[CHARGE syndrome with tetralogy of Fallot: report of a case].
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SUBMITTER: Wahid FA
PROVIDER: S-EPMC4394000 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
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[CHARGE syndrome with tetralogy of Fallot: report of a case].
Wahid Fouad Amal FA Seghrouchni Aniss A Hatim Abdedaim Elghadbane AE Atmani Noureddine N Abdou Abdessamad A Bouzerda Abdelmajid A Mouram Sahar S Drissi Mohamed M Ait Houssa Mahdi M Boulahya Abdelatif A
The Pan African medical journal 20141126
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Project description:IntroductionMacrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and mental retardation. In addition to these cardinal signs, several other clinical conditions have been reported in people with this condition. However, to the best of our knowledge, the presence of tetralogy of Fallot has not previously been reported in association with this syndrome.Case presentationWe present a case of a Mexican newborn girl with tetralogy of Fallot associated with macrocephaly-capillary malformation. We discuss the clinical treatment of the patient and its consequences.ConclusionSince physiologic cutis marmorata is a common condition in newborns, the information provided in this report could be helpful in future cases in preventing severe clinical consequences or sudden death in patients with similar symptoms.
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Project description:Tetralogy of Fallot (TOF) is the most common congenital cyanotic heart disease and is characterized by an antero-superior deviation of the infundibular septum with a consequent large malaligned ventricular septal defect (VSD) and a pulmonary and sub-pulmonary (infundibular) stenosis. Surgical repair has been the cornerstone of treatment that is electively performed early in their lives between 3 and 6 months of age. With advancements in transcatheter interventions, the complete percutaneous repair of TOF, a complex disease with multiple treatable lesions, is becoming a conceivable possibility. Here, we report the case of total transcatheter correction of an 18-year-old boy with TOF, performed in two stages. The first stage involved addressing the right ventricular outflow tract (RVOT) obstruction with balloon pulmonary valvuloplasty (BPV) and occluding the conal artery using absolute alcohol and a coil. In the second stage, the VSD was closed with a Multifunctional Occluder (MFO) Konar device 14 -12 mm (Lifetech, China). While surgical treatment remains the gold standard for total correction of TOF, the transcatheter approach can also be considered for selected group of patients who are surgically turned-down.
| S-EPMC11657948 | biostudies-literature
Project description:We report a rare case of tetralogy of Fallot with dextrocardia and anomalous coronary artery. Although this is an unusual complex disease, we have successfully repaired it with a combination of transatrial/transpulmonary and trans-right ventricle techniques.
| S-EPMC7343333 | biostudies-literature
Project description:BackgroundTetralogy of Fallot (TOF) is one of the most widespread cyanotic congenital heart disease (CHD), which can be successfully repaired in the neonatal period. However, residual problems and the surgical technique itself can create a favourable basis for arrhythmias and conduction abnormalities in these patients. Sometimes, these arrhythmias may worsen during pregnancy and require urgent intervention.Case summaryThis is a case of a 25-year-old woman, who underwent a surgical repair of TOF at the age of 2 years. She suffered an ischaemic stroke postoperatively, which was complicated with secondary seizures and syncope. These episodes were evaluated as epilepsy. The patient was admitted to our hospital with the above-mentioned complaints in the 10th week of pregnancy. A comprehensive cardiac examination was performed. Her presyncopal event was captured during Holter monitoring, which documented a severe dysfunction of the sinus node. She was diagnosed with postoperative sick sinus syndrome and implanted with a permanent dual-chamber pacemaker (PM). After the operation, the patient did not have any episodes of syncope or seizures and the PM check-up showed almost 30% of atrial pacing.ConclusionNo matter how obvious the neurological or other nature of syncope may seem, it is advised to exclude the cardiac origin of syncope, especially in patients with repaired CHD. One of the most common complications after surgery of CHD is rhythm and conduction disturbances. In some of these cases, permanent PM implantation can be unavoidable, even during pregnancy. The implantation of the PM device during pregnancy can be performed safely.
| S-EPMC9161714 | biostudies-literature
Project description:BackgroundTetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. Although most infants nowadays undergo surgical repair approximately at the age of 6 months with excellent outcomes, older patients typically underwent a staged approach with an initial systemic-to-pulmonary Blalock-Taussig-Thomas (BTT) shunt reducing hypoxaemia, followed by surgical TOF repair at an older age (with takedown of the BTT shunt). Late complications related to the BTT shunt are rare.Case summaryWe report a case of recurrent haemoptysis late after classic BTT shunt and subsequent surgical TOF repair. Axial imaging indicated a stellate nodule with isotope accumulation in the right upper lung lobe, whereas bronchoscopy showed a rope-like structure in the bronchus to the right upper lung lobe. The patient underwent a lobectomy of the superior right lobe, with identification of what appeared to be the old suture around the BTT shunt. Anatomopathology confirmed diffuse necrotizing inflammation with erosion into the bronchus which eventually caused haemoptysis.DiscussionManagement of older patients with congenital heart disease requires a thorough knowledge of the anatomy and surgical history of the patient. Although late complications related to a BTT shunt are rare, a residual shunt, endocarditis, pseudoaneurysm, or chronic inflammation with haemoptysis may occur.
| S-EPMC8127029 | biostudies-literature
Project description:BackgroundTetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. It is generally diagnosed and surgically repaired early in life, with good overall outcomes.Case presentationWe report the case of a patient incidentally diagnosed with paucisymptomatic TOF at the age of 56 years old, during investigations for carbon monoxide poisoning. The patient had a history of thyroidectomy, arterial hypertension, and four uncomplicated vaginal deliveries.ConclusionsThis case shows us that some patients with TOF can reach older ages without surgical correction. Late surgical repair should be meticulously decided on a case basis.
| S-EPMC10219914 | biostudies-literature
Project description:IntroductionTetralogy of Fallot (TOF) is a congenital heart defect with characteristic features leading to unique physical exam and ultrasound findings. In settings where there is limited prenatal screening, TOF can present with cyanosis at any time from the neonatal period to adulthood depending on the degree of obstruction of the right ventricular outflow tract.Case reportThis case describes a pediatric patient who presented with undifferentiated dyspnea and cyanosis, for whom point-of-care ultrasound (POCUS) supported the diagnosis of TOF. We highlight the important role POCUS can play in a setting with limited access to formal echocardiography or consultative pediatric cardiology services.ConclusionThis report highlights the utility of POCUS as an inflection point in the diagnostic and management pathway of this patient, which is particularly important when working in a limited-resource or rural setting.
| S-EPMC9697878 | biostudies-literature
Project description: Not available
| S-EPMC10910697 | biostudies-literature
Project description:BackgroundAlthough the life expectancy of patients with tetralogy of Fallot (TOF) is comparable to that of the general population due to advancements in surgical intervention, if untreated, patients with TOF may die during their childhood. However, it has been anecdotally reported that a small number of patients with unrepaired TOF survived into their senescence.Case summaryA 71-year-old man with a history of multiple heart failure admissions was referred to our institute after successful cardiopulmonary arrest resuscitation. Transthoracic echocardiography showed the overriding of the aorta on a large ventricular septal defect and right ventricular hypertrophy, along with severe pulmonary stenosis (PS), all of which indicated unrepaired TOF. Computed tomography revealed a patent Blalock-Taussig shunt, which was constructed at the age of 19 years. Coronary angiography revealed multivessel coronary stenoses. Although radical intracardiac repair was not performed due to his multiple comorbidities, his heart failure symptoms were significantly improved owing to proper medication titration. One year following discharge, the patient was well and enjoyed playing golf.DiscussionSpecific anatomical, functional, and haemodynamic characteristics may be required for the long-term survival of patients with TOF. Pulmonary stenosis should be initially mild to guarantee pulmonary flow during childhood and adolescence, and gradual PS exacerbation should be paralleled with systemic-to-pulmonary collateral development or an extracardiac shunt. Moreover, reduced left ventricular compliance may act as a balancing factor against a right-to-left shunt. The presence of all of these special requirements may have contributed to the unusual survival for this patient.
| S-EPMC8759512 | biostudies-literature
Project description:BackgroundTetralogy of Fallot (TOF) is the most common congenital cyanotic cardiac lesion. Pulmonary vein stenosis occurs much less commonly and remains difficult to manage. It is exceedingly uncommon for a patient to have both lesions. This case highlights the diagnostic and management difficulties in an infant with these two lesions.Case summaryThe patient is a 4-month-old female infant with a history of TOF status post right ventricular outflow tract stent placement who presented after a hypoxaemic event at home to 40% SpO2. Computed tomography angiography demonstrated previously undiagnosed pulmonary vein stenosis of all four veins. She underwent multiple catheter-based palliations including balloon dilations and stent placements in each pulmonary vein in order to maximize her chances of successful definitive repair. She underwent successful repair of her TOF and pulmonary vein stenosis at ten months of age.DiscussionThe combination of TOF and pulmonary vein stenosis is not common, but when these lesions co-occur, they present a significant dilemma in determining the timing of surgery in order to optimize the odds of a successful outcome. This case demonstrates that serial catheter-based procedures can be valuable tools in minimizing pre-operative risk factors and highlights one strategy in determining timing of definitive surgical repair.
| S-EPMC8633749 | biostudies-literature