Cafe-au-lait spots with resistant hypertension are an indicator of pheochromocytoma: a rare case report.

This case report is one of the rare cases of bilateral pheochromocytoma associated with neurofibromatosis type 1. The interest lies in the clinical form in which the diagnosis was revealed. We report the case of a 38-year-old woman admitted for severe hypertension resistant to triple therapy. Clinical examination revealed Cafe-au-lait spots, which are pigmented birthmarks that appear as patches on the skin with a light to dark brown colour. More than six spots are present in an estimated 95% of people diagnosed with neurofibromatosis type 1 (NF1). Abdominal computed tomography (CT) showed bilateral adrenal tumor involvement. The diagnosis of pheochromocytoma was made by measuring urinary Vanillylmandelic acid (VMA). The evolution was favorable after the excision of the tumor, with normalization of blood pressure. In conclusion: resistant hypertension with café au lait spots may indicate pheochromocytoma, especially bilateral, suggesting an underlying genetic condition like NF1, warranting systematic screening.

En este reporte se documenta un caso raro de feocromocitoma bilateral asociado a neurofibromatosis tipo 1. El interés radica en la forma clínica en la que se reveló el diagnóstico. Presentamos el caso de una mujer de 38 años que ingresa por hipertensión arterial severa resistente a triple terapia. El examen clínico reveló manchas café con leche, que son marcas de nacimiento pigmentadas que aparecen como manchas en la piel y que son de un color marrón claro a oscuro. Se estima que el 95% de las personas diagnosticadas con neurofibromatosis tipo 1 (NF1) presentan más de seis manchas. La tomografía computarizada (TC) abdominal mostró afectación tumoral suprarrenal bilateral. El diagnóstico de feocromocitoma se realizó mediante la medición del ácido vanilmandélico (VMA) urinario. La evolución fue favorable tras la extirpación del tumor, con normalización de la presión arterial. En conclusión, la hipertensión resistente con manchas café con leche puede indicar feocromocitoma, especialmente si es bilateral, lo que sugiere una afección genética subyacente como la NF1, que justifica un tamizaje sistemático.

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.

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.

[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.

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.

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.

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.

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.

Spectrum of cardiac lesions associated with Isolated Cleft Mitral Valve and their impact on therapeutic choices / Espectro de Lesões Cardíacas Associadas à Fissura Isolada da Valva Mitral e Impacto das Lesões Sobre as Opções Terapêuticas

Abstract 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.

Resumo Fundamento: A fissura isolada da valva mitral (FIVM) pode ocorrer isoladamente ou em associação com outras lesões cardíacas congênitas. O objetivo deste estudo foi descrever o perfil das lesões cardíacas associadas à FIVM e o potencial impacto dessas lesões na terapêutica. Métodos: Realizamos um estudo descritivo com dados obtidos do registro unicêntrico Congenital Heart Disease (CHD) de nossa instituição incluindo pacientes com FIVM registrados entre dezembro de 2008 e novembro de 2014. Resultados: Entre 2177 pacientes identificados no registro CHD, 22 (1%) apresentavam FIVM. A mediana de idade ao diagnóstico foi de 5 anos (6 dias a 36 anos). Nove pacientes (40,9%) apresentavam síndrome de Down. Dezessete pacientes (77,3%) apresentavam lesões associadas, incluindo 11 (64,7%) com cordoalha acessória na via de saída do ventrículo esquerdo (VSVE) sem obstrução, 15 (88,2%) com comunicação interventricular (CIV), três com comunicação interatrial do tipo ostium secundum e quatro com persistência do canal arterial. Treze pacientes (59,1%) necessitaram reparo cirúrgico. A decisão de prosseguir com a cirurgia foi baseada principalmente na gravidade da lesão associada em oito pacientes (61,5%) e na gravidade da regurgitação mitral em quatro pacientes (30,8%). Em um paciente, a decisão por cirurgia foi baseada na gravidade tanto da lesão associada quanto da regurgitação mitral. Conclusão: Nosso estudo mostra que a FIVM é rara e está fortemente associada à síndrome de Down. As anormalidades cardíacas associadas mais comuns foram a CIV e cordoalha acessória na VSVE. Concluímos que as lesões cardíacas associadas à FIVM são de grande interesse, já que neste estudo, pacientes com lesões associadas foram diagnosticados mais precocemente. A decisão cirúrgica deve levar em conta a gravidade tanto da regurgitação mitral quanto das lesões cardíacas associadas.

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.

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.