Critical pulmonary stenosis in two successive siblings (original) (raw)

Familial pulmonary valve stenosis, atrial septal defect, and unique electrocardiogram abnormalities

Journal of Medical Genetics, 1985

The familial association of pulmonary stenosis, atrial septal defect, and unique electrocardiographic abnormalities involving a mother and two children is reported. Familial pulmonary stenosis not occurring as part of a named syndrome or without associated multiple congenital abnormalities is rare. The constellation of pulmonary stenosis, atrial septal defect, and the particular electrocardiogram abnormalities present here is to our knowledge previously unreported. The pattern of inheritance is consistent with an autosomal dominant mode of transmission.

Pulmonary hypertension associated with congenital heart disease

2020

The spectrum of pulmonary hypertension associated with congenital heart disease (PH-CHD) is broad and complex. The most common aetiologies are related to left-to-right shunts, resulting in volume loading of the pulmonary circulation (precapillary pulmonary hypertension) and left-sided obstructive disease (post-capillary pulmonary hypertension). However, in addition to these basic classifications are patients with absent pulmonary arteries, large septal defects, duct-dependent lesions, cardiomyopathies, and, perhaps the most challenging, patients with single ventricle physiology lacking a subpulmonic ventricle. It is therefore imperative that physicians taking care of children with PH-CHD are well versed not only in the different physiologies present in these children, but also in those that result from their respective surgical palliations as well and how these flows and pressures relate to their pulmonary vascular disease burden. This chapter presents the case of a child with triso...

Double Discordance with Pulmonary Stenosis: About a Clinical Case

World Journal of Cardiovascular Diseases, 2020

Introduction: Double discordance or corrected transposition of the great vessels is a rare congenital heart disease. It is an atrioventricular and ventriculo-arterial mismatch. It is a complex and unusual form of congenital heart disease. Often asymptomatic, in its isolated form, bradycardia, murmur and cyanosis can be a mode of revelation. Case presentation: We report the case of an 11-year-old child, asymptomatic at birth, after he started to have dyspnea on exertion, recurrent bronchitis, motivating a cardiological consultation. On cardiac physical examination, the heart sounds regular, not rapid at 81 BPM with a grade 3-4/6 systolic murmur at the 4th left EIC (Intercostal space). EKG (electrocardiogram) shows PR interval at 0.20 seconds. Cardiac ultrasound reveals atrioventricular discordance, vascular malposition, anterior aorta, the two vessels placed side by side, minimal pulmonary insufficiency, a small leak at the levels of the mitral and tricuspid valves, dystrophic pulmonary valves with an average gradient of 91 mmHg, max at 158 mmHg. Regular follow-up has been recommended through the performance of a clinical examination and cardiac ultrasound. Conclusion: The double discordance can be asymptomatic, and survival can be long in the isolated forms, but the evolution is not always benign, especially in the associated forms. It depends on the function of the systemic right ventricle and associated abnormalities.

Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve

K E Y W O R D S: absent pulmonary valve syndrome; nuchal translucency; outcome; prenatal diagnosis ABSTRACT Objectives To analyze fetal echocardiographic findings of absent pulmonary valve syndrome (APVS), its association with chromosomal and extracardiac anomalies including nuchal translucency (NT) and the outcome after diagnosis. Methods Data of 14 fetuses with confirmed APVS retrospectively collected in two tertiary referral centers between 1998 and 2004 were analyzed. The variables examined were: reason for referral, gestational age at diagnosis and associated abnormalities, including first trimester NT thickness. Cardiac evaluation included measurement of cardiothoracic ratio, diameter of pulmonary arteries and Doppler flow in the pulmonary trunk. Information was retrieved from clinical files, recorded videotapes and stored images. Karyotyping including examination for the 22q11 deletion was performed in all cases. Results Mean gestational age at diagnosis was 28 weeks, with 5/14 (36%) diagnosed before 22 weeks. In 13/14 (93%) there was an associated ventricular septal defect (subaortic in 12 fetuses and inlet-type in one) and all 13 had tetralogy of Fallot. Enlargement of the central pulmonary arteries and cardiomegaly were present in all cases diagnosed after 22 weeks. Of the five fetuses in which APVS was detected before 22 weeks, four (80%) had a normal pulmonary trunk diameter, two (40%) had normal pulmonary branches and three (60%) had normal cardiac size. The arterial duct was absent in 11/14 (79%). A correlation between presence of the arterial duct and the size of the central pulmonary arteries or cardiomegaly could not be established. Increased NT was observed in 4/10 cases (40%) for which this information was available. 22q11 microdeletion was diagnosed in three fetuses (21%). There were five terminations of pregnancy, one intrauterine death, five neonatal deaths and one infant death. Of the six neonates with respiratory distress, only one (17%) survived and of the eight babies in whom there was an intention to treat, two survived (25%).

Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus

Ultrasound in Obstetrics and Gynecology, 2004

K E Y W O R D S: 22q11 microdeletion; absent pulmonary valve syndrome; fetal/neonatal outcome ABSTRACT Objectives To assess in a population of 21 fetuses diagnosed with absent pulmonary valve syndrome (APVS) the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies and the perinatal outcome. Methods This was a retrospective observational study of 21 fetuses with a confirmed diagnosis of APVS. All of them underwent fetal echocardiography and a detailed anatomical scan. Karyotyping was performed in 20/21 cases, with fluorescent in-situ hybridization analysis to detect the 22q11 microdeletion performed in 16/21 cases. The following variables were retrieved from databases and evaluated: indication for referral, gestational age at diagnosis, presence of cardiomegaly, branch pulmonary dilatation, associated anomalies or intrauterine growth restriction, and fetal/neonatal outcome. Autopsy reports and postnatal surgical/medical files were available for confirmation in all cases. Results Prenatal diagnosis of APVS proved correct in all cases, with only three cases occurring not in association with tetralogy of Fallot. Additional cardiovascular anomalies were present in five cases (24%). Extracardiac anomalies were found in nine cases (42.8%), and were associated with chromosomal anomalies in five cases (24%). The 22q11 microdeletion was present in 4/16 cases (25%). Fetal/neonatal outcome was as follows: nine terminations of pregnancy, three intrauterine deaths, six postnatal deaths. The remaining three (14.3%) neonates were alive after surgery. Cardiomegaly and marked branch pulmonary dilatation were present in 16 and 15 cases, respectively, and were associated with bronchomalacia in virtually all cases.