[Epidemiological, clinical and echographic profile of patients operated for subvalvular aortic stenosis in the region of Sfax (Tunisia) and factors associated with postoperative recurrence: an observational study]. / Profil épidémiologique, clinique et échographique des patients opérés pour un rétrécissement aortique sous-valvulaire dans la région de Sfax (Tunisie) et facteurs associés à la récidive post-opératoire: étude observationnelle.

Subvalvular aortic stenosis is difficult to manage due to the evolutionary unpredictability of stenosis and a high recurrence rate after surgical treatment. The purpose of this study is to describe the profile of patients undergoing surgery for the treatment of aortic subvalvular stenosis and to investigate factors associated with post-operative recurrence of the subaortic obstacle. We conducted an observational study of all patients operated for subvalvular aortic stenosis, whose data were collected in the Department of Cardiology of the Sfax University Hospital between January 2010 and December 2020. The study involved 28 patients, with predominance of male sex (64.29%, n=18). At diagnosis, the mean age was 6.82 (±4.84) years and 19 patients (67.85%) had symptoms. On echocardiography, maximal subaortic gradient ≥50 mmHg was found in 23 patients (82.14%). Cardiovascular malformations associated with subvalvular stenosis were found in 16 patients (57.14%). The average age of patients at the time of surgery was 10.43 (±7.08) years. Subaortic membrane resection was the most commonly used technique (46.4%, n=13). It was associated with septal myomectomy in 8 patients (28.6%). Postoperative mortality rate was zero. Residual gradient ≥30 mmHg was reported in 8 patients (28.6%) after surgery. Recurrences were observed in 7 patients (25%) of whom 6 underwent reintervention. In multivariate analysis, only postoperative residual gradient was significantly associated with recurrence (p=0.030, OR=33.785, 95% CI: 1.398-816.754). Despite old age at diagnosis and surgery, favorable short-term outcomes were reported, but recurrences were frequent in the long term. This highlights the role of regular, perioperative and postoperative, clinical and echographic monitoring of these patients.

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.

BACKGROUND: 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, a variable degree of intellectual disability and ocular, cardiac and hand/feet abnormalities. To date, ZFHX4 is the only candidate gene implicated in the ocular findings. In this study, we evaluated a patient with a de novo 8q21.13-21.3 deletion to define a new small region of overlap (SRO) for this entity. METHODS: We conducted a clinical evaluation and comparative genomic hybridization (CGH) 4x44K microarrays in a patient with de novo unbalanced translocation t(8;16)(q21; q11.2). RESULTS: The case, a 6-year-old boy, presented dysmorphic features including an elongated face, brachycephaly with a high forehead, an underdeveloped ala, thin upper lip, micrognathia, low-set ears, hypotonia, mild intellectual disability, cortical atrophy with thin corpus callosum defect, and an atrial septal defect. No ocular abnormalities were found. Microarray analysis revealed a 9.6 Mb interstitial 8q21.11-21.3 deletion, not including the ZFHX4 gene. This microdeletion was confirmed in our patient through qPCR analysis, and both parents had a normal profile. Alignment analysis of our case defined a new SRO encompassing five genes. Among them, the HEY1 gene is involved in the embryonic development of the heart, central nervous system, and vascular system. Hrt1/Hey1 null mice show perinatal lethality due to congenital malformations of the aortic arch and its branch arteries. HEY1 has also been linked to the maintenance of neural stem cells, inhibition of oligodendrocyte differentiation, and myelin gene expression. CONCLUSION: HEY1 is a candidate gene for both neurological and cardiac features of the 8q21.11 microdeletion syndrome and might, therefore, explain specific components of its pathophysiology.

Myocardial performance after coronary re-implantation in pediatric patients assessed with conventional echocardiographic and 2D-speckle tracking analysis: a case-control study.

INTRODUCTION: reduced exercise capacity, coronary artery abnormalities and reversible myocardial ischemia have been demonstrated after arterial switch operation (ASO) and coronary reimplantation. Despite this, indices of systolic function, assessed by standard and Doppler echocardiography, are within the normal range. The aim of this study was to highlight the long-term changes in myocardial function following coronary reimplantation using Doppler and speckle-tracking imaging (STI) echocardiography. METHODS: this observational case control study included 36 patients and 20 gender and age-matched healthy controls. A group study was performed using patients who were followed for at least 6 months after the operation and who visited the pediatric cardiology outpatient between October 2015 and May 2016. Systolic and diastolic parameters, left ventricle (LV) and right ventricle (RV) myocardial performance were assessed in each group. RESULTS: the LV global peak strain parameters revealed a significant decrease in the longitudinal and circumferential strain components. The LV global longitudinal strain (GLS) values were lower in both groups of operated patients than controls (-19.9 ± 2.2% (group 1) versus -20.9 ± 1.6% (group 2) versus -22.9 ± 2.3% (group 3), p<0.001). The patients with coronary reimplantation had the lowest values. The LV global circumferential strain was also decreased in the group 1 patients as compared with the 2 other groups (-16.6 ± 4.1% (group 1) versus -19.4 ± 3.9% (group 2) versus -19.8 ± 4.0% (group 3), p<0.001). CONCLUSION: although global LV function, assessed with conventional echocardiographic parameters, was normal, the 2D-STI analysis showed slight but significant decrease in the global and segmental longitudinal and circumferential LV strain during the long-term follow-up after coronary arteries reimplantation.

A novel TBX1 missense mutation in patients with syndromic congenital heart defects.

Congenital heart defects represent a characteristic part of several genetic syndromes associated with chromosomal abnormalities such as 22q11.2 deletion syndrome; many genes located in this locus, mainly TBX1, are candidate genes for congenital heart defects. In our cohort of 27 subjects with congenital heart defect, both karyotype analysis and Fluorescence in situ hybridization (FISH) were performed. The TBX1 gene was sequenced in patients lacking chromosomal abnormalities. FISH analysis showed a de novo 22q11.2 deletion in two patients. The screening of TBX1 coding sequence identified a novel missense mutation c.569C > A (p.P190Q) in six unrelated patients and detected two associated known single nucleotide polymorphisms; the c.664C > T (rs2301558) in three patients and the c.420T > C (p.Phe140 Phe) (rs41298814) in one patient. Bioinformatic tools show that the novel missense mutation c.569C > A could modify the function and the stability of the TBX1 protein. The c.569C > A mutation was not found in 50 healthy controls. Ours results suggest a deleterious role of the c.569C > A mutation and strengthen the hypothesis that this mutation might be responsible for the same phenotype spectrum as the 22q11.2 deletion syndrome.

Unusual case of ruptured sinus of valsalva aneurysm in a pregnant woman.

Sinus of Valsalva aneurysms are extremely rare, and usually of a congenital nature. There are few documented cases of this condition during pregnancy, which renders unclear the therapeutic options. We here report the case of a 26 years old pregnant woman who was referred to our cardiac center for the evaluation of a heart murmur. The two-dimensional transthoracic echocardiography allowed quickly to establishthe diagnosis of a ruptured sinus of Valsalva aneurysm into the right ventricle. A successful surgical correction of the ruptured aneurysm was performed with patch repair.

Clinical features and prognosis of infective endocarditis in children: Insights from a Tunisian multicentre registry.

BACKGROUND: Infective endocarditis (IE) is a rare condition in the paediatric setting. No data on the epidemiology and prognosis of IE in children are available from North African countries. AIM: To investigate the epidemiological profile and prognosis of IE in children in Tunisia. METHODS: All patients aged≤18 years presenting with IE in three Tunisian tertiary care centres between January 1997 and September 2013 were included. Clinical features and 30-day and 6-month mortality rates were studied. Factors predictive of death at 6-month follow-up were determined. RESULTS: A total of 73 patients were included in the present study. The mean age was 12±4.8 years; 35 (50.7%) patients were male. Rheumatic heart disease (RHD) was the underlying heart disease in 17 (23.3%) cases and IE occurred in a structurally normal heart in 36 (49.3%) cases. Staphylococcus species were isolated in 17 (23.3%) cases. Regarding IE localization, the mitral valve was involved in 28 (38.4%) cases and the aortic valve in 14 (19.2%) cases. Recourse to surgery was reported in 37 (50.7%) cases. Thirty-day and 6-month mortality rates were 13.6% and 19.2%, respectively. Heart failure on admission or during the hospital course, acute renal failure and neurological complications were significantly associated with death at 6-month follow-up in the univariate analysis and after adjustment for age and sex. CONCLUSIONS: In the Tunisian context, IE in children is still characterized by the high prevalence of RHD as an underlying heart disease. Short- and long-term mortality rates remain high. Heart failure, acute renal failure and neurological complications are significantly associated with death at 6-month follow-up.

Cirrhotic cardiomyopathy: is there any correlation between the stage of cardiac impairment and the severity of liver disease?

Cirrhotic cardiomyopathy is associated with poor prognosis and risk of acute heart failure after liver transplantation or interventional procedures. We aimed to assess the relationship between the severity of cardiac impairment and hepatic disease. Eighty patients and eighty controls underwent echocardiography, tissue Doppler imaging and speckle tracking measures. We assess the correlation between echocardiographic parameters and Child and MELD scores. Systolic parameters function (s wave, p < 0.001) and global longitudinal strain (p < 0.001) as well as diastolic parameters were significantly more impaired in cirrhotic patients compared to controls. There were no differences among the different groups in 'Child score' regarding systolic function as well as diastolic function. Paradoxically, the left atrium size correlated positively to both Child (p = 0.01, r = 0.26) and MELD scores (p = 0.02, r = 0.24). Left ventricular ejection fraction was significantly lower in decompensated patients as compared to compensated patients(p = 0.02).. We did not identify any association between severity of liver disease and cardiac dysfunction. Therefore, a transthoracic echocardiography should be performed in all cirrhotic patients before interventional and surgical procedures regardless of the severity of liver disease.

Characteristics, aetiological spectrum and management of valvular heart disease in a Tunisian cardiovascular centre.

BACKGROUND: Valvular heart diseases occur frequently in Tunisia, but no precise statistics are available. AIM: To analyse the characteristics of patients with abnormal valvular structure and function, and to identify the aetiological spectrum, treatment and outcomes of valvular heart disease in a single cardiovascular centre in Tunisia. METHODS: This retrospective study included patients with abnormal valvular structure and function, who were screened by transthoracic echocardiography at a single cardiology department between January 2010 and December 2013. Data on baseline characteristics, potential aetiology, treatment strategies and discharge outcomes were collected from medical records. RESULTS: There were 959 patients with a significant valvular heart disease (mean age 53±17years; female/male ratio 0.57). Valvular heart disease was native in 77% of patients. Mitral stenosis was the most frequent lesion (44.1%), followed by multiple valve disease (22.3%). Rheumatic origin (66.6%) was the most frequent aetiology, followed by degenerative (17.2%) or ischaemic (8.1%) causes, endocarditis (1.4%) and congenital (0.9%) causes. Native valve disease was severe in 589 patients (61.4%). Percutaneous mitral balloon valvuloplasty was performed in 36.9% of patients with mitral stenosis. Among patients with severe valvular heart disease, surgical treatment was indicated for 446 (75.7%) patients. Only 161 (36.1%) patients were finally operated. Postoperative mortality was 13.6% for all valvular heart diseases. CONCLUSION: This retrospective study has shown that the main cause of valvular heart disease in Tunisia is rheumatic fever. Mitral stenosis and multiple valve disease are the most frequent valvular heart diseases in Tunisia. Percutaneous mitral balloon valvuloplasty and prosthetic valve replacement are the preferred treatment methods for valvular heart disease.

A continuous murmur following a nonpenetrating chest trauma.

We reported a rare case of non-penetrating chest trauma-induced fistula from the right sinus of Valsalva to the right heart chambers. The ruptured sinus of Valsalva aneurysm was diagnosed preoperatively and operated on successfully. The rarity of this case highlights the need for a precise preoperative diagnosis, the role of transthoracic echocardiography, and the importance of a prompt surgical management.

Neonatal lupus erythematosus with congenital heart block in twins.

Background - Neonatal lupus erythematosus is an uncommon acquired autoimmune disease caused by transplacental passage of maternal antibodies SSA/Ro, SSB/La or U1 ribonucleoproteins. The most common clinical manifestations are skin rash, cardiac lesions, thrombocytopenia, anemia and hepatosplenomegaly. Complete congenital heart block is usually irreversible needing a pacemaker implantation in two-thirds of cases. Cases report - We report neonatal lupus erythematosus with complete congenital heart block in twins. Newborns were delivered by caesarean section at week 38 of gestation with a heart rate regular at 70 beats per minute. Both twins and mother were positive for antinuclear, anti-SSA, and anti-SSB antibodies. Twins received single-chamber pacemaker implants at day 12 of life. The evolution was immediately favorable with a heart rate around 110 beats per minute. The follow-up was 2 years. The twins are currently asymptomatic. Conclusion - Complete congenital heart block is the most serious manifestation of the neonatal lupus erythematosus associated with significant morbidity and mortality.

Echocardiographic analysis of the left ventricular function in young athletes: a focus on speckle tracking imaging.

INTRODUCTION: The objectives were to assess the left ventricular (LV) structure and function in regularly trained young athletes, using 2 D conventional echocardiographic (echo) methods and speckle tracking echocardiography (STE). An observational cross-sectional study. METHODS: Thirty-three footballers and 20 healthy untrained subjects were included in the study. The systolic and diastolic LV functions were evaluated by 2D conventional echo parameters, Doppler method and STE. RESULTS: All the found values were within the normal range. The LV End Diastolic Diameter (LVED 37.24±2.08 mm/m2) and the LV Mass index (LVMi 97.93±15.58 g/m2) were significantly higher in young athletes as compared with controls. There was no difference regarding the LV systolic function assessed by conventional echo parameters in the 2 study groups. Regarding the diastolic function, the transmitral inflow velocities ratio was significantly higher in athletes (E/A = 2.10±0.49 versus 1.64±0.26, p< 0.001) but there was no difference in the filling pressure in the 2 groups. The STE demonstrated a different pattern of LV deformation in the different groups. A significant lower LV global longitudinal strain (GLS -20.68±2.05 versus -22.99±2.32 %, p<0.001) and higher radial and circumferential strains have been found in the young athletes as compared with controls. A significant relationship between the GLS values and LVED (r= 0.299, p = 0.03) and LVMi was also reported in athletes. CONCLUSION: While conventional morphological and functional echocardiographic parameters failed to distinguish the adaptations in the athlete's heart, deformation parameters showed a different pattern of LV mechanics in young footballers versus controls.

[Statins Use in Elderly Patients]. / Place des statines chez le sujet âgé.

The risk of cardiovascular disease in elderly is significantly higher than in young subjects; paradoxically some treatments that have proven their efficacy in reducing cardiovascular risk are often under prescribed in this age group. The benefits of statins in secondary cardiovascular prevention are well established in patients <80 years. In primary prevention, these drugs reduce the risk of myocardial infarction and stroke, but their effects on cardiovascular mortality remain uncertain. In very elderly patients, there are no randomized trials relative to the impact of statins on morbi-mortality in primary prevention as well in secondary prevention. Adverse effects in the elderly seem to be statistically similar to those occurring in young people , but the prescription in very old people should be individualized, taking into account the life expectancy, the life quality, the comorbidities, and especially the risk of drug interactions.

Unrepaired persistent truncus arteriosus in a 38-year-old woman with an uneventful pregnancy.

Persistent truncus arteriosus (PTA) is a rare conotruncal defect, defined as a single arterial vessel arising from the heart, which gives origin to the systemic, pulmonary and coronary circulations. It has an extremely poor prognosis and carries a high mortality rate during the early years of life unless surgically repaired. A few known cases have been reported of patients reaching maturity, and exceptionally, patients suffering from this disease having lived into the fourth decade. The purpose of this report was to present a new case of PTA type 1, diagnosed by echocardiography and MRI, in a 41-year-old woman, with the peculiarity of long survival into adult life. She had also experienced a full-term pregnancy and delivery of a normal infant three years prior to her diagnosis. Pulmonary vascular disease made her condition inoperable but she was doing well with medical management after a follow up of 15 months. Based on this work, we concluded that pulmonary arterial hypertension is deleterious for life in some cardiovascular diseases, but in others, allows survival, as occurred in these patients with PTA. The patient's clinical course and anatomical findings are reported, along with factors that may have contributed to her longevity.

Clinical and Molecular Findings of Tunisian Patients with RASopathies.

Noonan syndrome (NS) and related disorders, which are now summarized under the term RASopathies, are caused by germline mutations in genes encoding protein components of the Ras/mitogen-activated protein kinase pathway. In this study, we evaluated the clinical and molecular spectrum of 21 Tunisian patients, recruited by a cardiology unit, for whom RASopathy diagnosis was suspected by clinical geneticists. Overall, 19 patients had a clinical diagnosis of NS and 2 were classified as having Cardiofaciocutaneous (CFC) syndrome. In 52% (n = 11) of patients, a RASopathy has been molecularly confirmed. Mutations in PTPN11 and SOS1 genes were found in patients with diagnosis of NS and BRAF gene mutations in patients with CFC syndrome. As reported from other cohorts, mutations in exons 3 and 8 of the PTPN11 gene predominated in Tunisian NS patients. A very uncommon PTPN11 mutation c.5C>T (p.T2I), the functional consequences of which have so far remained unclear, was identified in one patient. As biased by the mode of recruitment, all patients included in this study had a congenital heart defect, with pulmonary valve stenosis being the most frequent one. Short stature and developmental abnormalities were present in mutation-positive cases. This is the first molecular study in patients from southern Tunisia with RASopathy diagnosis.

Unique giant cardiac tumor in an infant: rhabdomyoma or fibroma?

We report a case of giant cardiac tumor diagnosed at fetal life and thought to be a fibroma. Six months later, a marked regression of the tumor size was observed. Diagnosis of rhabdomyoma was retrospectively made. Tuberous sclerosis was then suspected and MRI showed many signs of consistent diagnosis.

Congenital heart disease in 37,294 births in Tunisia: birth prevalence and mortality rate.

AIM: To investigate the previously unknown birth incidence, treatment, and mortality of children with congenital heart disease in Tunisia. METHODS: We undertook a retrospective review of medical records of all patients who were born in 2010 and 2011, and were diagnosed in Sfax (Tunisia) with congenital heart defect. RESULTS: Among 37,294 births, 255 children were detected to have congenital heart disease, yielding a birth incidence of 6.8 per 1000. The most frequently occurring conditions were ventricular septal defects (31%), ostium secundum atrial septal defects (12.9%), and pulmonary valve abnormalities (12%). Coarctation of the aorta, tetralogy of Fallot, univentricular physiology, pulmonary atresia with ventricular septal defect, and transposition of the great arteries were found in 4.3%, 6.2%, 3.4%, 2.7%, and 2.7%, respectively. During the follow-up of 1 year, 23% of the children died. About three-quarters of those deaths happened before surgery. CONCLUSION: The present study is in line with the general estimates in the world. It has revealed a high case of mortality among the patients awaiting corrective surgery. These children need more facilities.

Percutaneous closure of Ostium secundum atrial septal defect using amplatzer occlusion device.

AIM: To report our clinical experience with transcatheter closure of ostium secundum atrial septal defects (OS ASDs) using Amplatzer septal occluder. METHODS: It's a retrospective study conducted between October 2005 and April 2010 and involving 34 patients. The procedures were conducted in the hemodynamic laboratory under general anesthesia with transthoracic (TTE) and transoesophageal echocardiographic (TEE) monitoring. Clinical and echocardiography assessments of the patients were conducted within 24 hours post procedure and several months after the procedure. RESULTS: From the 34 patients, 28 (82%) were females. The middle age was 27.5 years. The mean ASD diameter was 19.4 mm by TTE; 18.1 mm [12-38] by TEE, and 23.4 by angiography. The average size of the implanted devices was 23.2 mm ranging from 10 to 34 mm.The final success rate of the procedure was 90.9% (30/33). One patient was excluded from transcatheter occlusion and three patients (8,6%) had complications including two prosthesis migrations and one large residual shunting. A total of 4 patients (11,7%) underwent surgery. No major complication (thromboembolic events, obstruction of intracardiac structures, cardiac perforation, device embolization and endocarditis) or death has occurred during follow-up and all devices were securely anchored without any persistent residual shunts. CONCLUSION: Compared to previous data of the literature, percutaneous closure of OS ASDs using Amplatzer device appears safe and effective according to our experience of the cardiology department of Hedi Chaker Hospital.

Midventricular Obstructive Hypertrophic Cardiomyopathy during Pregnancy Complicated by Pulmonary Embolism: A Case Report.

Hypertrophic cardiomyopathy (HCM) with midventricular obstruction (MVO) is a rare condition occurring in 1% of HCM patients. It is characterized by asymmetric left ventricular hypertrophy with MVO and elevated intraventricular pressure gradients. Pulmonary embolism has been associated with mid-ventricular obstructive HCM. Briefly, this case presents an unusual clinical scenario where a young pregnant woman suffering from hypertrophic obstructive cardiomyopathy presents with dyspnea hemodynamic compromise related to pulmonary embolism illustrating hemodynamic challenges created by pregnancy and surgery. We concluded that simple measures such as communication between the cardiology and obstetric teams, understanding of the hemodynamic changes, anesthetic planning, and monitoring were paramount for the success in our patient.

Myocardial infarction and normal coronary arteries: the experience of the cardiology department of Sfax, Tunisia.

OBJECTIVE: The purpose of the present study is to describe our experience with patients who have a transmural myocardial infarction (MI) in the presence of a normal coronary artery. The clinical profile, demographic characteristics and outcomes of these patients are discussed. METHODS: Between January 2006 and August 2011, 21 patients who presented with a Q-wave myocardial infarction were found to have normal coronary arteries. The prevalence rate of this entity was 1.5% (21 out of 1,400 Q wave MI patients). These patients were characterized by their young age (the mean age=44.95±14.86), male dominance (90.47%), and a high prevalence of smoking (85.71%). In this study, 4 patients have an evident spontaneous spasm shown on coronary angiography which disappeared after intracoronary injection of nitrates. Coagulation Disorders, such as activated protein C resistance (APC) resistance, protein C deficiency and antiphospholipid antibody syndrome were found in 4 of 12 patients who underwent systematic examination. One patient had a history of lung cancer which may be associated with a hypercoagulable state and may explain the occurrence of myocardial infarction with a normal coronary artery. The mean left ventricle ejection was 56. 5±12. The mean follow-up was 24±10 months. Six patients developed residual chest pain which was generally easily controlled by anti-spastic therapy and no patient had a major cardiovascular event. CONCLUSION: Patients with Q-wave MI and with normal coronary arteries seem to have a good short and long-term prognosis especially when they are treated with an exclusive medical strategy.