Rhabdomyomas are the most common perinatal cardiac tumors and are frequently associated with tuberous sclerosis complex (TSC). Although spontaneous regression is typical, severe cases may be life-threatening. Everolimus, an mTOR inhibitor, represents a therapeutic option in high-risk patients.A 28-year-old pregnant woman was referred for fetal cardiac evaluation at 34 weeks' gestation due to poor visualization on routine ultrasound. Fetal echocardiography revealed multiple rhabdomyomas, including a prominent subaortic mass causing severe left ventricular outflow tract (LVOT) obstruction. Ventricular function was preserved, with no arrhythmias or hydrops. Findings remained stable until delivery at 37 weeks. Postnatal echocardiography confirmed extensive infiltrative rhabdomyomatosis with critical LVOT obstruction (peak/mean gradients 110/59 mmHg). Cranial ultrasound demonstrated cortical tubers and subependymal nodules, consistent with TSC. Surgical intervention was not feasible, and everolimus was initiated within 24 h of life (0.1 mg/kg/day). Progressive improvement in LVOT obstruction was observed, with peak/mean gradients decreasing to 55/34 mmHg by day 10 and 19/9 mmHg by day 29. Genetic testing identified a pathogenic TSC2 variant. After six months of therapy, complete regression of all lesions was achieved, except for a small non-obstructive subaortic rhabdomyoma. Early neonatal everolimus effectively treated critical LVOT obstruction, highlighting the importance of prenatal diagnosis and prompt management.

Introduction: Acute myocardial infarction is a rare life-threatening event in children. Although more frequent in those with congenital heart disease and/or abnormal coronary anatomy, it can occur in otherwise healthy children. Case report: We present the case of a previously healthy seven-year-old boy evaluated because of chest pain. An ECG revealed major repolarization abnormalities in the inferior and left precordial leads and an echocardiogram showed mild global left ventriclar dysfunction and a dyskinetic apical interventricular septum. Laboratory testing showed an isolated, but significant, elevation of cardiac markers. He underwent cardiac catheterization that confirmed an occlusion of the distal segment of the left descending artery. Cardiovascular magnetic resonance findings indicated a recent transmural infarction of the apical septal segment. Discussion: Despite being an uncommon entity in the pediatric population, myocardial ischemia and infarction can be the reason behind plain chest pain. The diagnosis warrants a high index of suspicion and should prompt meticulous cardiac testing.

Persistent crying in infants includes a wide range of differential diagnosis,frombenign causes to life-threatening situations. Anomalous Left Coronary Artery from Pulmonary Artery (ALCAPA) Syndromeisa rare congenital heart disease that presents as ischemia or heart failure in the first months of life and prompts urgentsurgical treatment. A five-weeks-old infant was taken to the emergency department due to inconsolable crying. Physical examination revealed a mitral systolic murmur. Chest X-ray evidenced cardiomegaly. Electrocardiogram and laboratory exams suggested myocardial ischemia. On echocardiogram he presented dilated left chambers, left ventricular dysfunction, and mitral regurgitation. An aortography was performed showing uncertain origin of theleft coronary artery. A computed tomography angiography confirmed the diagnosis and reimplantation surgery was performed with favorable outcome. Although rare, ALCAPA can result in acute myocardial infarction and sudden death. A high rate of clinical suspicion and a thorough examination are key to diagnosis, treatment and prognosis.

AIMS: Orofacial clefts (OFC) are a heterogeneous group of birth defects arising in about 1.7/1000 newborns. They can occur with other congenital anomalies, including heart defects. We aim to describe a population with orofacial clefts and associated cardiac anomalies.METHODS: Retrospective study of patients attended in the Cleft Lip and Palate Multidisciplinary Group outpatient clinic at Hospital Universitario São João, Porto-Portugal. Medical records from January 1992 through December 2018 were reviewed. Patients were divided into four groups according to the Spina classification: cleft lip (CL), cleft lip and palate (CLP), isolated cleft palate (CP) and atypical cleft (AC). Further categorization included gender, affected relatives, associated congenital anomalies and syndromes.RESULTS: From the 588 patients included, 77 (13%) presented cardiac anomalies. Of those with orofacial cleft and cardiac anomalies, 53% were males and 17% had known affected relatives. CP was the most common cleft among patients with cardiac anomaly (~56%). Additional congenital anomalies were found in 89.7% of patients, namely facial defects, central nervous system, renal and skeletal malformations. A recognizable syndrome was identified in 61.5%, being Pierre-Robin the most common (n=22), followed by 22q11.2 microdeletion (n=9). Both additional congenital anomalies and recognizable syndromes were significantly more prevalent in patients with heart disease (p<0.05). The main groups of cardiac anomalies were left-to-right shunt (n=47) and right ventricular outflow tract obstruction (n=14). From these, 26 had a ventricular septal defect, 15 atrial septal defect and seven patients had tetralogy of Fallot. Five patients had dysrhythmias.CONCLUSIONS: Due to the high prevalence of cardiac anomalies in the cleft population, a routine cardiac evaluation should be performed in all these patients.

ALCAPA syndrome is a rare congenital heart disease and a cause of myocardial ischemia in pediatric population. The authors present the case of a 10-year-old girl admitted to the emergency room after experiencing cardiac arrest at school. In the echocardiogram, the inability to identify the origin of the left coronary artery raised the hypothesis of abnormal origin of the left coronary artery from the pulmonary artery (ALCAPA). A CT-scan and a cardiac catheterization were performed confirming the diagnosis. Infants with the syndrome may have myocardial infarction and congestive heart failure . She successfully underwent cardiac surgery. Most undiagnosed patients die within the first year of life, and it is necessary to develop an extensive network of collaterals to ensure survival. ALCAPA syndrome rarely manifests in late childhood, teenagers, and adults and may be an important cause of sudden cardiac arrest.

Nos últimos anos, tem sido crescente o reconhecimento das causas genéticas das doenças cardiovasculares resultado dos significativos progressos das técnicas laboratoriais. Este conhecimento tem permitido a identificação de «novos» fenótipos e a subclassificação das síndromes clínicas, tendo impacto nas decisões terapêuticas e no aconselhamento genético que é facultado às famílias.

In recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes the state of the art of genetic testing in the main cardiovascular diseases, aiming to provide a useful tool to help cardiologists and other health professionals involved in the care of individuals with hereditary heart diseases and their families. (C) 2020 Sociedade Portuguesa de Cardiologia. Published by Elsevier Espana, S.L.U.

Background Vena cava anomalies are rare congenital defects due to incorrect development during fetal life, ranging from minor asymptomatic anatomic variations to complex life-threatening abnormalities. Echocardiography plays a fundamental role in the diagnosis, with advanced imaging techniques allowing detailed anatomic delineation. Invasive cardiology techniques are a promising therapeutic approach, but surgery is probably the best option when diffuse compromise of the systemic veins is present. Case Report An 8-month-old infant presenting episodes of labial cyanosis and a failure to thrive was diagnosed with severe superior vena cava (SVC) stenosis at the right atrium ostium, with decompression via azygos vein and mild inferior vena cava (IVC) stenosis. The patient was referred for surgery, with IVC enlargement and removal of a fibromuscular tissue band on the anterior aspect of the SVC ostium. At a 6-month follow-up, the patient is asymptomatic, with excellent surgical outcome. To the authors' knowledge, only two cases of congenital SVC stenosis have been previously described.

A 2-month-old infant with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries developed an aneurysmatic elongation of the tricuspid valve tissue that partially closed and dynamically protruded through the ventricular septal defect, beneath the aortic valve. This rare finding caused dynamic left ventricle outflow tract obstruction and recurrent cardiac arrests and ultimately required surgical intervention.

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Please cite this article as: Abreu-Ferreira J, Pereira S, Sarmento J, Granja S, Madureira AJ, Baptista MJ. Cardiopatia congénita complexa com ausência de artérias pulmonares. Rev Port Cardiol. 2018;37:949--950. ∗ Corresponding author. E-mail address: jorgeabreuferreira@gmail.com (J. Abreu-Ferreira). to possible surgery. Physical examination revealed central cyanosis with digital clubbing; oxygen saturation was 30--50% on pulse oximetry and pulmonary auscultation showed no murmur and normal pulses. The echocardiogram revealed complex cyanotic heart disease including transposition of the great arteries (TGA), pulmonary atresia, a large interventricular communication and systemic-pulmonary collateral arteries. No pulmonary arteries were visible but there was a persistent left superior vena cava with dilated coronary sinus (Figure 1). Cardiac catheterization confirmed the existence of collaterals originating from the supra-aortic trunks, the

Introducao: A Doenca de Kawasaki (DK) e uma vasculite sistemica, de etiologia desconhecida e constitui, nos paises desenvolvidos, a principal causa de cardiopatia adquirida em idade pediatrica. E rara antes dos seis meses e as principais complicacoes resultam do aparecimento de ectasia ou aneurismas das arterias coronarias, podendo evoluir para doenca coronaria isquemica. Caso clinico: Apresenta-se o caso clinico de um lactente de dois meses com diagnostico, ao oitavo dia de febre, de DK incompleta, refrataria ao tratamento com a primeira dose de imunoglobulina e acido acetilsalicilico. A avaliacao ecocardiografica realizada, na fase aguda, demonstrou ectasia difusa das arterias coronarias e hiperecogenicidade perivascular. Foi efetuado tratamento com a segunda dose de imunoglobulina e acido acetilsalicilico, com evolucao clinica favoravel. Conclusao: Com este caso clinico pretende-se alertar para a importância do diagnostico e tratamento atempados, assim como para o seguimento da DK, salientando-se a potencial gravidade das complicacoes cardiovasculares na idade pediatrica.

Introducao: A Doenca de Kawasaki (DK) e uma vasculite sistemica, de etiologia desconhecida e constitui, nos paises desenvolvidos, a principal causa de cardiopatia adquirida em idade pediatrica. E rara antes dos seis meses e as principais complicacoes resultam do aparecimento de ectasia ou aneurismas das arterias coronarias, podendo evoluir para doenca coronaria isquemica. Caso clinico: Apresenta-se o caso clinico de um lactente de dois meses com diagnostico, ao oitavo dia de febre, de DK incompleta, refrataria ao tratamento com a primeira dose de imunoglobulina e acido acetilsalicilico. A avaliacao ecocardiografica realizada, na fase aguda, demonstrou ectasia difusa das arterias coronarias e hiperecogenicidade perivascular. Foi efetuado tratamento com a segunda dose de imunoglobulina e acido acetilsalicilico, com evolucao clinica favoravel. Conclusao: Com este caso clinico pretende-se alertar para a importância do diagnostico e tratamento atempados, assim como para o seguimento da DK, salientando-se a potencial gravidade das complicacoes cardiovasculares na idade pediatrica.

CONTEXT: Sydenham's chorea affects almost 30% of patients with acute rheumatic fever. It is more frequent in females and is rare in the first decade of life, and genetic vulnerability underlies it. Because of easy access to antibiotics, it is now rare in so-called developed countries. CASE REPORT: A 6-year-old boy with a family history of Huntington's disease, who was the only child of an unscreened and asymptomatic mother, was brought for a consultation because of migratory arthralgia, depressed mood, and rapid, abrupt and unintentional movements of his right arm and leg, that had evolved over a three-week period. On physical examination, he presented a grade III/VI systolic heart murmur and right-side choreic movements, giving rise to a deficit of active mobilization. Laboratory tests revealed elevated erythrocyte sedimentation rate (63 mm/h), C-reactive protein (25 mg/l) and antistreptolysin O titer (1,824 U/ml). Cardiovascular evaluation showed mild aortic insufficiency, moderate mitral insufficiency and a prolonged PR interval. A clinical diagnosis of Sydenham's chorea/acute rheumatic fever was made, and therapy consisting of penicillin, haloperidol, captopril and furosemide was instituted, with excellent results. CONCLUSION: In developed countries, Sydenham's chorea seems forgotten and, because of this, little is known about its clinical course and controversy surrounds the therapeutic options available. This occurrence of rheumatic chorea in a family with Huntington's disease highlights the importance of the differential diagnosis for the different forms of chorea.