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.

Severe Pulmonary Arterial Hypertension in Patients Treated for Hepatitis C With Sofosbuvir.

Development of direct-acting antiviral agents against hepatitis C virus (HCV) has changed the management of chronic HCV infection. We report three cases of newly diagnosed or exacerbated pulmonary arterial hypertension (PAH) in patients treated with sofosbuvir. All patients had PAH-associated comorbidities (HIV coinfection in two, portal hypertension in one) and one was already being treated for PAH. At admission, all patients presented with syncope, World Health Organization functional class IV, right-sided heart failure, and extremely severe hemodynamic parameters. After specific PAH therapy, the clinical and hemodynamic properties for all patients were improved. Severity and acuteness of PAH, as well as chronology, could suggest a causal link between HCV treatment and PAH onset. We hypothesize that suppression of HCV replication promotes a decrease in vasodilatory inflammatory mediators leading to worsening of underlying PAH. The current report suggests that sofosbuvir-based therapy may be associated with severe PAH.

Cardiac consequence of misdiagnosed vascular complication of spinal lumbar surgery: 6 years of diagnosis delay.

Ilio-caval fistula is a rare complication of lumbar disk surgery that may pose a real diagnostic challenge. We report a case of a 50-year-old woman with overlooked massive right ilio-caval fistula complicating lumbar surgery 6 years previously, and who presented with refractory right heart failure misdiagnosed as chronic pericarditis. The combination of right heart failure and a periumbilical murmur should alert clinicians to investigate with the appropriate imaging tests to confirm the diagnosis. .