The Italian Multicentric Study on Epidemiology of Congenital Heart Disease: first step of the analysis. Working Party of the Italian Society of Pediatric Cardiology.

We present the aims, methodology and initial results from the Italian Multicentric Study for the registration and follow-up of congenital heart disease. The general aims are to measure the prevalence of congenital heart disease in different geographic areas of Italy, and to assess the survival and outcome of affected babies. During the years 1992 and 1993, eighteen centers for Pediatric Cardiology spread all over the Country enrolled 1445 new babies with congenital cardiac malformations from a population of 341,647 surveyed livebirths. The new cases were registered using the same methodologic criteria of the EUROCAT study in order to evaluate differences and/or similarities between the studies. The prevalence varied between 1.8% and 8.1%; the average being 4.6%. The large range in prevalence is presumed to be related to different customs and hierarchies in flow and referral of patients. We provide total prevalence of individual lesions, and distribution of sentinel cardiac anomalies, in the Italian study and compare them with EUROCAT. Isolated ventricular septal defect is the most common lesion (39%); followed by atrial septal defect (7.5%); pulmonary valvar stenosis (7.3%); atrioventricular septal defects (5.4%); patency of the arterial duct (3.8%); complete transposition (3.7%); tetralogy of Fallot (3.3%); aortic coarctation (2.4%); aortic valvar stenosis (2.2%); and left heart hypoplasia (1.8%). The echographic stratification of ventricular and atrial septal defects, by location and size, was in keeping with the findings of the EUROCAT study. Because of the recent widespread availability of color-Doppler techniques, the stratification of aortic and pulmonary valvar stenosis was an innovative approach in our study. Among the complex cardiovascular anomalies, double inlet ventricle and pulmonary atresia had a proportion of about 2% each; with double outlet right ventricle, common arterial trunk, Ebstein's malformation, tricuspid atresia, interrupted aortic arch and totally anomalous pulmonary venous connection having a proportion ranging from 0.5 to 0.8%. We discuss clinical features, such as frequency of extracardiac anomalies and familial aggregation of congenital heart disease, in comparison with the EUROCAT data.     

What is the optimal time to repair atrioventricular septal defect and common atrioventricular valvar orifice?

OBJECTIVE: With improvements in technology and surgical technique, paediatric cardiologists are challenging surgeons to repair balanced atrioventricular septal defects in smaller patients. Early repair minimizes aggressive medical therapy to prevent heart failure, maintains growth, and limits exposure to elevated pulmonary pressures. We compare the outcomes of repair among different-sized children. METHODS: From December 2002 to July 2005, 92 patients underwent repair of an atrioventricular septal defect with common atrioventricular valvar orifice and balanced ventricles. We reviewed operative and postoperative data. We excluded patients weighing more than 10 kilograms, but included those who underwent concomitant closure of a patent oval foramen or atrial septal defect, or ligation of a patent arterial duct. Those requiring other concomitant procedures were excluded from the analysis. RESULTS: The median weight at repair was 4.9 kilograms, with a range from 2.93 to 7.9 kilograms, and the median age was 5.1 months, with a range from 0.39 to 9.6 months. Operative data included the time required for cardiopulmonary bypass, aortic cross-clamping, and the overall procedure. These times were not significantly affected by decreasing weight. Postoperative continuous data included duration of ventilation and length of intensive care unit and hospital stay. Stay in intensive care (p = 0.006) and hospital (p = 0.007) both increased significantly with decreasing weight. Postoperative categorical data included presence of residual ventricular septal defects, regurgitation across the left atrioventricular valve, and complications. While there was no difference in residual defects (p = 0.166) or valvar regurgitation (p = 0.729), there was a significantly higher presence of complications with decreasing weight (p = 0.0043). There was no mortality, and no persistent heart block requiring placement of a permanent pacemaker. CONCLUSIONS: Our data shows that, with the exception of a slightly longer and more complicated postoperative course, early surgery for symptomatic patients with atrioventricular septal defects and common atrioventricular valvar orifice can be undertaken safely and effectively in smaller children with excellent outcomes.     

An unrecognized combined congenital heart defect – Bicuspid aortic valve and ventricular septal defect as a cause of acute heart failure in adulthood

Bicuspid aortic valve is the most frequent congenital heart malformation in adulthood with incidence between 0.5 and 2%. Moreover, bicuspid aortic valve could be connected with other congenital heart defects and malformations of the aortic arch and ventricular septal defects, which is the second most frequent congenital heart malformation. Its incidence in childhood is about 25–40%, and in adulthood, the incidence is lower, about 20% of all congenital heart defects. Bicuspid aortic valve is the most frequent cause of aortic stenosis and aortic insufficiency at an early age. The heart malformations are mostly diagnosed at an early age and corrected surgically, if hemodynamically severe. However, in some cases, congenital heart defects may be missed and are only detected in adulthood. We report on a case of 51-year-old man with an unrecognized combined congenital heart defect: bicuspid aortic valve (with severe aortic insufficiency), a serious defect of ventricular septum (with pulmonary hypertension) and severe tricuspid valve insufficiency, presenting as an acute heart failure.     

Genetic basis of congenital heart disease

PURPOSE OF REVIEW: Although the care of infants and children with congenital heart defects has been revolutionized over the past 50 years, their underlying causes have been obscure. Recent progress, accelerated through the Human Genome Project, has resulted in the rapid identification of disease genes causing congenital heart defects. RECENT FINDINGS: In this review, progress in identifying new congenital heart defect genes for specific lesions and in understanding their disease pathogenesis in the past year are detailed. Specifically, genes relevant for atrial and atrioventricular septal defects, patent ductus arteriosus, bicuspid aortic valve, and coarctation of the aorta as well as pulmonary valvar and branch stenosis are reviewed. SUMMARY: The information in this review provides insights into the state-of-the-art knowledge about the molecular genetic causes of congenital heart defects. It suggests that DNA testing may become standard for many forms of congenital heart defects, improving clinicians' ability to anticipate complications for their patients and predict recurrence risk for families of children with congenital heart defects.     

Surgical experience with congenital heart disease in Down's syndrome

Children with Down's syndrome and congenital heart defects have multiple problems. The role of cardiac surgery in the management of these patients was investigated by reviewing the clinical data, hospital course and follow-up of 21 patients (9 males and 12 females, age range 1 month to 14 years) with Down's syndrome and congenital heart defects operated in our institute. Twelve (57%) of these were infants and nine (43%), older children. Five were in congestive cardiac failure, four were hypothyroid. The heart lesions ranked in incidence as follows: atrioventricular septal defect 7 (33.3%), tetralogy of Fallot 3 (14.3%), tetralogy of Fallot & atrioventricular septal defect both 2 (9.5%), double outlet right ventricle with pulmonary stenosis 1 (4.8%), patent ductus arteriosus 2 (9.5%), patent ductus arteriosus plus coarctation 1 (4.8%), ventricular septal defect 2 (9.5%), atrial septal defect plus ventricular septal defect 1 (4.8%), atrial septal defect plus patent ductus arteriosus plus right pulmonary artery stenosis 1 (4.8%) and transposition of great arteries with multiple ventricular septal defect 1 (4.8%). Four (19%) patients had palliative procedures while the rest (81%) underwent primary repair. All survived the operation. The post-operative period was complicated in 6 (28.5%), with respiratory infections in 3, pulmonary hypertensive crisis in 2 and complete heart block in 1. The early mortality was 0, while there were 2 (9.5%) late deaths. The number of hospitalisations was markedly reduced according to the parents. Follow-up showed near normal pulmonary artery pressure in 50 percent children with large shunts and a good developmental spurt was seen in 60 percent. From a purely surgical viewpoint, the prognosis for children with Down's syndrome and congenital heart disease is good.     

Complete Atrioventricular Septal Defect and Pulmonary Stenosis Diagnosed in a 49-Year-Old Woman after 10 Uneventful Births

Atrioventricular septal defects constitute 4% of all congenital cardiac malformations. Patients with complete atrioventricular septal defect rarely survive for decades without surgical treatment. Pulmonary stenosis can provide a delicate balance between the pulmonary and systemic circulations and thereby increase longevity. We present the case of a 49-year-old woman whose complete atrioventricular septal defect and associated pulmonary stenosis were diagnosed only after she had given birth to 10 live children through uneventful spontaneous delivery. We discuss her successful surgical treatment in terms of the available medical literature.     

Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study.

OBJECTIVE: To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy. MATERIAL: Necropsies were performed on 815 fetuses-448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)-during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed. RESULTS: Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%). CONCLUSIONS: Fetal congenital heart malformations are common. These defects are often associated with other cardiovascular and extracardiac malformations, as well as with chromosome anomalies. Complex heart defects such as AVSD, HLH, and DORV are frequent in fetuses, as they often lead to spontaneous abortion or stillbirth or, after prenatal diagnosis, to deliberate termination of pregnancy.     

心内直视下镶嵌治疗肌部室间隔缺损

目的 探讨心内直视下镶嵌治疗肌部室间隔缺损（mVSD）的手术方法及临床疗效.方法 2008年1月至2013年7月,在体外循环心内直视下镶嵌治疗肌部室间隔缺损29例,男19例,女10例,年龄2个月～7岁;其中单个肌部室间隔缺损7例,多发室间隔缺损22例.合并法洛四联症5例,完全性大血管转位1例,肺动脉瓣狭窄3例,房间隔缺损6例,主动脉缩窄3例.合并心脏畸形均同期手术纠治.结果 死亡2例,死亡率6.9％.术后随访3个月～3年,无远期死亡,封堵器边缘少量残余分流3例,无封堵器偏移、二尖瓣反流、主动脉瓣反流、Ⅲ度房室传导阻滞.结论 心内直视下镶嵌治疗肌部室间隔缺损是一种安全、简便、有效的方法.     

Cardiovascular findings, and clinical course, in patients with Williams syndrome

AIMS: We investigated the incidence and outcome of cardiac malformations in 53 patients with Williams syndrome. METHODS AND RESULTS: The mean age, and period of follow-up, were 3.6 and 5.3 years, with standard deviations of 4.0 and 5.6 years, respectively. Of the patients, 45 (85%) had cardiovascular anomalies, often combined. Males presented earlier than females, at the ages of 2.1 years, with standard deviation of 2.8 years, as opposed to 4.5 years, with standard deviation of 4.2 years (p < 0.01). Supravalvar aortic stenosis occurred in 32 patients (71%), pulmonary arterial stenosis in 17 (38%), and mitral valvar prolapse in 12 (27%), 9 of these having regurgitant valves. Pulmonary valvar stenosis, ventricular septal defect, coarctation of the aorta, persistent patency of the arterial duct, hypertrophic cardiomyopathy, and subaortic stenosis all occurred less frequently. In 21 patients (47%), 24 surgical or catheter interventions had been made, most often for repair of supravalvar aortic stenosis, undertaken on 16 occasions with just one recurrence, and in 4 along with surgery to the mitral valve. Other lesions requiring intervention were pulmonary valvar stenosis, pulmonary arterial stenosis, coarctation of the aorta, and subaortic stenosis. We lost 3 patients (7%), with severe supravalvar aortic stenosis and moderate or severe mitral regurgitation, 2 early and one late after surgery. CONCLUSION: The most frequent cardiovascular anomalies in Williams syndrome were supravalvar aortic stenosis, pulmonary arterial stenosis, and mitral valvar prolapse, which occurred more frequently in our patients than previously observed. Patients with left ventricular pressure and volume overload were at greater risk.     

Long-term survival in children with atrioventricular septal defect and common atrioventricular valvar orifice in Sweden

BACKGROUND: The survival for patients with atrioventricular septal defect has improved markedly over the last decades and, during the same period, the survival of children with Down's syndrome has also increased. The aim of our study was to investigate long-term survival in patients having atrioventricular septal defect with common valvar orifice, but without associated significant congenital heart defects, in the setting of Down's syndrome, comparing the findings to those in chromosomally normal children with the same malformation. METHODS AND RESULTS: In a population-based retrospective study, we scrutinised the medical records from 801 liveborn children with atrioventricular septal defect born in Sweden during the period 1973 through 1997. Data on gender, presence or absence of Down's syndrome, associated congenital heart defects, date of birth, operation and death were recorded and followed up until 2001. An isolated atrioventricular septal defect with common atrioventricular valvar orifice was present in 502 children, of whom 86% had Down's syndrome. We found a significant reduc tion over time in age at operation, and in postoperative mortality at 30 days, from 28 to 1%. Using a multiple logistic regression model, we found no significant differences in mortality between genders, nor between those with or without Down's syndrome. Early corrective surgery could not be identified as a significant independent factor for survival. The 5-year postoperative survival in patients with Down's syndrome increased from 65% over the period from 1973 through 1977, to about 90% in the period 1993 through 1997, and the same trend was observed in chromosomally normal patients. CONCLUSIONS: Survival in uncomplicated atrioventricular septal defect with common atrioventricular valvar orifice has greatly increased, and surgical correction is now equally successful in patients with Down's syndrome and chromosomally normal patients, and for both genders. Death in connection with surgery is no longer the major threat, and focus must now be on long-term follow-up.     

Williams syndrome associated with complete atrioventricular septal defect

Williams syndrome is a genetic disorder associated with characteristic facies, supravalvar aortic stenosis, peripheral pulmonary stenosis, mental retardation, hypertension, premature aging of skin, and congenital cardiac defects. Many cardiac defects such as bicuspid aortic valve, mitral valve regurgitation, coarctation of the aorta, and ventricular or atrial septal defects are linked to the syndrome. Complete atrioventricular septal defect has rarely been associated with Williams syndrome and only one necropsy case has been reported in the literature. The long term follow up of Williams syndrome associated with complete atrioventricular septal defect is reported. During a 10 year follow up period, the pressure gradient in the ascending aorta did not increase despite narrowing of the ascending aorta as identified on an aortogram.     

Early clinical screening of neonates for congenital heart defects: the cases we miss.

In a population-based study of 35,218 infants born alive during the 15 years from 1982 to 1996, 353 (1%) were diagnosed as having a congenital heart defect, of whom 84 (24%) were diagnosed subsequent to discharge from hospital after birth (2.4/1000). Of these, 40 (48%) had a ventricular septal defect, 14 (17%) an atrial septal defect, 9 (11%) a patent arterial duct, 8 (10%) an aortic stenosis and 13 (15%) other defects. Compared with those in whom diagnosis was made before discharge, the group of patients with defects detected late had an increased prevalence of atrial septal defects, patent arterial duct and aortic stenosis, but less decreased prevalence of ventricular septal defects (p < 0.05). Median age at detection of the defects subsequent to discharge was 6 months (range 2 weeks-11 years). Seven patients (8%) presented with clinical symptoms of cardiac decompensation. The mortality rate was significantly lower in those in whom defects were detected late (1/84; 1%) as compared with those detected immediately after birth (37/269; 14%) (p < 0.05). The total rate for early detection was the same after using one clinical examination (8.2/1000) of newborns as our basic routine instead of two (7.1/1000) (p > 0.05). A substantial proportion of congenital cardiac malformations are detected after discharge from hospital after birth. Some patients with these lesions present with cardiac decompensation and are in need of medication and surgery. One clinical examination of newborns detects congenital malformations of the heart as efficient as two.     

A ten year review of atrioventricular septal defects

OBJECTIVES: To review all cases of atrioventricular septal defects in Northern Ireland from January 1990 to February 1999, examining clinical and morphological features, management, and outcome. METHODS: A retrospective case note analysis of 106 subjects with comparisons between subgroups. RESULTS: An atrioventricular septal defect was part of a more complex abnormality in 50 of the patients (47%). Down's syndrome was present in 57 (54%). Cardiac surgery was performed in 81%. The defects were unrestrictive in 69 patients (65%), 45 of whom had Down's syndrome. Complex associated abnormalities existed in 36 patients, and 10 of these died without cardiac surgery. Operative mortality was 9.5% for those with co-existing Down's syndrome group, and 14.3% for the chromosomally normal patients. The ventricular components of the septal defect were restrictive in 23 patients (22%), with 9 having Down's syndrome. Spontaneous closure occurred in more than half of these patients. Mortality was zero. The septal defect was exclusively at atrial level in 14 patients ("primum" defects--13%), and 3 of these had Down's syndrome. Operative mortality was again zero. Median duration of postoperative follow-up was 3 and a half years. Overall, moderate to severe left atrioventricular valvar regurgitation was observed postoperatively in 23% at follow-up. CONCLUSIONS: Mortality was highest in the atrioventricular septal defects with an unrestrictive ventricular component. Uncomplicated cases had good outcomes. Patients without Down's syndrome tended to have more associated cardiac abnormalities, and to have more postoperative arrhythmias. Approximately half of the defects with restrictive ventricular components closed spontaneously. Moderate postoperative left atrioventricular valvar regurgitation was commonest in patients with the defect exclusively at atrial level.     

Right aortic arch associated with congenital heart defects

The author's experience in the association of right aortic arch and congenital cardiac malformations is reported. We found 56 cases out of 1200 congenital cardiac malformations which constitutes 4.6%. In the classification of Knight and Edwards, type I right aortic arch was the most frequent (96%) and it was associated principally with Tetralogy of Fallot (46%), transposition of the great vessels (14.3%), truncus arteriosus (12%), tricuspid atresia (10.7%) and complex cardiac malformations associated with the syndrome of visceral heterotaxy (10.7%). In type II and type III we found only one case of each and these were associated with pulmonary valvular stenosis, atrial septal defect and ventricular septal defect. It is noted that the right aortic arch has never been associated with total anomalous pulmonary venous return nor with mitral or aortic valvular malformations.     

A possible increase in the incidence of congenital heart defects among the offspring of affected parents

The incidence of congenital heart disease in the children of 219 probands was determined. Each of these probands had one of four selected defects: atrial septal defect, coarctation of the aorta, aortic valve stenosis or complex dextrocardia. Of their children, 8.8% had substantial congenital cardiac defects. This is a much higher incidence than that reported in most comparable studies. The difference is highly significant statistically and therefore is likely to be genuine. The cause of the high recurrence is probably environmental.     

Congenital cardiopathies in a tropical environment. Study of 259 cases seen at Abidjan from 1969-1976]

The authors report the study of 259 cases of congenital heart disease observed at Abidjan between 1969-1976. The average age of the patients was 7-8 years ranging from the newborn to 41 years. The principal malformations encountered in their order of frequency were: ventricular septal defect 38.6 p. 100, atrial septal defect 13.8 p. 100, Fallot's tetralogy 8.8 p. 100, pulmonary stenosis 8.1 100, patent ductus arteriosus 7.7 p. 100, atrioventricular canal 7.7 p. 100, transposition of the great arteries 3.8 p. 100, coarctation of the aorta 2.3 p. 100. There were associated malformations in 31 cases. 42 patients were catheterised at Abidjan, 28 were operated, 12 at Abidjan. These statistics are compared to those already reported of congenital heart disease in tropical and western countries. There is little difference in the distribution of the various cardiac malformations. Two congenital malformations appear to be less frequent in the Tropics: coarctation of the aorta and aortic stenosis.     

Down Syndrome with Complete Atrioventricular Septal Defect,Hypertrophic Cardiomyopathy,and Pulmonary Vein Stenosis

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome—an apparently unique combination. In addition, we discuss the relevant medical literature.     

Congenital heart defects in La Réunion Island: a 6-year survey within a EUROCAT-affiliated congenital anomalies registry

OBJECTIVES: This study compares the prevalence and perinatal mortality of congenital heart defects on La Réunion with European (EUROCAT) standards. Methods and results Data were extracted from a EUROCAT-affiliated congenital malformations registry, covering 88,025 births during the period 2002-2007, on the whole island territory. A total of 512 congenital heart defects were registered, including 424 live births, 18 foetal deaths from 16 weeks of gestation, and 70 terminations of pregnancy. The total prevalence of congenital heart defects was 5.8 per 1000 births and live birth prevalence was 4.8 per 1000. The total prevalence of non-chromosomal congenital heart defects was 5.1 per 1000 births, of which 3% were perinatal deaths, 33.3% prenatally diagnosed, and 11.6% termination of pregnancy. Severe non-chromosomal congenital heart defects - excluding ventricular septal defects, atrial septal defects, and pulmonary valve stenosis - occurred in 2.1 per 1000 births, of which 10.3% were perinatal deaths, 59.1% prenatally diagnosed, and 24.3% termination of pregnancy. Of the severe congenital heart defects, the rates of single ventricle (0.20‰), Ebstein anomaly (0.11‰), common arterial trunk (0.25‰), and atrioventricular septal defect (0.62‰) exceeded averages found in Europe, although coarctation of the aorta was infrequent. Conversely, rates of ventricular septal defects, atrial septal defects, and pulmonary valve stenosis were inferior to European standards. Slightly less than half of the congenital heart defects of chromosomal origin were associated with Down syndrome. Conclusion In La Réunion, the total prevalence of congenital heart defects is far inferior to that found in Europe. The difference can be attributable to lower prevalences of mild congenital heart defects.     

Cardiac arrest in patient with significant pulmonary regurgitation after surgical valvulotomy at 10 years of age for isolated pulmonary stenosis

The number of adult patients with a congenital heart defect has increased. They are 2–3 times more numerous than children suffering from congenital heart defects, therefore, it is important to be aware of the most frequent congenital heart defects in adulthood – atrial septal defect, ventricular septal defect, aortic coarctation, tetralogy of Fallot and pulmonary stenosis. These patients either underwent one or more operations in childhood, or were not operated at all (defect was not significant or inoperable), or the heart defect was not diagnosed (mostly atrial septal defect). Some of the patients for various periods of time stop attending regular follow-ups and being asymptomatic (even in cases of hemodynamically significant defects), they do not seek medical attention. We present the case of a 46-year-old man with gradually progressing pulmonary regurgitation after surgical valvulotomy at 10 years of age. Despite regular follow-ups by the cardiologist, the patient was never referred to a specialized centre and cardiac arrest caused by ventricular fibrillation occurred after physical exercise.     

Heart malformations in trisomy 13 and trisomy 18]

Congenital heart diseases were studied in children diagnosed of trisomy 13 and trisomy 18 in our hospital between January 1973 and July 1990. Twenty patients with trisomy 18 were diagnosed (18 females and two males). All had cardiac malformations. The findings were: ventricular septal defect in 16 cases (80%), valvular anomalies in 12 (63%), patent ductus arteriosus in nine (47%) and atrial septal defect or patent foramen ovale in 7 cases (36%). We found some complex congenital cardiac diseases: one atrioventricular canal, one tetralogy of Fallot, one hypoplastic left ventricle with mitral atresia and double outlet right ventricle, one case of univentricular heart with aortic outlet from a rudimentary cavity, a right ventricular atresia with pulmonary and tricuspid valves atresia. Nine cases of trisomy 13 were diagnosed (seven females and two males). We found: ventricular septal defect in 7 cases (77%), valvular disease in five (100% of the necropsy studies), secundum atrial septal defect in 4 patients (80%) and patent ductus arteriosus in two. Two cases presented hypoplastic left ventricle with aortic arch hypoplasia, one of them had subaortic stenosis and left superior vena cava being connected to the right atrium via coronary sinus; one case showed fibroelastosis. Our results have been similar to the previously reported and confirm the invariably presence of cardiac malformations in these syndromes. These malformations are an important sign of suspicion in fetal ultrasonography.