Left atrial septal pouch in a six-year-old child: echocardiographic and magnetic resonance view

In a 6-year-old child patient, transthoracic echocardiography revealed a large saccular structure (with anechogenic content) in the left atrium, near the fossa ovalis, and diagnosis of the left atrial septal pouch was made. The left atrial septal pouch is a kangaroo pouch-like structure on the left side of the interatrial septum, opened into the left atrial cavity without a connection between the left and right atria. It occurs when the foramen ovale is absent but the septum primum and septum secundum are only partially fused. The left atrial septal pouch is believed to be present in 47% of population. In many cases, the pocket on the atrial septum is small and it could not be detected by transthoracic echocardiography. Our description is uncommon because we diagnosed a very large septal pouch. Based on our knowledge, this is the youngest reported case of the left atrial septal pouch and the longest follow-up described in this type of congenital heart malformation.

Anomalous Origin of Left Pulmonary Artery From Ascending Aorta: Embryological Model

Background Anomalous origin of the left pulmonary artery (ALPA) from the ascending aorta (AA) is a rare congenital heart malformation. Aim To give some of our embryological considerations of ALPA from the AA. Methods We present a patient with ALPA from the AA, right-sided aortic arch, right-sided ductus arteriosus (DA), and aberrant left subclavian artery (LSCA). Results The distal end of ALPA was cut off, the proximal end was sutured, and the distal end was directly anastomosed to the left wall of the main pulmonary artery (MPA). Conclusion The failure of migration and differentiation of cardiac neural crest cells at the fourth and sixth archs result in unilateral arch agenesis or failure of detachment of the left sixth arch from the aortic sac, which form ALPA the AA.

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances

Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2. PTLS is characterized by hypotonia, failure to thrive, congenital anomalies (particularly of the cardiovascular system), intellectual disability, and behavioural disturbances. The patient was a full-term baby girl, 2,750 grams at birth, delivered via an uncomplicated vaginal delivery with pronounced hypotonia at birth. Nevertheless, there was failure to thrive (weight 7.6 kg; 2.8 SD). Micrognathia, epicanthal skin folds, and megalocornea were noticeable. There was a harsh continuous systolic murmur, and the ultrasound of the heart revealed a persistent arteriosus duct which was surgically closed. At the age of 18 months, the girl could not sit without support, and she could not utter simple words. The girl is often moody, angry, and aggressive. She is hyperactive and unable to establish contacts with family members. A 17p12-p11.2 microduplication was identified via MLPA. Muscle hypotonia, congenital heart malformation, failure to thrive, developmental delay, behavioural disturbances (or autism spectrum disorder), and intellectual disability are early signs of PTLS. The presence of PTLS was proven by an MLPA analysis.

Levetiracetam, lamotrigine and carbamazepine: which monotherapy during pregnancy?

Objective Epilepsy treatment during pregnancy is still challenging. The study is aimed at comparing the efficacy and safety of carbamazepine (CBZ), lamotrigine (LTG) and levetiracetam (LEV) monotherapies during pregnancy in women with focal (FE) or generalized (GE) epilepsy. Methods A multicentre retrospective study was conducted to evaluate seizures frequency and seizure freedom (SF) rate during 3 months before pregnancy, each trimester of gestation and post-partum period in women on monotherapy with CBZ, LTG and LEV. Results Fifty-seven pregnancies (45 FE, 12 GE) on monotherapy (29 CBZ, 11 LTG, 17 LEV) were included. A significant reduction of seizure frequency was found in the first trimester of pregnancy as compared with that one before pregnancy (p = 0.004), more evident in GE (p = 0.003) and in LEV group (p = 0.004). The SF rate significantly increased in the first trimester in comparison to that one before pregnancy and persisted in the post-partum period in the whole sample (p < 0.001) and in women on LEV (p = 0.004). Besides, 88.57% of SF women before pregnancy remained unchanged during gestation and the post-partum period. One major heart malformation in CBZ and no major malformations in LTG and LEV groups were found. Conclusions A better clinical outcome during pregnancy emerged since the first trimester in comparison to the before-pregnancy period, mostly evident in women with GE and LEV therapy, reinforcing the hypothesis of a protective role of pregnancy versus seizures. SF before pregnancy represents a significant predictive factor of good clinical outcome during gestation and the post-partum period. Compared to CBZ, LTG and LEV showed a better safety profile.

Surgical repair of left-sided partial anomalous pulmonary venous connection associated with situs inversus totalis

Situs inversus totalis associated with partial anomalous pulmonary venous connection is a very rare congenital heart malformation. Herein, we describe successful surgical repair of the case of a 30-month-old girl who had situs inversus totalis, partial anomalous pulmonary venous connection , large atrial septal defect, and severe pulmonary hypertension.

Who is who in cardiovascular research? What a review of Nobel Prize nominations reveals about scientific trends

Background Since 1901, at least 15 scholars who contributed to cardiovascular research have reveiced a Nobel prize in physiology or medicine. Methods Using the Nobel nomination database (nobelprize.org), which contains 5950 nominations in the accessible period from 1901 to 1953 in physiology or medicine, we listed all international nominees who contributed to cardiovascular research. We subsequently collected nomination letters and jury reports of the prime candidates from the archive of the Nobel Committee in Sweden to identify shortlisted candidates. Results The five most frequently nominated researchers with cardiovascular connections from 1901 to 1953 were, in descending order, the surgeon René Leriche (1879–1955) (FR) with a total of 79 nominations, the physiologist and 1924 Nobel laureate Willem Einthoven (1860–1927) (NL) (31 nominations), the surgeon Alfred Blalock (1899–1964) (US) (29 nominations), the pharmacologist and 1936 Nobel laureate Otto Loewi (1873–1961) (DE, AT, US) (27 nominations) and the paediatric cardiologist Helen Taussig (1898–1986) (US) (24 nominations). The research of these scholars merely hints at the width of topics brought up by nominators ranging from the physiological and pathological basics to the diagnosis and (surgical) interventions of diseases such as heart malformation or hypertension. Conclusion We argue that an analysis of Nobel Prize nominations can reconstruct important scientific trends within cardiovascular research during the first half of the twentieth century.

Automatic recognition of murmurs of ventricular septal defect using convolutional recurrent neural networks with temporal attentive pooling

Recognizing specific heart sound patterns is important for the diagnosis of structural heart diseases. However, the correct recognition of heart murmur depends largely on clinical experience. Accurately identifying abnormal heart sound patterns is challenging for young and inexperienced clinicians. This study is aimed at the development of a novel algorithm that can automatically recognize systolic murmurs in patients with ventricular septal defects (VSDs). Heart sounds from 51 subjects with VSDs and 25 subjects without a significant heart malformation were obtained in this study. Subsequently, the soundtracks were divided into different training and testing sets to establish the recognition system and evaluate the performance. The automatic murmur recognition system was based on a novel temporal attentive pooling-convolutional recurrent neural network (TAP-CRNN) model. On analyzing the performance using the test data that comprised 178 VSD heart sounds and 60 normal heart sounds, a sensitivity rate of 96.0% was obtained along with a specificity of 96.7%. When analyzing the heart sounds recorded in the second aortic and tricuspid areas, both the sensitivity and specificity were 100%. We demonstrated that the proposed TAP-CRNN system can accurately recognize the systolic murmurs of VSD patients, showing promising potential for the development of software for classifying the heart murmurs of several other structural heart diseases.