Marfan syndrome is a genetic disorder that affects the connective tissue. Many conditions share features with Marfan syndrome, and they are referred to as heritable thoracic aortic diseases. Recent advances in genetic analysis have revealed many genes associated with these disorders, indicating the importance of genetic testing in diagnosis and severity classification. Marfan syndrome is a multisystem disorder that progresses over a lifetime and requires lifelong follow-up with a team of specialists in genetic medicine, cardiology, ophthalmology, orthopedics, thoracic surgery, and obstetrics. Additionally, the symptoms to watch for vary with age. The evaluation and treatment of aortic root dilation are particularly important, and follow-up should be based on the medical and surgical treatment options. Moreover, management should focus on the patients’ transition from childhood to adulthood, including an understanding of pregnancy risk.

Prenatal diagnosis of fetal heart disease by fetal echocardiography has so far focused on morphological assessment. However, more knowledge on fetal cardiac function has been accumulated recently, and the guidelines for fetal echocardiography now describe the assessment of fetal cardiac function. Conversely, the assessment of fetal cardiac function, such as that used in transthoracic echocardiography, is not always possible for the following reasons: the fetal circulation differs from the neonate’s circulation after birth; the small fetal heart must be observed through the maternal abdominal wall, which limits the image quality; the fetal position is not constant; a constant cross-sectional view cannot always be obtained; and electrocardiograms cannot usually be used on fetuses. The present review article outlines the fetal cardiac functional assessment currently used in fetal echocardiography, including the assessment of central venous pressure, ventricular contractility, ventricular diastolic and integrated ventricular functions, prognostic value of fetal heart failure, and cardiac functional assessment using new techniques, such as speckle tracking echocardiography and three-dimensional echocardiography.

Echocardiography is a powerful diagnostic tool that can provide real-time cardiac evaluation. This modality can be used at anytime and anywhere, from the bedside to the operating room. Treatment decisions frequently rely on the results of echocardiographic evaluations, because, inaccurate results may lead in the wrong direction. Recently, methods for not only morphological diagnosis but also functional analysis have been established. Although these indicators are also used in children, the features of pediatric echocardiography include the changes in normal values due to growth and a wide spectrum of cardiac anatomy. This study provides an overview of pediatric echocardiography from a daily clinical perspective.

Magnetic resonance angiography (MRA) is a noninvasive technique utilizing the MR phenomenon to evaluate cardiovascular morphology without exposing the patient to radiation and requiring contrast media. However, MRA has a long acquisition time, poor spatial resolution, and multiple imaging methods, making it difficult to determine the appropriate type of MRA to use. In this review, the principles and applications of typical MRA imaging methods are described, followed by a discussion of which type of MRA to choose. MR lymphangiography (MRL) is a technique that uses the MR phenomenon to evaluate the morphology of lymphatic vessels. MRL has two types, including non-contrast MRL (NCMRL), which allows for static evaluation without using contrast media, and dynamic contrast-enhanced MRL (DCMRL), which allows for dynamic evaluation with the use of contrast media. The present article also explains the characteristics and applications of both MRL types and discusses the issue of deciding when to use each type.

Background: Hiatal hernia (HH) in patients with heterotaxy syndrome can potentially affect the circulation of a single ventricle. The indications for HH repair have not been clearly established in this cohort.

Methods: We conducted a comprehensive review of the clinical course, encompassing HH complications and repairs, of 109 patients diagnosed with heterotaxy syndrome and a single ventricle. Neonates treated at our hospital from January 2008 to December 2018 were enrolled in the present study.

Results: Among the cohort, 13 patients (12％) had HH, with 6 patients undergoing subsequent HH repair. Four patients exhibited pulmonary venous compression by a herniated stomach, all of whom presented with a herniation positioned between the atrium and vertebrae, impacting the pulmonary veins from behind. Three patients underwent surgery with postoperative duodenal stenosis, and one patient died in the perioperative period of HH surgery. Among the 7 patients who did not undergo HH surgery, 4 patients successfully completed the Fontan procedure and remained asymptomatic during follow-up (median, 104.5 months; range, 100–112 months).

Conclusion: The surgical indications for HH repair in patients with a single ventricle should be determined according to their characteristic symptoms and postoperative course.

The Avalon Elite^® bi-caval dual lumen catheter (Avalon DLC) enables veno-venous extracorporeal membrane oxygenation (V-V ECMO) with a single cannula. There are no reports of using this catheter in infants with congenital heart disease in Japan. We report a 3-month-old boy who weighed 3.5 kg and was diagnosed with Cantrell syndrome, tetralogy of Fallot, and persistent left superior vena cava. He underwent multistage abdominal wall closure, diaphragmatic suture, and tracheostomy for omphalocele, diaphragmatic hernia, and tracheomalacia. At 3 months of age, hypoxemia appeared and cardiac magnetic resonance imaging showed low pulmonary blood flow with a Qp/Qs ratio of 0.4, indicating the need for Blalock–Taussig shunt surgery. There was concern regarding postoperative mediastinitis because of the proximity of the abdominal wound and tracheostomy site to the sternum. Therefore, a left-sided thoracotomy was planned instead of a median sternotomy. However, compression of the lung on the operative side was expected to further worsen oxygenation, and we planned to introduce V-V ECMO before surgery. The right internal jugular vein was the only site where a cannula could be inserted percutaneously owing to the anatomical characteristics of the vessels. A 13 Fr Avalon DLC was inserted through the right internal jugular vein, and V-V ECMO was used to achieve good oxygenation. The Avalon DLC may be useful in infants with congenital heart disease and multiple malformations who require ECMO.

A mobile medical unit is a container used to transport critically injured and ill patients. It is operated by the Aero Medical Evacuation Squadron of the Japan Air Self-Defense Force. Unlike normal air transport, its activation requires a request for disaster relief by the prefectural governor. The EXCOR^® Pediatric is an extracorporeal ventricular assist device for use in pediatric patients with severe heart failure, and air transport is a useful tool in such patients, as they require quick transport. However, at present, medical jets for the domestic inter-facility transport of patients with EXCOR^® are lacking in Japan, and the mobile medical unit used in the present study is the only means available. There are also other issues related to patient transport, such as the time required from planning to the implementation of transport.