopy with broncho-alveolar lavage (BAL) which detected uniformly hemorrhagic liquid. Previous studies of similar complications occurring after anti-vitamins K antagonists assumption are rare. In conclusion, it seems very important to emphasize the interest of strict and optimal clinico-biological monitoring of patients treated in anti-vitamins K antagonists to avoid an overdose which could contribute to a life-threatening severe haemorrhagic event.

Dilated cardiomyopathy: A rare and late complication of the hemolytic-uremic syndrome.

Hemolytic uremic syndrome (HUS) is a non-exceptional, progressive complication of acute gastroenteritis in children, especially secondary to Escherichia coli infection. It is responsible for significant morbidity and significant mortality (10% of deaths) because of acute renal failure which often complicates it. Dilated cardiomyopathy is a rare but critical extra renal manifestation of the HUS. This article highlights the importance of considering the diagnosis of associated cardiomyopathy in the acute phase of HUS and the following months. A five-year-old boy presented with HUS with acute renal failure requiring peritoneal dialysis for 24 days. No cardiac signs appeared during the acute phase of the disease. After dialysis and normalization of blood pressure, fluid, and electrolyte disturbance, severe dilated cardiomyopathy with cardiac failure appeared three months later without definite etiology. A review of the literature confirmed the rare and severe nature of cardiac lesions occurring in HUS. Dilated cardiomyopathy is a rare but important extra renal manifestation of the HUS and is best demonstrated by echocardiography. A cardiac manifestation should also be screened for in the acute phase of HUS and several months later. .

Immediate impact of successful percutaneous mitral valve commissurotomy on right ventricular function.

AIMS: Mitral stenosis (MS) affects right ventricular (RV) function as a result of myocardial and haemodynamic factors. Although the long-term effects of mitral commissurotomy are well known, the aim of this study was to evaluate the immediate impact of percutaneous mitral commissurotomy (PTMC) on RV function in patients with MS. METHODS AND RESULTS: Twelve female patients (mean age 29 +/- 7 years) with isolated rheumatic MS, all in sinus rhythm, were studied before and 24-48 h after PTMC. Multiple parameters of global and longitudinal RV function were assessed by conventional and tissue Doppler imaging echocardiography. Immediately following PTMC, mitral valve area increased from 0.91 +/- 0.29 cm(2) to 1.86 +/- 0.43 cm(2) (P < 0.0001) and RV outflow tract fractional shortening (RVOTfs) increased from 57 +/- 15% to 72 +/- 12% (P = 0.002). There was a significant decrease in systolic pulmonary artery pressure from 46.4 +/- 32.1 mmHg to 29.1 +/- 13.4 mmHg (P = 0.02), in the RV Tei index from 0.44 +/- 0.025 to 0.29 +/- 0.17 (P = 0.021), in myocardial acceleration during isovolumic contraction (IVA) at the lateral tricuspid annulus from 0.36 +/- 0.11 m/s(2) to 0.25 +/- 0.07 m/s(2) (P = 0.023), and in isovolumic contraction velocities at the lateral tricuspid annulus from 11.03 +/- 3.37 cm/s to 8.50 +/- 2.04 cm/s (P = 0.034). In contrast, tissue Doppler velocities at the septal tricuspid annulus remained unchanged. The RV Tei index correlated with systolic pulmonary artery pressure before but not after PTMC (r = 0.70, P = 0.01, and r = 0.270, P = 0.053). CONCLUSION: Immediately after successful PTMC, significant decrease in RV contractility as assessed by IVA was observed whereas other parameters of infundibular and global RV function as assessed by RVOTfs and Tei index showed significant improvement. These discordant results may be related to the relative insensitivity of currently available echocardiography parameters of RV function that are not completely immune to loading conditions. Further work using larger numbers of patients is needed to confirm our findings and to assess their utility in patient follow-up and management.

Haemodialysis: effects of acute decrease in preload on tissue Doppler imaging indices of systolic and diastolic function of the left and right ventricles.

AIMS: Conventional echocardiographic (ECHO) parameters of left ventricular (LV) and right ventricular (RV) systolic and diastolic function have been shown to be load-dependent; however, the impact of preload reduction on tissue Doppler (TD) parameters of LV and RV function is incompletely understood. The aim of this study was to examine the effect of acute preload reduction by haemodialysis (HD) on conventional (ECHO) and TD imaging (TDI) indices of systolic and diastolic function of the left and right ventricles. METHODS AND RESULTS: Seventeen chronically uremic patients (age 31 +/- 10 years), without overt heart disease underwent conventional 2D and Doppler ECHO together with measurement of longitudinal mitral and tricuspid annular motion velocities. Fluid volume removed by HD was 2706 +/- 1047 cm(3). Haemodialysis led to reduction in LV end-diastolic volume (P < 0.0001), end-systolic volume (P < 0.001), peak early (E wave) transmitral flow velocity (P = 0.0001), and the ratio of early to late Doppler velocities of diastolic mitral inflow (P = 0.021). For the LV, early diastolic (E0) TDI velocities and the ratio of early to late TDI diastolic velocities (E0/A0) only on the septal side of the mitral annulus decreased significantly after HD (P = 0.0001 and P = 0.009, respectively). In a subgroup of seven patients who sustained significantly larger fluid volume loses following HD, E0 and the ratio of E0/A0 at the lateral side of mitral annulus also decreased suggesting a greater resistance of the lateral annulus to preload changes. Systolic velocities decreased after HD on both sides of mitral annulus (septal 6.90 +/- 1.10 vs. 5.97 +/- 1.48 cm/s, P = 0.006; lateral 8.68 +/- 2.67 vs. 6.94 +/- 1.52 cm/s, P = 0.011). For the RV, systolic tricuspid annular velocities decreased (13.45 +/- 1.47 vs.11.73 +/- 1.90 cm/s, P = 0.002) together with early diastolic velocities after HD (13.95 +/- 2.90 vs.10.62 +/- 2.45 cm/s, P = 0.0001). Both systolic and early diastolic tricuspid annular velocities correlated directly with fluid removal (P < 0.01). CONCLUSION: This study shows that both systolic and diastolic TDI velocities of the LV and RV are preload-dependent. However, the lateral mitral annulus is more resistant to preload changes than either the septal mitral annulus or the lateral tricuspid annulus.

Carcinoid heart disease revealed by cyanosis with both right and left valvular involvement: a case report.

BACKGROUND: Carcinoid heart disease is a frequent complication of carcinoid syndrome. It is related to the release by the carcinoid tumor and/or its metastases of bioactive substances such as serotonin. It is characterized by right-sided valvular involvement and can lead to right-sided heart failure. It is a prognostic factor of carcinoid syndrome. CASE PRESENTATION: We report the case of a 53-year-old African woman with an endocrine tumor of her small intestine complicated by carcinoid heart disease, revealed by right-sided heart failure. The diagnosis was confirmed by transthoracic echocardiography, which showed a severe tricuspid regurgitation with a patent foramen ovale, and by increased serum chromogranin A and urinary 5-hydroxyindoleacetic acid. Initially she was treated with medical therapy (furosemide and injection of somatostatin). Afterwards she was proposed for surgery. The evolution of her treatment was good. CONCLUSIONS: Carcinoid syndrome is complicated in 60% of the cases of a heart disease, and is responsible for an important morbidity and mortality. The prognosis of patients with carcinoid heart disease has improved in recent years through somatostatin analogues and the cardiac surgery.

Impact of hemodialysis on P-wave amplitude, duration, and dispersion.

Atrial fibrillation (AF) is a frequent arrhythmia in patients undergoing hemodialysis (HD). P wave duration (PWdu) and P wave dispersion (PWdi) have been shown to be predictors of emerging AF in different clinical conditions. We sought to study the impact of HD on PWdu, PWdi, and P wave amplitude in a cohort of patients undergoing HD. Seventeen patients (8 men, 31+/-10 years) were studied. Echocardiography parameters, the sum of the amplitude of P waves in all 12 ECG leads (SP), mean PWdu, and PWdi, along with a host of other parameters (body weight, heart rate, electrolytes and hemoglobin/hematochrit) were measured 1/2h, before and after, HD. SP increased (11.8+/-3.9 vs 15.3+/-4.0 mm, p = 0.004), mean PWdu remained stable (82.7+/-11.1 vs 81.6+/-10.5 ms, p = 0.606), PWdi decreased (51.7+/-19.1 vs 41.7+/-19.1 ms, p = 0.03), and left atrial dimension decreased (37.96+/-3.90 vs 30.62+/-3.38 mm, p = 0.0001), after HD. The change in PWdi correlated with fluid removed by HD (r = -0.55, p = 0.022). Re-measurements of P-wave parameters in a random group of 11 of the 17 patients revealed augmented SP (p = 0.01), and stable mean PWdu (p = 0.36), and PWdi (p = 0.31), after HD. Fluid removed by HD leads to an increase in SP, a stable mean PWdu, and decrease (or stability on re-measurement in a subgroup of patients) in PWdi. Stability of PWdu may be due to the effects of augmentation of the P-wave amplitude and the reduction of the left atrial volume, cancelling each other. Variability of PWdi may stem from the occasional impossibility to measure PWdu (or measure it correctly) in minute P-waves in certain ECG leads, which in turn profoundly affects the PWdi.

Spectrum of cardiac lesions associated with Isolated Cleft Mitral Valve and their impact on therapeutic choices.

BACKGROUND: Isolated cleft mitral valve (ICMV) may occur alone or in association with other congenital heart lesions. The aim of this study was to describe the profile of cardiac lesions associated with ICMV and their potential impact on therapeutic management. METHODS: We conducted a descriptive study with data retrieved from the Congenital Heart Disease (CHD) single-center registry of our institution, including patients with ICMV registered between December 2008 and November 2014. RESULTS: Among 2177 patients retrieved from the CHD registry, 22 (1%) had ICMV. Median age at diagnosis was 5 years (6 days to 36 years). Nine patients (40.9%) had Down syndrome. Seventeen patients (77.3%) had associated lesions, including 11 (64.7%) with accessory chordae in the left ventricular outflow tract (LVOT) with no obstruction, 15 (88.2%) had ventricular septal defect (VSD), three had secundum atrial septal defect, and four had patent ductus arteriosus. Thirteen patients (59.1%) required surgical repair. The decision to proceed with surgery was mainly based on the severity of the associated lesion in eight patients (61.5%) and on the severity of the mitral regurgitation in four patients (30.8%). In one patient, surgery was decided based on the severity of both the associated lesion and mitral regurgitation. CONCLUSION: Our study shows that ICMV is rare and strongly associated with Down syndrome. The most common associated cardiac abnormalities were VSD and accessory chordae in the LVOT. We conclude that cardiac lesions associated with ICMV are of major interest, since in this study patients with cardiac lesions were diagnosed earlier. The decision to operate on these patients must take into account the severity of both mitral regurgitation and associated cardiac lesions.

Congenital heart disease and Down syndrome: various aspects of a confirmed association.

BACKGROUND: Congenital heart disease (CHD) is frequently described in patients with Down syndrome (DS) and is the main cause of death in this population during the first two years of life. The spectrum of CHD patterns in DS varies widely worldwide; this variation could be due to sociodemographic, genetic and geographic factors. METHODS: A six-year retrospective, descriptive study was carried out from December 2008 to October 2014, based on the Paediatric Unit CHD registry of Ibn Rochd University Hospital. Clinical, echocardiographic and outcomes data were collected and sorted according to confirmation of the syndrome. RESULTS: Among 2 156 patients with CHD, 128 were identified with Down syndrome. The genders were equally represented (gender ratio 1) and the median age at diagnosis was 9.5 months (2 days to 16 years). The median age of mothers at delivery was 39 years (16-47). Of the 186 CHD lesions reported, the most common was atrioventricular septal defect (AVSD, 29%), followed by ventricular septal defect (VSD, 21.5%) and atrial septal defect (ASD, 19.9%). The most common associations of CHD were AVSD + ASD (10%) and VSD + ASD (7.8%). Surgery was the most common modality of treatment (54.3%). The overall mortality rate was 14.1%. CONCLUSION: Our study confirmed that the profile and type of CHD in DS in the Moroccan setting exhibited slight differences in the distribution of these CHDs compared with European neighbours and other Western countries. Further studies are needed to determine which variables have an impact on these differences.

Chronic permanent hypoxemia predisposes to mild elevation of liver stiffness.

AIM: To evaluate the impact of long term permanent hypoxemia noticed in patients with non operated congenital cyanogenic cyanotic cardiopathy on liver stiffness. METHODS: We included ten adult patients with non operated inoperate cyanotic cardiopathy and ten matched patients for age and gender admitted to the gastroenterology department for proctologic diseases; Clinical and laboratory data were collected [age, gender, body mass index, oxygen saturation, glutamate oxaloacetate transaminase (GOT), glutamate pyruvate transaminase (GPT), glycemia and cholesterol]. Measurement of hepatic stiffness by transient elastography was carried out in all patients using the Fibroscan device. All patients underwent an echocardiography to eliminate congestive heart failure. RESULTS: Among the patients with cyanotic cardiopathy, median liver stiffness 5.9 ± 1.3 kPa was greater than control group (4.7 ± 0.4 kPa) (P = 0.008). Median levels of GOT, GPT, gamma-glutamyltransferase, glycemia and cholesterol were comparable in cardiopathy and control group. In regression analysis including age, gender, body mass index, oxygen saturation, GOT, GPT, glycemia, cholesterol showed that only oxygen saturation was related to liver stiffness (r = -0.63 P = 0.002). CONCLUSION: Chronic permanent hypoxemia can induce mild increase of liver stiffness, but further studies are needed to explore the histological aspects of liver injury induced by chronic permanent hypoxemia.