ABSTRACT
Abstract Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies. Objective: We looked for a 22q11.2 deletion in Mexican patients with craniofacial dysmorphisms suggestive of DiGeorge or velocardiofacial syndromes and at least one major phenotypic feature (cardiac anomaly, immune deficiency, palatal defects or development delay). Methods: A prospective study of 39 patients recruited in 2012-2015 at the Instituto Mexicano del Seguro Social at Guadalajara, Mexico. The patients with velocardiofacial syndrome-like features or a confirmed tetralogy of Fallot (TOF) or complex cardiopathy were studied by G-banding and fluorescence in situ hybridization (FISH) with a dual TUPLE1(HIRA)/ARSA or TUPLE1(22q11)/22q13(SHANK3) probe, six patients without the 22q11.2 deletion (arbitrarily selected) were tested with the dual DiGeorge II (10p14)/D10Z1 probe. Results: Twenty-two patients (7 males and 15 females) had the 22q11.2 deletion and 17/39 did not have it; no patient had a 10p loss. Among the 22 deleted patients, 19 had congenital heart disease (mostly TOF). Twelve patients without deletion had heart defects such as TOF (4/12), isolate ventricular septal defect (2/12) or other disorders (6/12). Conclusion: In our small sample about ~56% of the patients, regardless of the clinical diagnosis, had the expected 22q11.2 deletion. We remark the importance of early cytogenetic diagnosis in order to achieve a proper integral management of the patients and their families.
Resumen Introducción: La deleción 22q11.2 ocurre con una frecuencia de 1:4,000-1:6,000 nacidos vivos, mientras que la deleción 10p13p14 es detectada en 1:200,000 recién nacidos. Ambas deleciones comparten características clínicas similares tales como defectos cardiacos congénitos y anomalías inmunológicas. Objetivo: Identificar la deleción 22q11.2 en pacientes mexicanos con dismorfismo craneofacial sugestivo de síndrome DiGeorge o velocardiofacial y por lo menos con una característica clínica mayor (anomalía cardiaca, deficiencia inmunológica, defectos en paladar o retardo en el desarrollo) Métodos: Estudio prospectivo de 39 pacientes captados entre 2012-2015 en el Instituto Mexicano del Seguro Social en Guadalajara, México. Los pacientes con características clínicas sugerentes de síndrome velocardiofacial o diagnostico confirmado de tetralogía de Fallot (TOF) o cardiopatía compleja fueron estudiados por bandas G y por hibridación in situ fluorescente (FISH) con una sonda dual TUPLE1(HIRA)/ARSA o TUPLE1(22q11)/22q13(SHANK3), seis pacientes sin la deleción 22q11.2 (seleccionados arbitrariamente) fueron estudiados con la sonda dual DiGeorge II (10p14)/D10Z1. Resultados: Veintidós pacientes (7 hombres y 15 mujeres) tuvieron la deleción 22q11.2 y 17/39 no la tuvieron, ningún paciente tuvo la pérdida de 10p. Entre los 22 pacientes delecionados, 19 tuvieron defecto cardiaco congénito (principalmente TOF). Doce pacientes sin la deleción tuvieron defectos cardiacos congénitos como TOF (4/12), defecto del septo ventricular aislado (2/12) y otros trastornos cardiacos (6/12). Conclusión: En nuestra pequeña muestra, alrededor de ~56% de los pacientes, independientemente de su diagnostico clínico, tuvieron la deleción 22q11.2 esperada. Resaltamos la importancia del diagnóstico citogenético temprano para determinar un apropiado manejo integral para el paciente y sus familiares.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Young Adult , Tetralogy of Fallot/diagnosis , In Situ Hybridization, Fluorescence , DiGeorge Syndrome/diagnosis , Heart Defects, Congenital/diagnosis , Tetralogy of Fallot/genetics , Prospective Studies , Cytogenetic Analysis , DiGeorge Syndrome/physiopathology , DiGeorge Syndrome/genetics , Heart Defects, Congenital/genetics , Heart Septal Defects, Ventricular/diagnosis , Heart Septal Defects, Ventricular/genetics , MexicoABSTRACT
Octogenária em investigação de dor torácica atípica, após ecocardiograma transtorácico normal, foi submetida à angiotomografia do coração. O exame demonstrou ausência de lesões coronarianas obstrutivas, entretanto, foi diagnosticado múltiplas criptas profundas na parte muscular do septo interventricular, algumas das quais comunicavam os dois ventrículos. Realizada ressonância cardíaca que identificou algumas criptas, mas não foi capaz de identificar comunicação interventricular. O Qp/Qs foi 0,98, indicando ausência de shunt detectável. Este caso demonstra que a alta resolução espacial da angiotomografia cardíaca aliada à aquisição volumétrica tridimensional permite identificar pequenas alterações anatômicas do coração.
A female patient (80 years old) with atypical chest pain and a normal echocardiogram underwent cardiac computed tomography angiography. No obstructive coronary arterial disease was found. However, multiple deep crypts were detected on the muscular portion of the ventricular septum, some running between the ventricles. Cardiac Magnetic Resonance was then performed and, despite detecting some of the crypts, it was unable do identify any interventricular connection. The Qp/Qs was 0.98, indicating the absence of detectable shunts. This case report shows that the high spatial resolution of the cardiac computed tomography angiography, together with volumetric tridimensional acquisition can detect minor anatomical alterations to the heart.
Subject(s)
Humans , Female , Aged, 80 and over , Heart Septal Defects, Ventricular/diagnosis , Heart , Multidetector Computed Tomography/methods , Heart Septal Defects/diagnosis , Heart Ventricles/abnormalitiesABSTRACT
BACKGROUND/AIMS: This study evaluated the clinical features of double-chambered right ventricle (DCRV) in adults. Most cases of DCRV are diagnosed and treated during childhood. Consequently, very few reports include cases in which its clinical characteristics are evident in adults. METHODS: We reviewed the clinical data for 10 adult patients (age > or = 18 years) with DCRV. RESULTS: Electrocardiogram showed right ventricular hypertrophy in 3 DCRV patients. All cases were associated with ventricular septal defect (VSD; 7 for perimembranous, 2 for muscular outlet, and 1 for the subarterial type). Surgical correction was done for 7 DCRV patients all of whom survived operations. Their follow-up echocardiogram showed the pressure gradient in their right ventricle was significantly decreased from 69.4 +/- 17.2 mmHg preoperatively to 10.2 +/- 5.0 mmHg postoperatively (p < 0.05). In the short-term follow-up, there was no significant increase in the pressure gradient in the right ventricle. CONCLUSIONS: There are lots of cases of DCRV that are not diagnosed accurately in adults. In our experience, all DCRV cases had VSD and surgical correction of these cases showed excellent results. Therefore, accurate diagnosis of DCRV is necessary so that DCRV is not overlooked and operations are enabled within an appropriate time.
Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Age Factors , Echocardiography, Doppler , Electrocardiography , Follow-Up Studies , Cardiac Catheterization , Heart Septal Defects, Ventricular/diagnosis , Heart Ventricles , Hypertrophy, Right Ventricular/diagnosis , Ventricular Dysfunction, Right/diagnosisABSTRACT
Não existe um consenso definitivo sobre o tratamento cirúrgico de pequenos defeitos do septo ventricular com apresentação clínica assintomática. Embora estes defeitos congênitos apresentem evolução benigna, com fechamento espontâneo, em alguns casos podem ser observadas grandes complicações decorrentes do próprio mecanismo de fechamento ou do aparecimento de novas lesões na evolução da doença.
Subject(s)
Humans , Male , Female , Infant, Newborn , Heart Defects, Congenital/complications , Heart Septal Defects, Ventricular/complications , Heart Septal Defects, Ventricular/diagnosis , EchocardiographyABSTRACT
A interrupção do arco aórtico é uma cardiopatia rara, com alta morbidade e mortalidade quando o manejo é retardado. Este artigo apresenta um caso com evolução atípica, em paciente de 19 anos. A história e o exame clínico eram compatíveis com insuficiência cardíaca recente, associados a episódios de síncope e diminuição de pulsos em membros inferiores. O eletrocardiograma mostrava sobrecarga biventricular e biatrial. O ecocardiograma mostrou disfunção severa dos ventrículos e alteração de fluxo em aorta descendente. Na angiotomografia, visualizou-se oclusão da aorta torácica após a artéria subclávia esquerda. O diagnóstico instituído foi de interrupção de aorta, sendo indicado tratamento cirúrgico.
The interrupted aortic arch (IAA) is a rare cardiopathy, with high morbimortality when treatment is delayed. This study is a case of IAA with atypical clinical behavior in a 19-year-old patient. The history and the clinical assessment were compatible with recent heart failure, associated to syncope episodes and reduction of pulses in the lower limbs. The electrocardiogram showed biventricular and biatrial overload. The echocardiogram showed severe ventricular dysfunction and altered blood flow in the descending aorta. The angiotomography disclosed occlusion of the thoracic aorta after the left subclavian artery. The attained diagnosis was interrupted aortic arch and surgical treatment was indicated.
Subject(s)
Humans , Male , Young Adult , Aorta, Thoracic/abnormalities , Heart Failure/diagnosis , Heart Septal Defects, Ventricular/diagnosis , Diagnosis, Differential , Echocardiography , Heart Failure/etiology , Heart Septal Defects, Ventricular/complications , Subclavian Artery/abnormalities , Young AdultABSTRACT
BACKGROUND: Preoperative evaluation of patients with pulmonary atresia and ventricular septal defect (PA/ VSD) are generally done by echocardiogram and cardiac catheterization. The authors' objective of the present study was to compare the findings of Gadolinium (Gd) enhanced cardiac magnetic resonance angiography (MRA) with cardiac catheterization. MATERIAL AND METHOD: Patients who had PA/VSD were prospectively evaluated using cardiac catheterization and cardiac MRA. A branch of the pulmonary arteries was divided into: main pulmonary artery (MPA), left and right branch pulmonary artery (LPA & RPA), major aortopulmonary collateral arteries (MAPCA) and minor collaterals. Each study was interpreted blindly. The agreement of findings was compared using Kappa statistics. RESULTS: There were 43 patients who received both cardiac catheterization and cardiac MRI within a 2 month period The average age was 13.8 +/- 8.4 (2-30) years-old. There was an agreement among measurement of both MPA and LPA & RPA with Kappa statistics of more than 0.8. Gd-enhanced MRA was able to identify more branches of MAPCA when compared to cardiac catheterization. CONCLUSIONS: The results of the present study indicate that Gd-enhanced MRA is a feasible, fast and accurate technique for identification of all sources of pulmonary blood supply in patients with complex pulmonary atresia. The present study was a noninvasive alternative to cardiac catheterization. Gd-enhanced MRA can better delineate small (minor) branches of collateral.
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Collateral Circulation , Feasibility Studies , Female , Gadolinium , Heart Septal Defects, Ventricular/diagnosis , Humans , Magnetic Resonance Angiography/instrumentation , Magnetic Resonance Imaging , Male , Preoperative Care , Prospective Studies , Pulmonary Atresia/diagnosis , Tetralogy of Fallot/diagnosisABSTRACT
Ventricular septal defect represents an uncommon sequel of penetrating cardiac trauma. A high index of suspicion, follow-up, and a complete evaluation of the patient who survives a penetrating heart injury is required. We report an unusual case of posttraumatic ventricular septal defect in a patient who had a stab injury to the chest requiring emergency operation. After the first surgery, the patient presented with dyspnea and signs of heart failure. Intraoperative assessment revealed ventricular septal defect