Gemma Giralt

Embarazo y cardiopatías congénitas

Introduccion y objetivos Desde la creacion de las Unidades de Cardiopatias Congenitas (CC) del Adulto y las Unidades Obstetricas de Alto Riesgo Cardiologico, ha habido creciente interes por la evolucion hemodinamica y obstetrica de embarazadas con CC. Metodos Estudio descriptivo retrospectivo de 56 mujeres con CC y media de edad de 25 (18-40) anos, que iniciaron 84 gestaciones entre enero de 1992 y agosto de 2006. Se las distribuyo en 3 grupos de riesgo gestacional: A, bajo; B, moderado y C, alto. Resultados Las incidencias de complicaciones durante la gestacion fueron del 1,6, el 15 y el 20%, y durante el puerperio, el 2, el 23 y el 50%; la mortalidad materna fue 0, del 7,6 y del 25% de los grupos A, B y C respectivamente. Nacieron 69 ninos y las tasas de prematuridad fueron del 11, el 15 y el 100% respectivamente. Los factores de riesgo principales fueron: la hipertension pulmonar (HTP), la cianosis, la arritmia, la obstruccion del tracto de salida del ventriculo izquierdo, el ventriculo derecho (VD) dilatado, el VD sistemico necesidad de y la anticoagulacion. La HTP fue el factor mas importante asociado a morbimortalidad maternofetal. Conclusiones La estratificacion por riesgo en las gestantes con CC ofrece informacion pronostica que permite adecuar la atencion de equipos multidisciplinarios para conseguir resultados exitosos.

Pregnancy and Congenital Heart Disease

INTRODUCTION AND OBJECTIVES Since the creation of the Adult Congenital Heart Disease Units and of the High Obstetric Risk Units, there has been increasing interest in hemodynamic and obstetric outcomes in pregnant woman with congenital heart disease. METHODS Retrospective descriptive study of 56 women with congenital heart disease aged (mean [range]) 25 (18-40) years, who experienced a total of 84 pregnancies between January 1992 and August 2006. The women were divided into three pregnancy risk groups: A, low-risk; B, moderate-risk, and C, high-risk. RESULTS The incidence of complications during pregnancy was 1.6%, 15%, and 20% in groups A, B, and C, respectively; the incidence during the puerperium was 2%, 23%, and 50%, respectively; and maternal mortality was 0%, 7.6%, and 25%, respectively. Overall, 69 children were born, and the prematurity rates in the three groups were 11%, 15%, and 100%, respectively. The following risk factors were studied: pulmonary hypertension, cyanosis, arrhythmia, left ventricular outflow tract obstruction, right ventricular dilatation, systemic right ventricle, and anticoagulation therapy. The risk factor most significantly associated with maternal or fetal morbidity or mortality was found to be pulmonary hypertension. CONCLUSIONS Risk stratification in pregnant women with congenital heart disease provides prognostic information that can help multidisciplinary teams to target care to achieve the best results.

Acute Myocardial Infarction in a Neonate Caused by a Coronary Thrombosis: a Considerable Diagnostic and Therapeutic Challenge.

de antihipertensivos en España (1995-2001). Rev Esp Cardiol. 2004;57:241–9. 5. Agencia Española de Medicamentos y Productos Sanitarios. Metodologı́a utilizada (updated July 2009). Available at: http://www.aemps.gob.es/ medicamentosUsoHumano/observatorio/metodologia.htm 6. The Organisation for Economic Co-operation and Development (OECD). Health at a Glance 2013: OECD Indicators. Available at: http://www.oecd.org/els/ health-systems/Health-at-a-Glance-2013.pdf

Persistent Left Superior Vena Cava With Absent Right Superior Vena Cava

Persistent left superior vena cava is the most common variant of systemic venous drainage, with an incidence of 0.3% to 0.5% in the general population and of 3% to 10% in patients with congenital heart disease. This anomaly arises when obliteration of the left anterior cardinal vein, which drains into the right atrium via the coronary sinus, fails to occur. Dilation of the coronary sinus constitutes the main echocardiographic sign leading to suspicion of its presence. It is usually an incidental finding and, in recent years, is frequently diagnosed during the prenatal period. It is generally an isolated entity, but there have been reports of a higher incidence of associated cardiac and extracardiac anomalies, while its presence is related to the development of obstructive lesions of the left heart. Persistent left superior vena cava in the absence of right superior vena cava (Figure A) is a less common anomaly and is caused by the obliteration, during embryogenesis, of the right anterior cardinal vein with persistence of the left anterior cardinal vein. Its incidence is 0.09% to 0.13% among patients with congenital heart defects, and only isolated cases have been reported in the literature. The largest series consists of 9 cases and a review of the literature. This anomaly is associated with congenital heart defects in 46% of the patients and with rhythm disorders in 36%. In a review of our database from March 1995 to July 2015, we found 150 pediatric patients (aged 0-18 years) with persistent left superior vena cava; of these, the right vena cava was absent in 12 (8%). The characteristics of these patients are shown in the Table. There were 7 boys and 5 girls. The diagnosis was made during a prenatal study in 6 patients (50%), during a postnatal study in the context of an associated heart defect in 4 (33.3%), and during an echocardiographic study for another purpose (innocent murmur and examination of a newborn in whom sepsis was suspected) in 2 (16.6%). In our series, 7 patients (58%) had an associated heart defect: atrial septal defect in 4 (57%), tetralogy of Fallot in 2 (28.5%), and coarctation of the aorta in 1 (14.2%). The remaining 5 (42%) had structurally normal hearts. In addition, 2 patients (1 with no heart defect and the other with an atrial septal defect) had severe pulmonary hypertension of the newborn. The 6 patients with a prenatal diagnosis included 4 (66.6%) with smaller-than-expected left heart chambers and aortic arch; of these, 3 had no associated heart defect and they showed a progressive normalization after birth, and the fourth had tetralogy of Fallot. With regard to rhythm disorders, 4 patients (33.3%) had ectopic atrial rhythm, and no episodes of ventricular or supraventricular tachycardia were observed. Extracardiac malformations were found in 6 patients (50%) as follows: multiple malformation syndrome in 4 (33.3%) (Table), hypoacusis and psychomotor retardation of unknown origin in 1 (8%), and Down syndrome in 1 (8%). The remaining 6 (50%) had normal phenotypes and karyotypes. The 4 (33%) patients who died during follow-up had a multiple malformation syndrome. Two died after a pulmonary hypertensive crisis, 1 of them had an atrial septal defect and died prior to surgery, and the other had a structurally normal heart. The other 2 nonsurvivors had tetralogy of Fallot; 1 died after corrective surgery and the other after reintervention for severe pulmonary insufficiency. The 8 survivors (66.6%) remain asymptomatic. In the 4 patients with atrial septal defects, there was marked dilation of the right heart chambers, and 2 of them required corrective surgery at an earlier than usual age (8 months and 2 years). The patients with tetralogy of Fallot underwent intervention with the customary timing (before the age of 6 months). This report involves the largest series of patients with persistent left superior vena cava in the absence of right superior vena cava of all those published to date. In conclusion, this is a very uncommon anomaly, for which intrauterine diagnosis is possible; its frequent association with cardiac and extracardiac malformations, as well as with multiple malformation syndromes, necessitates a complete study in the fetus, including genetic analysis. The severe dilation of the coronary sinus (as shown in Figure B) and the resulting distortion of the mitral annulus could have an intrauterine effect on left ventricular filling, which would explain its frequent association with small left heart chambers and with other leftsided obstructive lesions. In patients with atrial septal defect, the compression of the mitral annulus could favor a greater left-toright shunt through the defect, which would explain the marked dilation of the right heart chambers and the need for early surgical correction. In our series, the patients with no other anomalies had an asymptomatic course, with postnatal normalization of the size of the left heart chambers. Thus, we consider that the high

Reversal of Hyperoxaluric Cardiomyopathy With Severe Cardiac Dysfunction After Combined Liver and Kidney Transplantation

Primary hyperoxaluria (PH) is an infrequent condition, with autosomal recessive inheritance, and consisting of abnormal oxalate metabolism with calcium depositions in the kidneys that lead to a decline in glomerular filtration rate (GFR) and progressive renal insufficiency (RI). This metabolic defect takes different forms. Type PH (PH1) is produced by an enzyme abnormality in the liver and is frequently accompanied by heart disorders caused by oxalate depositions in the cardiac tissue. Dilated cardiomyopathy has been described, with various degrees of ventricular dysfunction, stroke—due to embolization of myocardial depositions—and conduction-specific tissue abnormalities, which appear as conduction abnormalities and potentially fatal arrhythmias. Treatment of PH1 is by liver transplantation to recover the deficient enzyme activity. A 3-year-old girl (weight, 10.4 kg) of Pakistani origin, admitted for an RI study (urea, 543 mg/dL; creatinine, 11.6 mg/dL; GFR, 14.3%), was diagnosed with PH (plasma oxalate, 12.6 mg/L; urinary oxalic acid, 540.4 mmol/mol). The genetic study detected homozygosis due to a previously undescribed mutation consisting of a change in codon 164 from glutamine to arginine (p.Q164R), which codifies a nonfunctioning protein demonstrated in vitro. These findings are diagnostic of PH1. Clinically, our patient had episodes of acute lung edema related to intravenous fluid administration. Echocardiography revealed left ventricular dilatation (z-score, +4) with severe ventricular dysfunction (left ventricular ejection fraction [LVEF], 23%) (Fig. 1). Suspected dilated cardiomyopathy secondary to PH1 led to a myocardial biopsy, which showed the presence of crystals with radial striations, visible in polarized light, associated with heart disease caused by PH (Fig. 2). Given the high surgical risk of combined liver and kidney transplantation in the presence of severe ventricular dysfunction, a myocardial reserve study was performed using dobutamine stress echocardiography and following the American Heart Association protocol. This showed improved left ventricular function up to 55%-60% LVEF with dobutamine at 30 mg/kg/min but the test had to be interrupted due to a hypertensive crisis with transient neurologic symptoms. On the basis of these results and the current literature, the patient was listed for combined liver and kidney transplantation, which took place 1 month later. In the immediate postoperative period, left ventricular dilatation persisted with dysfunction (25%-30% LVEF) but subsequent follow-up showed increased myocardial thickness and progressive LVEF recovery; at 6 and 18 months post-transplantation LVEF was 68% and 71.6% respectively, with ventricular diameters normal for the patient’s age (Fig. 1). PH1 is caused by a chromosome 2 abnormality, associated with q36-37, leading to absent, decreased or dysfunctional glycolate aminotransferase enzyme hepatic activity. This abnormality leads