Cardiopatías congénitas asociadas a la microdeleción 22q11. 2, en un hospital pediátrico / Congenital heart defects associated with a 22q11. 2 microdeletion at a pediatric hospital

Introducción: El síndrome de deleción 22q11.2, también llamado síndrome Velo-Cardio-Facial (VCFS/del22q11.2) o síndrome de DiGeorge, es una entidad causada por una anomalía cromosómica, deleción en la región q11.2 (brazo largo) del cromosoma 22. Se trata de una enfermedad multisistémica de expresión variable que afecta el aparato cardiovascular, la inmunidad, las funciones endocrinológicas, la cavidad oral, el desarrollo neurocognitivo, con una expresión facial particular. La prevalencia estimada es de 1:2000/4000. Objetivos: Identificar y describir las cardiopatías congénitas más frecuentemente asociadas a pacientes con síndrome de microdeleción 22q11.2. Materiales y métodos: Estudio descriptivo, transversal y retrospectivo que analiza los pacientes con diagnóstico de microdeleción 22q11.2 atendidos en el Hospital Garrahan desde Octubre de 1998 hasta Febrero 2018. El criterio diagnóstico fueron signos clínicos compatibles y la presencia de la microdeleción 22q11.2 por técnica de FISH o MLPA. Resultados: Población: 321 pacientes, 151 Femeninos (47%) 170 Masculinos (53%). Rango etario: 0 a 197 meses (1 día a 16,4 años). Mediana de edad al diagnóstico clínico: 31 meses. El 74,4% (239/321) de los pacientes evaluados con microdeleción 22q11.2 tuvieron cardiopatías congénitas asociadas a facies peculiar. Las cardiopatías congénitas más frecuentemente asociadas fueron conotroncales. De los pacientes con cardiopatías congénitas el 68,6% requirió cirugía cardiovascular. Fallecieron 24 pacientes (10%) con cardiopatías congénitas asociadas y en el 93% la causa de muerte estuvo relacionada a la afección cardiológica. Conclusiones: Los pacientes con microdeleción 22q11.2 se asocian con un alto porcentaje de cardiopatías congénitas, la gran mayoría son complejas (conotroncales) y requieren resolución quirúrgica en los primeros años de vida. Es de vital importancia la evaluación multidisciplinaria de este grupo especial de pacientes con cardiopatía asociada a otras alteraciones extra cardíacas para el diagnóstico precoz y tratamiento oportuno (AU)

Introduction: 22q11.2 deletion syndrome, also called velocardiofacial syndrome (VCFS/del22q11.2) or DiGeorge syndrome, is a condition caused by chromosomal abnormality, a deletion in the q11.2 region (long arm) of chromosome 22. VCFS is a multisystem disease of variable expression that affects the cardiovascular, immune, and endocrine systems, the oral cavity, neurocognitive development, and is associated with specific facial features. The estimated prevalence is 1:2000/4000. Objectives: To identify and describe the most common congenital heart defects associated with 22q11.2 micro-deletion syndrome. Materials and methods: Descriptive, cross-sectional, and retrospective study analyzing patients diagnosed with a 22q11.2 microdeletion seen at Garrahan Hospital from October 1998 to February 2018. Diagnostic criteria were compatible clinical signs and the presence of a 22q11.2 microdeletion identified by FISH or MLPA. Results: Population: 321 patients, 151 female (47%) and 170 Male (53%). Age range: 0 to 197 months (1 day to 16.4 years). Median age at clinical diagnosis: 31 months. Overall, 74.4% (239/321) of patients with a 22q11.2 microdeletion had congenital heart defects associated with a peculiar facies. The most commonly associated congenital heart defects were conotruncal. Of the patients with congenital heart defects, 68.6% required cardiovascular surgery. Of the patients with congenital heart defects 24 patients died (10%) and in 93% the cause of death was related to the heart disease (p 0.002). Conclusions: A high percentage of patients with a 22q11.2 microdeletion have congenital heart defects, which are complex (conotruncal) in the majority, requiring surgical treatment in the first years of life. Multidisciplinary evaluation of this special group of patients with heart defects associated with other extracardiac disorders is essential for an early diagnosis and timely treatment (AU)

Percutaneous closure of a post-traumatic ventricular septal defect with a patent ductus arteriosus occluder

OBJECTIVE: Ventricular septal defects resulting from post-traumatic cardiac injury are very rare. Percutaneous closure has emerged as a method for treating this disorder. We wish to report our experience in three patients who underwent percutaneous closure of a post-traumatic ventricular septal defect with a patent ductus arteriosus occluder. METHODS: We treated three patients with post-traumatic ventricular septal defects caused by stab wounds with knives. After the heart wound was repaired, patient examinations revealed ventricular septal defects with pulmonary/systemic flow ratios (Qp/Qs) of over 1.7. The post-traumatic ventricular septal defects were closed percutaneously with a patent ductus arteriosus occluder (Lifetech Scientific (Shenzhen) Co., LTD, Guangdong, China) utilizing standard techniques. RESULTS: Post-operative transthoracic echocardiography revealed no residual left-to-right shunt and indicated normal ventricular function. In addition, 320-slice computerized tomography showed that the occluder was well placed and exhibited normal morphology. CONCLUSION: Our experiences indicate that closure of a post-traumatic ventricular septal defect using a patent ductus arteriosus occluder is feasible, safe, and effective.

Eisenmenger syndrome: a silent killer in adults born with heart septal defect: experience from cardiac centre at Faisalabad

Eisenmenger syndrome is a term used to any large shunt between systemic and pulmonary circulation which results in high pulmonary arterial pressure and irreversible changes in pulmonary vascular bed with bidirectional shunt with physical limitation and shortness of breath. Eisenmenger syndrome particularly creates problems to fetus and mother in pregnancy and there is a particularly risk during aneasthesia while performing general surgery. We collected all consecutive patients above age 12 with atrial septal defect [ASD], ventricular septal defect [VSD] and patent ductus arteriosus [PDA] who attended echocardiography department between June 2008 to October 2010. We also analysed all pregnant females with Eisenmenger complex during this period. Out of 309 patients diagnosis of one of three shunts was confirmed either by transthorasic echocardiography with intravenous saline infusion or transesophageal echocardiography Eisenmenger syndrome was diagnosed in 39 patients [19 patients with ASD, 11 patients with VSD and 09 patients with PDA]. All 39 patients were followed till October 2010 and were alive. Among 03 pregnant females, 02 completed pregnancy without any hazard to child and mother. However tubal ligation was opted at time of delivery. One lady opted abortion and ligation to prevent further pregnancy. 05 patients underwent non cardiac surgery under general anesthesia without any complication. Eisenmenger syndrome a silent killer in a congenital treatable disease which is being neglected and diagnosis is being delayed. It seems Eisenmenger syndrome is on rise in Pakistan. We need to establish adult congenital heart disease department in each cardiac centre where trained persons should be appointed who had experience of congenital heart disease. Screening clinics need to be established at school and community level to diagnose this silent killer at a stage when pulmonary artery pressure is still reversible

Ventricular septal defect following disobliteration of right coronary artery

Reperfusion injury is thought to occur during coronary recanalisation but rarely produces clinically significant effects other than arrhythmia. We report an unusual case of Ventricular Septal Defect [VSD] developing after successful disobliteration of the right coronary artery. In this case clinical, electrocardiographic and biochemical evidence of myocardial injury developed 6 hours after successful percutaneous recanalization of the infarct related artery. A rapidly developing VSD soon became apparent necessitating surgical intervention to repair the defect. Unfortunately the patient died soon after surgery

Microdeletion study in children with selective congenital heart disease; an Iranian multicenter study

Determining the frequency of chromosome 22q11.2 microdeletion in children with congenital cardiac conotruncal abnormalities using Fluorescence in-situ Hybridization [FISH] technique and estimating relation between DiGeorge Syndrome and cardiac conotruncal abnormalities. One-hundred and eighty cases [106 Males, 74 Females] with selective congenital heart disease [conotruncal abnormalities] referred to the hospitals affiliated to Tehran University during 2004-2007 were evaluated by pediatric cardiologists. All patients were assessed for chromosome 22q11.2 microdeletion using FISH technique. Consequently, patients with 22q microdeletion were studied for T cell abnormalities. Median age of the patients at the time of study was 18 months [3d-16y]. The microdeletion of chromosome 22q11.2 was detected in 17 [9.5%] patients with conotruncal abnormalities, including 5 [29.4%] Tetralogy of Fallot plus Supravalvular Pulmonary Stenosis, 4 [23%] Truncus Arteriosus, 5 [29.4%] Pulmonary Artesia with Ventricular Septal Defect, 2 [11.8%] CO AO+Intrrupted Aortic Arch and one case of Valvular Pulmonary Stenosis. Five of uncorrelated cases had crananiofacial dysmorphism. Chromosome 22q11.2 microdeletion FISH study should be considered in patients with cardiac lesions particularly conotruncal abnormality with or without syndromic problems [craniofacial dysmorphism and developmental delay] to provide an appropriate genetic counseling with more accurate estimation of recurrence risk and ultimately prenatal diagnosis in affected families

Reparación temprana de comunicación interventricular como complicación del infarto agudo del miocardio

La ruptura del septo interventricular después de infarto es usualmente fatal, sin corrección quirúrgica. La tendencia actual es hacia una conducta más agresiva desde el punto de vista quirúrgico en todos los pacientes con inestabilidad hemodinámica. Se reporta el caso de un hombre de 51 años con antecedentes de hipertensión arterial, diabetes mellitus e infarto agudo anterior del miocardio, con oclusión completa proximal de la arteria descendente anterior y lesión significativa de la coronaria dercha, más ruptura del septo interventricular en su porción distal. Por signos de edema agudo del pulmón, se llevó a cirugía previa colocación de balón de contrapulsación aórtico. Se le colocó un puente aorto coronario de vena safena a la arteria coronaria derecha y se cerró el defecto interventricular con un parche de Sauvage, 22 horas después del evento. La fracción de expulsión fue del 40 por ciento antes de cirugía y del 35 por ciento al décimo día postoperatorio. Tres meses después del evento el paciente está en clase funcional I de la NYHA y fracción de expulsión del ventriculo izquierdo del 40 por ciento.

Comunicaçäo interventricular após infarto do miocárdio: análise ecocardiográfica de pacientes submetidos a pressäo expiratória final positiva / Ventricular septal defect following myocardial infarction ­ echocardiographic analysis of patients submitted to positive final expiratory pressure

Comunicaçäo interventricular (CIV) como complicaçäo do infarto agudo do miocárdio (IAM) ocorre em 0,5 a 1,0% dos pacientes e freqüentemente resulta em falência biventricular. Avaliamos os efeitos ecocardiográficos da pressäo expiratória final positiva (PEEP) sobre as dimensöes dos ventrículos direito (VD) e esquerdo (VE) em três pacientes que desenvolveram CIV pós-infarto, complicado com insuficiência respiratória aguda. Em todos os casos houve súbito aumento nas dimensöes do VD e, provavelmente através da interdependência ventricular, uma proporcional diminuiçäo nas dimensöes do VE. Concluímos que a terapia com PEEP neste grupo de pacientes näo teve efeito benéfico comprovado e provavelmente acentuou a dilataçäo ventricular direita

Interventricular septal rupture is a life-threatening complication occuring in 0,5 to 1,0% of patients following acute myocardial infarction and often results in right and left ventricular failure. This study aimed at evaluating the echocardiographic effects of PEEP on right (RV) and left (LV) ventricular dimension in three patients who developed a postinfarction septal defect and in whom acute respiratory failure was a preterminal event. The effects of PEPP on the heart remain controversial. We observed in all three patients a sudden large increase in RV dimensions and hence, probably through ventricular interdependence, a proportional decrease in LV dimensions. The progressive leftward septal displacement with increasing levels of PEEP probably contributed to reduce LV compliance. We concluded that PEEP therapy in this group of patients had no proven beneficial effects and probably contributed to further RV dilatation and failure

Role of foetal echocardiography in predicting perinatal outcome.

To establish foetal cardiovascular parameters as predictors of perinatal outcome in pregnancy, M-Mode, 2-D echocardiography and pulse Doppler study was performed at 24-32 weeks of gestation in 65 pregnancies. These pregnancies were followed up for perinatal outcome. The studied population included 24 normal pregnancies, 21 pregnant women with heart disease (14 rheumatic and 7 congenital heart disease) and 20 high risk pregnancies (bad obstetric history in 7, suspected intrauterine growth retardation in 4, hypertensive disease of pregnancy in 6 and diabetes mellitus in 3). There was no perinatal mortality. Two foetuses were born with complete heart block and one with a small ventricular septal defect; 6 neonates had intrauterine growth retardation and two of these had neonatal asphyxia with APGAR score less than 6 at one minute. Anatomically normal heart was correctly diagnosed in all 64 foetuses and ventricular septal defect was detected antenatally in one. Antenatal diagnosis of complete heart block was correctly made in two foetuses. One new born with complete heart block required a permanent pacemaker, which was implanted. The ratio of peak velocity across mitral valve during atrial systole (A) to peak velocity during early diastolic ventricular filling (E) was chosen to correlate with perinatal outcome. The ratio was less than 1.0 in 6 foetuses, all of whom were subsequently confirmed to have intrauterine growth retardation. In normal pregnancies A/E ratio was more than 1.0. We conclude that foetal echocardiography is a useful tool for predicting perinatal outcome and may be helpful in screening patients who require specific perinatal management.

Divertículo ventricular asociado a comunicación interventricular / Ventricular diverticulum associated to a ventricular communication

Se describe un paciente adulto de 48 años que tuvo divertículo ventricular variedad *B* de Gerlis, asociado a defecto septal interventricular, comprobado en el acto quirúrgico. Se justifica la comunicación, debido a la rareza de la entidad en la literatura especializada y en nuestro medio

Tratamento cirúrgico da comunicaçäo interventricular pós infarto agudo do miocárdio: conduta atual / Surgical treatment of ventricular septal defects after acute myocardial infarction: current management

Os autores descrevem sua experiência com o tratamento cirúrgico de 42 pacientes portadores de comunicaçao interventricular (CIV) pós infarto agudo do miocárdio (IAM). Destacam a elevada mortalidade cirugica nos pacientes com choque cardiogênico instalado (66,6 por cento) em relaçao aos demais (9,5 por cento). A observaçao de descompensaçoes súbitas em pacientes hemodinâmicamente estáveis tem levado à indicaçao cirúrgica precoce, se possível, assim que estabelecido o diagnóstico da rotura do septo interventricular (RSI). O comprometimento de múltiplas artérias coronárias e faixas etárias elevadas foram considerados fatores agravantes no prognóstico cirúrgico. O mesmo nao ocorreu com a relaçao fluxo pulmonar/sistêmico e shunt E-D, que nao guardaram relaçao com a mortalidade. A técnica de exposiçao de ambas as cavidades ventriculares e reforço das 2 faces do septo roto com tecido biológico tem fornecido resultados gratificantes na correçao da RSI, especialmente de localizaçao posterior.

Comunicación interventricular posinfarto agudo de miocardio / Ventricular septal defect post acute myocardial infarction

El presente tabajo se ralizó con el objeto de analizar la casuística de Comunicación Interventricular (CIV) posinfarto agudo de miocardio (IAM). Entre 1978 y 1986 se presentaron 6 casos (1,3% de los IAM), 3 varones y 3 mujeres, con edad promedio de 57,8 años: ninguno tenía IAM previo, existiendo angina de reciente comienzo en 4, mientras que los 2 restantes no tenían angor previo. Los IAM inferiores predominaron en proporción 2 a 1 sobre los anteriores y hubo compromiso del ventrículo derecho en 3. El 85% de los casos presentó insuficiencia cardíaca grave desde el comienzo, que fue fulminante en 3 pacientes. Dos fueron sometidos a cirugía, siendo ésta exitosa en 1 caso, con sobrevida de 15 meses hasta la fecha. En conclusión, la CIV es una gravísima complicación del IAM con alta mortalidad, por lo que requiere un diagnóstico precoz y firmes decisiones terapéuticas

Comunicación interventricular posterior a infarto agudo de miocardio: diagnóstico y tratamiento: concordancias y divergencias sobre el tema / Ventricular septal defect after acute myocardial infarction diagnosis and treatment: concordances and divergences on the theme

Se presentan tres casos de comunicación interventricular posinfarto agudo de miocardio con distinta evolución clínica. Se hace una revisión de la bibliografía concluyendo sobre las pautas diagnósticas y terapéuticas que conviene adoptar