Transposition of the great arteries: factors influencing prenatal diagnosis.

OBJECTIVE: The objective of this study is to highlight the factors that may affect prenatal diagnosis of transposition of the great arteries (TGA) in order to improve it. METHODS: This is a retrospective study performed between 2004 and 2009 in the maternity units from North of France. We identified a total of 68 cases of TGA (isolated or associated with only VSD or coarctation of aorta), of which 32 (47.1%) had prenatal diagnosis (PND+) and 36 did not (PND-). Maternal characteristics and ultrasound factors were studied in relation to PND. RESULTS: Maternal weight and body mass index were significantly higher in the PND- group (70.4 kg and 26.5 kg/m(2) vs 63.6 kg and 23.6 kg/m(2) , respectively). Maternal obesity (body mass index >30) was significantly more frequent in the PND- group (27.8% vs 12.5%). More than a quarter of TGA (28.1%) were diagnosed during the third trimester. CONCLUSION: Obesity is the main cause of missed PND of TGA. Obese patients with suboptimal prenatal scans may benefit from reassessment of fetal cardiac anatomy and/or from referral for fetal echocardiography.

[Abnormal origin of the left coronary artery from the pulmonary artery: a retrospective study of 36 cases]. / Anomalie de naissance de la coronaire gauche à partir de l'artère pulmonaire: étude rétrospective de 36 patients.

The aim of this study was to show the evolution of diagnostic techniques revealing an abnormal origin of the left coronary artery and present the follow-up results of patients operated for this malformation at different ages. This retrospective study includes 36 children or adults, with a mean age at the moment of of 28 months old, ranging from 7 days to 39 years. In 9% of cases, patients were asymptomatic. Before 1990, 81% of children had a cardiac catheterization, versus 25% after. Indeed, echocardiography with color Doppler enabled the diagnosis of abnormal origin of the left coronary artery in 70% of cases. The pre-operative mortality is at 21% (12.5% after 1990). Twenty-three patients had surgery: left coronary artery reimplantation (n=16), bypass (n=5), at mean of 44 months old for the entire series, but 21 months old after 1990. The follow-up was clinical, ECG and radiographic and echocardiographic after 1975; when possible an exercise test, cardiac nuclear imaging and more recently coronary CT scan and MRI have been performed. In conclusion, children are operated earlier and the follow-up should focus on the detection of occlusion of the re-implanted left coronary artery by echocardiography, with or without stress, exercise test, cardiac nuclear imaging, MRI and sometimes, coronary angiography.

[Percutaneous angioplasty of native coarctation of the aorta. Results in children and young adults]. / Angioplastie percutanée de la coarctation native de l'aorte. Expérience d'un centre chez l'enfant et l'adulte jeune.

The authors report the experience of one centre in the treatment of native coarctation of the aorta by percutaneous angioplasty. Between 1999 and August 2005, 22 patients (7 girls, 15 boys) underwent dilatation of their coarctation by a balloon catheter at an average age of 11.8 +/- 5 years and body weight of 44 +/- 21 kg. In 20 patients, balloon angioplasty alone was performed and, in the other two, the angioplasty was associated with the insertion of a covered CP stent. The dilatation was performed with a balloon/coarctation ratio of 2.18 +/- 0.6 (1.7 to 3.5) and a balloon/isthmus ratio of 1.0 +/- 0.23 (0.7 to 1.87). After the procedure, ascending aortic pressure decreased from 134.7 +/- 23.4 mmHg to 125 +/- 22.7 mmHg (p= 0.0003); descending aortic pressure increased from 93.4 +/- 14.9 mmHg to 104.8 +/- 21.7 mmHg (p= 0.003); transisthmic pressure gradient decreased from 41.7 +/- 14.1 mmHg to 19.8 +/- 9.5 mmHg (p< 0.0001) and the diameter of the coarctation increased from 5.9 +/- 2.6 mm to 9.3 +/- 2.6mm (p= 0.0015). The two patients treated by covered CP stents had excellent immediate results without significant residual gradients. After dilatation (sometimes repeated, N= 13), a gradient > 20 mmHg persisted in ten patients (36% of cases) but no predictive factor was found on statistical analysis. There were no cases of acute aneurysm. In one patient, the femoral pulse decreased but returned to normal with heparin therapy. No patient required emergency surgical treatment after the angioplasty. During the clinical follow-up, echocardiography and MRI showed no signs of aneurysm and one patient had mild irregularity of the isthmic region. Three patients underwent surgery by resection suture for persistent coarctation (one combined with a Ross procedure); another patient was treated by a CP stent. In conclusion, percutaneous angioplasty of native coarctation of the aorta gives satisfactory results with few complications in bigger children and young adults. The results can be improved by using a slightly higher balloon/coarctation ratio.

[The effect of an endothelin receptor antagonist in Eisenmenger syndrome: a single-center experience of 11 patients]. / Effet d'un antagoniste des récepteurs de l'endothéline dans le syndrome d'Eisenmenger: expérience d'un centre à propos de 11 patients.

The Eisenmenger syndrome is a complication of congenital heart disease with significant left-to-right shunts, such as large ventricular septal defects, and corresponds to fixed pulmonary hypertension with shunt reversal. Bosentan, an inhibitor of endothelin A and B receptors, is a new molecule previously validated in the treatment of primary pulmonary hypertension. The authors report their monocentric experience of bosentan in 11 consecutive patients with the Eisenmenger syndrome treated for at least one year. This retrospective study comprised 7 females and 4 males with an average age of 34 years (range 17 to 51 years). The underlying lesion was ventricular septal defect (n = 4), atrial septal defect (n = 3), pulmonary atresia with septal defect (n = 4 of which 2 were treated palliatively). Before treatment, the patients were classified according to the NHYA functional class (I, II, IIIa and IIIb, IV or, respectively from 1 to 5) with a distribution in this series between Classes IIIa and IV (average 3.81 +/- 0.75) and from 3 to 10 on Borg's dyspnoea scale (average 6.54 +/- 2.29). The ambient oxygen saturation (SaO2) at rest was, on average 77 +/- 9%, the haemoglobin concentration 16.6 +/- 2.4 g/dl; hepatic transaminase levels were normal. The 6 minute walk test before treatment was 216 +/- 111 m with marked desaturation on exercise (49 +/- 18%). With Bosentan, patients were globally much better clinically with a decrease in dyspnoea, improvement in NHYA class and increased 6 minute walking perimeter. Improvement in NYHA class was observed from 3 months' treatment (3.0 +/- 0.8, p = 0.0002) and was sustained to one year (2.54 +/- 0.7, p< 0.001). An improvement of dyspnoea on Borg's scale was observed from the second month's treatment (5.56 +/- 1.65, p = 0.0201) and persisted throughout follow up to one year (3.81 +/- 1.32, p < 0.0001). Similarly, the 6 minute walking perimeter increased from the first control at 6 months (323 +/- 82 m, p < 0.0001) and at one year (322 +/- 62 m, p <0.0004). Finally, although a significant increase in SaO2 was observed at 6 months (p = 0.0032), this was hardly significant at one year (82 +/- 10 %, p = 0.0512). Transaminase levels did not rise significantly at the follow up visits (p = ns) and the haemoglobin concentration was unchanged. No patient died during the study period. This study showed a clear functional improvement in patients with Eisenmenger's syndrome treated with bosentan. The drug was well tolerated clinically with few adverse effects and a good safety margin of usage.

Percutaneous transluminal balloon valvuloplasty of congenital pulmonary valve stenosis, with a special report on infants and neonates.

Fifty-six percutaneous transluminal balloon valvuloplasty procedures were performed in 51 patients suffering from congenital pulmonary valve stenosis. The patients ranged in age from 1 day to 60 years (mean 6.9 years); 21 were infants less than 1 year of age, including 8 neonates. The peak systolic pressure gradient was greater than 50 mm Hg (mean 81.5) in 47 cases, and less than 50 mm Hg (mean 34.6) in 9. Valvuloplasty enabled a reduction in the mean right ventricular peak systolic pressure from 93.1 to 51.6 mm Hg (p less than 0.001), the mean transvalvular gradient from 73.4 to 27.0 mm Hg (p less than 0.001) and the mean right ventricular pressure expressed as a percent of systemic pressure from 99.5 to 52.0% (p less than 0.001). In infants and neonates, the mean right ventricular pressure expressed as a percent of systemic pressure decreased from 117.3 to 64.4% (p less than 0.001). In 23 patients, follow-up cardiac catheterization at 1 to 17 months revealed a significant change in the right ventricular systolic pressure, which decreased from 54.0 to 46.7 mm Hg (p less than 0.05), and in the peak systolic pressure gradient, which decreased from 27.3 to 22.6 mm Hg (p less than 0.05). Valvuloplasty is an effective procedure in relieving pulmonary stenosis in patients of all ages, including neonates.

Percutaneous balloon angioplasty in an infant with obstructed total anomalous pulmonary vein return.

This is a report of successful dilation of stenosis of the common trunk in a case of total anomalous pulmonary vein return into the left superior vena cava in a 3 month old infant. Percutaneous angioplasty was performed with a 6 mm diameter balloon catheter. Right ventricular systolic pressure decreased from 96 to 60 mm Hg, mean pulmonary vein pressure decreased from 26 to 14 mm Hg and left ventricular systolic pressure increased from 70 to 90 mm Hg.

Solution structure of R-elafin, a specific inhibitor of elastase.

The solution structure of r-elafin, a specific elastase inhibitor, has been determined using NMR spectroscopy. Characterized by a flat core and a flexible N-terminal extremity, the three-dimensional structure is formed by a central twisted beta-hairpin accompanied by two external segments linked by the proteinase binding loop. A cluster of three disulfide bridges connects the external segments to the central beta-sheet and a single fourth disulfide bridge links the binding loop to the central beta-turn. The same spatial distribution of disulfide bridges can be observed in both domains of the secretory leukocyte protease inhibitor (SLPI), another elastase inhibitor. The structural homology between r-elafin and the C-terminal domain of SLPI confirms the former as a second member of the chelonianin family of proteinase inhibitors. Based on the homology between the two proteins and recent results obtained for elastase binding mutants of the bovine pancreatic trypsin inhibitor (BPTI), we define the segment 22 to 27 as the binding loop of elafin, with the scissile peptide bond between Ala24 and Met25. In our solution structures, this loop is extended and solvent-exposed, and exhibits a large degree of flexibility. This mobility, already observed for the binding loop in other protease inhibitors in solution, might be an important feature for the interaction with the corresponding protease.

[Pulmonary atresia with an intact interventricular septum]. / Atrésie pulmonaire à septum interventriculaire intact. Expérience d'un centre à propos de 35 patients.

We report this centre's experience of the treatment and follow up of pulmonary atresia with an intact septum. 35 infants were seen during the neonatal period. Opening via catheterisation was attempted in 21 patients with initial success in 10, and 11 failures leading to urgent surgery (surgical opening, n=9) and isolated Blalock-Taussig anastomosis (n=2). Fourteen other patients underwent immediate surgery: surgical opening, n=3, and Blalock alone, n=11. Four patients died in the neonatal period: 1 after successful opening via catheterisation, 3 others after Blalock anastomosis. Five others with a Blalock anastomosis died suddenly later. By the end of follow up, 16 patients had undergone biventricular type repair, of which 7 required additional procedures. 10 others had undergone cavo-pulmonary type repair, including 4 infants in whom the initial strategy of biventricular repair had failed. The only predictive factors at birth for subsequent progression to biventricular type repair were: larger tricuspid diameter at echography (10.9 +/- 2.25 mm versus 6.34 +/- 1.74 mm, p = 0.0007) or at angiography (10.07 +/- 2.09 mm versus 8.04 +/- 2.42 mm, p = 0.039), and the right ventricular morphology (p = 0.0011) with more tripartite ventricles, and less bipartite or even unipartite ones in the biventricular group.

Echocardiographic follow-up after Ross procedure in 100 patients.

The Ross procedure could provide an ideal aortic valve replacement method in children and young adults. We evaluated midterm echocardiographic results to assess pulmonary homograft function as well as pulmonary autograft dimensions and function. In all, 105 patients (26 women and 79 men) underwent the Ross procedure; median age at implant was 29 years. All patients underwent free root replacement. Transvalvular gradients and autograft dimensions were measured at 3 levels (annulus, sinuses of Valsalva, and proximal aorta) at discharge, at 6 months, and annually thereafter. Perioperative mortality was 4.7%. The mean period for echocardiographic follow-up in 100 patients was 32.7 months (range 0.5 to 7 years), during which 4 noncardiac-related deaths occurred. Two patients underwent late reintervention. No moderate or severe regurgitation was recorded. There was 1 case of mild homograft regurgitation and 4 of mild autograft regurgitation at late follow-up. Autograft peak gradients were low and reproducible (5 +/- 2.8 mm Hg at discharge vs 5.5 +/- 3.5 mm Hg at last follow-up, p = NS). Homograft peak gradients increased significantly without severe obstruction (7.8 +/- 5.7 mm Hg at discharge vs 15.8 +/- 9.2 mm Hg at last follow-up). The diameter of the autograft annulus was stable during follow-up, whereas autograft dimensions at sinuses and proximal aorta increased significantly. One group of patients was identified with sinus diameter increases >20% (group A). The 90 remaining patients were classified into group B. The only parameter significantly different between the 2 groups was the sinus diameters measured at discharge (1.74 cm/m2 (group A) vs 1.92 cm/m2 (group B); p = 0.036). In 100 patients and with echocardiographic follow-up for up to 7 years, the Ross procedure showed excellent results. For 10% of patients, we observed a 20% dilation of sinus diameters, but in only 3 patients (3%) was this beyond the upper normal limit.

[Follow-up of surgically treated congenital heart disease using Doppler echocardiography]. / Surveillance par échocardiographie Doppler des cardiopathies congénitales opérées.

Surgery can restore normal cardiac anatomy in some forms of congenital heart disease but in others this is not possible even after a "complete correction". In yet other forms, surgery is only palliative. Echocardiography coupled with pulsed, continuous wave and color coded Doppler should be carried out after clinical, electrocardiographic and radiological examination to assess the surgical results and detect possible complications in the short or long-term. It is therefore important to be familiar with the "normal" appearances of operated congenital heart disease in order to be able to detect postoperative abnormalities. The authors describe the normal postoperative findings for each form of congenital abnormality and the changes which may be observed during Doppler echocardiographic examination. This paper only deals with the more simple malformations: ventricular septal defect, atrial septal defect, atrioventricular canal, patent ductus arteriosus, coarctation of the aorta, aortic stenosis, tetralogy of Fallot and simple transposition of the great vessels.

[Left coronary artery arising from the pulmonary artery. Demonstration by 2-dimensional echocardiography]. / Artère coronaire gauche née de l'artère pulmonaire. Mise en évidence par échocardiographie bidimensionnelle.

The authors report the case of a baby in whom an ectopic left coronary artery arising from the pulmonary artery was suspected on clinical and, in particular, electrocardiographic criteria. M mode echocardiography showed left ventricular dilatation with reduced shortening fraction of the LV internal diameter. 2D echocardiography with a mechanical sector scanner demonstrated the left coronary artery arising from the pulmonary artery. The short axis view of the basal vessels in the left parasternal incidence visualised 2 cm of the left coronary artery arising from the posterior part of the pulmonary artery.

[Calcification and healing of infectious myocardial pseudoaneurysms. Apropos of 2 cases]. / Calcification, mode de guérison des pseudo-anévrismes myocardiques infectieux. A propos de deux observations.

The authors present two cases of infectious myocardial pseudo-aneurysms: the first was secondary to an intracardiac foreign body with mitral valve endocarditis; the second to septicaemia of urinary origin. Both cases progressed to calcification of the pseudo-aneurysm which appeared to be a mode of healing. Reviewed 20 and 19 years respectively after the initial episode, both patients have normal cardiac appearances apart from the residual myocardial calcification.

[Aortic valve insufficiency: an unrecognized complication of the surgical repair of ostium primum atrial septal defect]. / L'insuffisance aortique: une complication méconnue de la fermeture chirurgicale de la communication interauriculaire ostium primum.

Between 1974 and 1989, eight children undergoing surgical repair of a partial atrioventricular canal comprising an ostium primum atrial septal defect, mitral regurgitation due to a cleft mitral valve (6 cases) and a small ventricular septal defect (1 case) developed aortic regurgitation. This complication was diagnosed on the finding of a diastolic murmur 1 day to 9 years after the repair of the atrial septal defect. The degree of regurgitation was Grade I in 4 cases but in the other patients it was severe from the outset requiring emergency surgery the next day (1 case), or moderate at the beginning but rapidly progressive (1 case) or slowly progressive (2 cases) leading to aortic valvuloplasty in these 3 patients. The cause of the regurgitation was iatrogenic: perforation of the non coronary cusp secondary to repair of the ostium primum atrial septal defect. None of the patients required aortic valve replacement. After surgical valvuloplasty, all children had Grade 1 aortic regurgitation. Color coded Doppler echocardiography confirmed the diagnosis and helped assess the clinical course of this lesion during follow-up.

[Agenesis of the pulmonary valves. Experience over 20 years]. / L'agénésie des valves pulmonaires. Expérience sur 20 ans.

Absent pulmonary valve is a rare cardiac malformation, usually associated with a tetralogy of Fallot. It features aneurysmal dilatation of the pulmonary arteries which may compress the bronchial tree and lead to respiratory distress. The experience of our group over a 20 year period (20 patients) is reported. The diagnosis was usually made in the neonatal period in the presence of cardiomegaly and a systolic and diastolic murmur at the left sternal border. The diagnosis was made at antenatal echocardiography in 2 cases. Ten patients were not operated and 4 of them died in the neonatal period of respiratory distress and 2 others of extracardiac causes. Three children are on the waiting list for surgical correction and the remaining child is asymptomatic. The other 10 cases were operated with a minimum closure of the ventricular septal defect and widening of the pulmonary tract. The latter procedure was performed with an infundibulo-pulmonary patch (6 cases) and insertion of a pulmonary valve (4 patients) (monocusp patch in 3 cases, pulmonary heterograft in one case). Eight patients underwent a reduction procedure of the pulmonary arteries to relieve branchial compression. Of those who were operated, two died during follow-up: the first of complete atrioventricular block and the second of infectious endocarditis of the stenosed pulmonary heterograft. These results show that reduction procedures of the pulmonary arteries are promising approaches which should improve the future prognosis of young patients with respiratory distress. The need for insertion of a pulmonary valve remains debatable.

[Treatment with urokinase of systemic arterial thrombosis in the newborn infant]. / Traitement par l'urokinase des thromboses artérielles systémique du nouveau-né.

The records of 5 neonates with systemic arterial thrombosis (aortic in one case, peripheral in four cases) were reviewed. Fibrinolysis was performed with urokinase administered by infusion (1,000 to 4,000 U/kg/h). This treatment was combined with heparin therapy in 4 cases. Thrombosis was due to various causes: umbilical arterial catheter (1 case), disorders of supraventricular rhythm in utero (1 case), aneurysm of the ductus arteriosus with dysplastic aortic arch vessels (2 cases); one of these patients also had myocardiopathy. No cause could be found in a premature child weighing 1,300 g. The presenting symptoms of systemic arterial thrombosis are ischaemia of the extremities and suppression of peripheral pulses; heart failure with arterial hypertension is frequent. In our series the diagnosis was confirmed by doppler-ultrasonography in one case and by angiography in three cases (angiography in the left ventricule with foramen ovale, or umbilical aortography). Treatment with urokinase lasted 1.5 to 7 days. In 2 children the initial dosage had to be increased as there was no clinical improvement. Four children were completely cured; the fifth child, who had left renal thrombosis, shows slight functional impairment of the left kidney. There were no haemorrhagic complications. The fibrinolytic treatment with urokinase of systemic arterial thrombosis in the newborn is effective and has few drawbacks.

[Abnormal origin of the right pulmonary artery from the ascending aorta. Echocardiographic diagnosis apropos of 2 cases]. / Naissance anormale de l'artère pulmonaire droite à partir de l'aorte ascendante. Diagnostic échocardiographique à propos de deux observations.

Anomalous origin of the right pulmonary artery from the ascending aorta is a rare congenital malformation. Formerly identified at angiography and during surgery, it can now be diagnosed by two-dimensional echocardiography, as was done in the two cases reported here. The first case was a neonate in heart failure in whom echocardiography revealed the anomalous origin of the right pulmonary artery; this diagnosis was confirmed at post-mortem examination. The second case was a 4-month old infant in heart failure; echocardiography displayed the malformation which was confirmed at angiography and surgery. In both cases echocardiography showed discontinuity between the pulmonary trunk and the right pulmonary artery and continuity between the pulmonary trunk and the left pulmonary artery. There also was continuity between the right pulmonary artery and the ascending aorta. Doppler ultrasound showed a systolic and a diastolic flow in the right pulmonary artery and only a systolic flow in the left pulmonary artery. A colour-coded doppler examination in one case confirmed the anomalous origin of the right pulmonary artery and the absence of any other abnormality. Two-dimensional echocardiography combined with colour-coded doppler ultrasound therefore is the method of choice to diagnose anomalous origin of the right pulmonary artery from the ascending aorta.

[Percutaneous closure of patent ductus arteriosus with the Amplatzer duct occluder. Results of 29 patients]. / Fermeture percutanée du canal artériel avec le dispositif Amplatzer duct occluder. Série de 29 patients.

The authors report their experience of percutaneous closure of large patent ductus arteriosus with the Amplatzer duct occluder. The age of the patients ranged from 3 months to 72 years (average 24 months) with body weights of 3.9 to 74 Kg (average 16 Kg). The smallest angiographic diameter of the ductus was 4.0 +/- 1.3 mm at angiography (range 1.8 to 6 mm). The occluder was inserted under local anaesthetic with control aortography in all but one case who required general anaesthesia. In two small babies, the implantation was performed after venous puncture alone with transthoracic echocardiographic monitoring. The implantation was successful in all but one case in which there was a distensible duct. Early angiographic control showed suppression of the shunt in 61% of patients. Secondary haemolysis was observed in one case and was corrected by a second catheterisation 4 days later, with occlusion of the duct with a balloon catheter. The patients were followed up clinically, radiologically and echocardiographically. Doppler echocardiography showed absence of a residual shunt in 24 patients (86%) one month after the procedure, in 25 patients (89%) 3 months after the procedure and in 26 patients (93%) one year after the procedure. Two patients were left with mild or moderate shunts 12 and 16 months after the attempted occlusion. No cases of aortic or pulmonary obstruction were observed. The authors conclude that the Amplatzer duct occluder is a reliable device for closing large patent ductus arteriosus. It may be proposed in young symptomatic children over 4 Kg in body weight. A high rate of occlusion is obtained with a minimal risk of complications.

[Pulmonary valvulotomy with the Nykanen radiofrequency guide in pulmonary atresia with intact interventricular septum]. / Valvulotomie pulmonaire avec le guide à radiofréquence Nykanen dans l'atrésie pulmonaire à septum interventriculaire intact.

We report 2 cases of pulmonary atresia with intact interventricular septum where perforation of the pulmonary valve was performed using a new Nykanen radiofrequency guide from Bayliss. The valvulotomy was successful in the two neonates, but one required secondary surgery to enlarge the pulmonary infundibulum. Moreover, in one of the two cases, this anomaly was associated with a right aortic arch without systemico-pulmonary vessels, which is a rare combination in this pathology. This technique is effective and safe, and represents a good alternative to open surgery in the forms with tripartite right ventricle and without coronaro-cardiac fistulae.

[Aneurysm of the sinus of Valsalva in children and young adults. Apropos of 9 cases]. / L'anévrysme du sinus de Valsalva chez l'enfant et l'adulte jeune. A propos de 9 observations.

Nine cases (7 boys and 2 girls) of aneurysm of the sinus of Valsalva (SVA) diagnosed before 19 years of age are reported. Group 1 comprised 5 children aged 5 to 14 years without rupture of the aneurysm; 3 had an associated ventricular septal defect (VSD). The diseased sinus was the right anterior sinus in 4 cases and the posterior sinus in one case. The diagnosis was made by 2D echocardiography, performed in 3 patients for follow-up of a VSD and in 2 patients to investigate a systolic murmur. Group 2 comprised 4 patients under 19 years of age with SVA which ruptured into in the right heart cavities. One of these patients had a known right anterior SVA diagnosed at angiography performed to investigate a VSD when the child was 4 years old. The rupture occurred suddenly when the child was 14. These cases of SVA involved the right anterior sinus with rupture into the right ventricle (3 cases) and the posterior non-coronary sinus with rupture into the right atrium (1 case). A rupture syndrome was observed in 3 of the 4 patients with pulmonary oedema in 2 cases. The authors emphasise the rarity of SVA diagnosed before rupture and the low frequency of rupture before adulthood. Echocardiography is certainly the best method for diagnosing the condition and for following up these patients.

[Familial scimitar syndrome]. / Le syndrome du cimeterre à forme familiale.

The authors report a new case of a familial form of the scimitar syndrome: father and son. Both presented an adult form which was well tolerated. Another familial form has been reported in the medical literature: father and daughter. The authors discuss the possible genetic mode of transmission in the light of these two cases.