M.C. Vaillant

Barth syndrome in a female patient

BACKGROUND Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin. Loss of cardiolipin in the inner mitochondrial membrane results in respiratory chain dysfunction. No specific symptom has been identified in female carriers. CASE REPORT We report the first case of BTHS confirmed by TAZ gene analysis in a female patient. This girl experienced severe heart failure at 1-month of age. Echocardiography diagnosed dilated-hypokinetic and hypertrophic cardiomyopathy with noncompaction of the left ventricle. Initial metabolic screening was normal, except for a cyclic neutropenia. Respiratory chain analysis performed on skin fibroblasts revealed a decreased activity of complexes I, III and IV. Screening on a bloodspot showed abnormal monolysocardiolipin:cardiolipin ratio, later confirmed on cultured fibroblasts, indicative of BTHS. Genetic analyses finally confirmed the diagnosis of BTHS, by showing a large intragenic deletion of exons 1 through 5 in the TAZ gene. Cytogenetic analysis showed mosaicism for monosomy X and for a ring X chromosome with a large deletion of the long arm including the Xq28 region. The girl presented recurrent episodes of severe acute heart failure, progressive muscle weakness, and had a fatal septic shock at 3 years. CONCLUSION This case highlights that the diagnosis of BTHS should also be suspected in female patients presenting a phenotype similar to affected boys. In these cases, analysis of the monolysocardiolipin:cardiolipin ratio in bloodspots is a rapid and sensitive screening tool for BTHS. However clinical expression in a carrier female requires hemizygosity for the mutated allele of the TAZ gene, which supposes a rearrangement of the TAZ gene region on the other X chromosome.

Évolution du diagnostic anténatal des cardiopathies congénitales entre 1991 et 2005 dans une population limitée au département d'Indre-et-Loire

UNLABELLED The value of prenatal diagnosis of major congenital heart diseases (CHDs) has already been proved. In this study, we observed the evolution of the detection rate of CHDs and the quality of the diagnoses over a 15-year period in the Indre-et-Loire department of France. METHOD Retrospective analysis of the quantitative and qualitative data of prenatal diagnosis between 2000 and 2005 (period 3) and comparison with studies conducted from 1991 to 1994 (period 1) and from 1995 to 1999 (period 2). The CHDs considered to be detectable are the major CHDs with neonatal symptoms. In order to analyze the quality of prenatal diagnosis, each diagnosis was classified as correct, false, or incomplete during period 3. RESULTS Period 3: 65.7% detectable CHDs were screened. Using period 1 criteria for prenatal diagnosis, the percentage of CHDs detected for periods 1, 2, and 3 was 43.2, 66.7, and 78%, respectively. Between periods 2 and 3, the detection rate increased from 52 to 74% for CHDs diagnosed with the visualization of the outflow tract. It increased from 63 to 71% for CHDs diagnosed with a four-chamber view. During period 3, diagnoses made by a pediatric cardiologist were correct and complete in 80% of cases. It was less than 25% otherwise. CONCLUSION The improvement of prenatal diagnosis over time results from technological progress, the greater experience of ultrasonographers, and the systematic visualization of the outflow tract in addition to the four-chamber view. Despite the improvement in prenatal diagnosis, one-third of major CHDs were not screened before birth. Pediatricians still need to diagnose CHDs after birth.

Auscultation While Standing: A Basic and Reliable Method to Rule Out a Pathologic Heart Murmur in Children

PURPOSE The distinction between physiologic (innocent) and pathologic (organic) heart murmurs is not always easy in routine practice, leading too often to unnecessary cardiology referrals and expensive investigations. We aimed to test the hypothesis that the complete disappearance of murmur on standing can exclude cardiac disease in children. METHODS From January 2014 to January 2015, we prospectively included 194 consecutive children aged 2 to 18 years who were referred for heart murmur evaluation to pediatric cardiologists at 2 French medical centers. Heart murmur characteristics while supine and then while standing were recorded, and an echo-cardiogram was performed. RESULTS Overall, 30 (15%) of the 194 children had a pathologic heart murmur as determined by an abnormal echocardiogram. Among the 100 children (51%) who had a murmur that was present while they were supine but completely disappeared when they stood up, only 2 had a pathologic murmur, and just 1 of them needed further evaluation. Complete disappearance of the heart murmur on standing therefore excluded a pathologic murmur with a high positive predictive value of 98% and specificity of 93%, albeit with a lower sensitivity of 60%. CONCLUSIONS Disappearance of a heart murmur on standing is a reliable clinical tool for ruling out pathologic heart murmurs in children aged 2 years and older. This basic clinical assessment would avoid many unnecessary referrals to cardiologists.

Souffle cardiaque chez l’enfant asymptomatique : quand demander un avis cardiologique ?

Heart murmurs are common in children and adolescents. Although most are innocent, an isolated heart murmur in asymptomatic children may be the sole finding indicating serious heart disease. Historical elements of familial heart disease, cardiovascular symptoms and a well-conducted medical examination can identify children with an increased risk of heart disease. The distinction between an innocent heart murmur and a pathologic heart murmur is not always easy for primary care physicians because most of them have little experience with auscultation searching for congenital heart malformation. Echocardiography provides a definitive diagnosis of heart disease but is not required in case of innocent murmur. Inappropriate pediatric cardiologist and echocardiographic referral leads to useless and expensive examinations, resulting in a work overload for pediatric cardiologists. The objective of this review is to provide the keys to differentiate innocent and pathologic murmurs, and to help physicians decide on the optimal diagnostic strategy.

P384 - Extrasystoles ventriculaires idiopathiques de l’enfant : devenir à moyen terme

Objectifs Evaluer le devenir des ESV idiopathiques de l’enfant. Patients et Methodes Enfants avec ESV vus entre 1984 et 2004. Parametres etudies: sexe, âge, symptomes, ESV par 24h: nombre, type ECG et gravite selon la classification de Lown (classes de 1 a 5). Protocole d’etude prospectif: consultation cardiologique, ECG, Holter. Deux groupes evolutifs constitues: A (absence d’ESV) et B (ESV persistantes). Resultats Parmi les 74 pts recenses, 31 (10 adultes) ont participe. Les pts non revus etaient plus âges ( p = 0,021) et avaient plus d’ESV monomorphes ( p = 0,032). Le recul median etait de 6,7 ans (4-19,5). Groupe A : 17 pts, Groupe B: 14 pts dont 11 avec ESV de classe 1 ou 2, et 3 avec ESV de classe 3 ou 4. Le sex-ratio etait plus eleve dans le groupe A ( p = 0,045). Les autres facteurs n’avaient pas d’influence sur l’evolution des ESV. Dans le groupe B, les symptomes etaient plus frequents ( p = 0,032), le nombre d’ESV par 24 h etait 10 000 chez 2 pts. Par rapport aux donnees initiales, la classe de gravite etait plus faible ( n = 5), identique ( n = 7) ou augmentee ( n = 2). Conclusions La persistance chez quelques pts d’ESV nombreuses, source potentielle de dysfonction ventriculaire, justifie la surveillance des ESV idiopathiques.

Exploration d’un souffle cardiaque chez l’enfant : apport de l’examen clinique et de l’ECG

* Auteur correspondant. e-mail : chantepie@med.univ-tours.fr La découverte d’un souffl e cardiaque chez l’enfant est une situation fréquente en pratique clinique. La stratégie diagnostique doit être effi cace pour le dépistage des cardiopathies, avoir le meilleur rapport qualité/coût et apaiser l’anxiété des parents, de l’enfant et du médecin. Compte tenu de la prévalence respective, selon l’âge, des souffl es organiques (liés à des cardiopathies congénitales) et des souffl es fonctionnels, il convient de différencier 2 situations en fonction de l’âge.