BACKGROUND: A peculiar subgroup of patients with partial or complete atrioventricular canal defect exhibits a spectrum of left-sided obstructions including right ventricular dominance and aortic coarctation. The association of atrioventricular canal defect with left-sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co-occurrence of multiple variants has also been hypothesized.
METHODS: We describe a nonsyndromic infant with mesocardia with viscero-atrial situs solitus, partial atrioventricular canal defect, mild right ventricular dominance, and coarctation of the aorta. Next generation sequencing genetic testing revealed variants in two genes, GDF1 and NOTCH1, previously reported in association with atrioventricular canal defect and left-sided obstructive lesions, respectively.
CONCLUSIONS: The present report could support the hypothesis that the co-occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects.

OBJECTIVE: Dihydropyrimidinase deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway, with fewer than 40 patients published. Clinical findings are variable and some patients may remain asymptomatic. Global developmental delay and increased susceptibility to 5-fluorouracil are commonly reported. Here we present atrioventricular septal defect as a novel feature in dihydropyrimidinase deficiency.
METHODS: A four-year-old male with global developmental delay, dysmorphic facies, autistic features and a history of seizures was diagnosed with dihydropyrimidinase deficiency based on strikingly elevated urinary dihydrouracil and dihydrothymine and a homozygous pathogenic nonsense variant in DPYS gene. He had a history of complete atrioventricular septal defect corrected surgically in infancy.
CONCLUSIONS: This is the second report of congenital heart disease in dihydropyrimidinase deficiency, following a single patient with a ventricular septal defect. The rarity of the disease and the variability of the reported findings make it difficult to describe a disease-specific clinical phenotype. The mechanism of neurological and other systemic findings is unclear. Dihydropyrimidinase deficiency should be considered in patients with microcephaly, developmental delay, epilepsy and autistic traits. We suggest that congenital heart disease may also be a rare phenotypic feature.

Elderly patients with multiple comorbidities often face complex cardiac challenges, including aortic valve issues and atrial septal defects. Traditional open-heart surgery may not be viable for this demographic. Transcatheter aortic valve implantation (TAVI) emerges as a preferred alternative. In this case, a frail patient with multiple comorbidities, atrial septal defect, and significant aortic stenosis and regurgitation underwent a one-stop procedure, combining TAVI and atrial septal defect closure, guided by advanced imaging, including three-dimensional ultrasound. Ultrasound played a pivotal role in the perioperative phase, offering precise screening and guidance. This innovative technique, minimizing surgical trauma and recovery time, significantly improved the patient\'s quality of life.

BACKGROUND: Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition that affects the eyes, face, heart, and teeth of patients. One notable dental characteristic of OFCD is radiculomegaly, or root gigantism, which highlights the role of dentists in detecting this syndrome. OFCD is an X-linked dominant syndrome that results from a variant in the BCOR gene. Our study presents the first documented case of OFCD in Vietnam and reports a novel BCOR gene variant observed in this case.
METHODS: A 19-year-old Vietnamese female patient with an extremely long root with an abscess was clinically examined for the expression of OFCDs. The radiograph and the variant in BCOR gene were also evaluated. We identified abnormalities in the teeth, as well as ocular, facial, and cardiac features, with radiculomegaly of the canines being a specific symptom for OFCDs. The patient\'s genetic analysis revealed a pathogenic heterozygous deletion at intron 11 of the BCOR gene, representing a novel variant.
CONCLUSIONS: Oculo-facio-cardio-dental syndrome (OFCD) is an extremely rare condition characterized by abnormalities in the eyes, face, heart, and teeth, often caused by variants in the BCOR gene. Radiculomegaly, or enlarged dental roots, is a key diagnostic feature of OFCD, and early detection is crucial for preventing future dental complications.

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Percutaneous closure of atrial septal defects (ASDs) has emerged as an alternative to surgical treatment; however, several early and late complications have been reported. In this report, we present the case of a patient who underwent surgical removal of a migrated \'Figulla Flex II\' ASD occlusion device at the aortic bifurcation 2 months after ASD occlusion.

Oculo-facio-cardio-dental syndrome is a rare X-linked dominant syndrome, characterized by radiculomegaly, congenital cataracts, dysmorphic facial features, and congenital heart disease. Because of the rarity, this syndrome could be misdiagnosed by the clinician, especially for the infant who may present only one to two systems involved.
Here we report a 3-month-old female infant presenting with typical clinical manifestations of oculo-facio-cardio-dental syndrome, like ocular, facial, cardiac, and skeletal abnormalities, and the genetic analyses of the proband and her parents were provided. Genetic evaluations were completed using whole exon sequencing, which revealed a novel heterozygous mutation between exons 7 and 14 of the BCOR gene(OMIM:300485) in this patient but not in her parents. This mutation is likely to encode a premature stop codon producing a truncated protein. Our patient was diagnosed early enough to allow for the cardiac defects to be treated first, and she will be closely followed up to ensure that any new presentations are treated in a timeous manner.
This patient fits the diagnostic criteria for oculo-facio-cardio-dental syndrome and is the youngest oculo-facio-cardio-dental syndrome patient ever reported, which is most important for her prognosis. In addition, this manuscript also describes a novel potenitally causative mutation for this syndrome.

BACKGROUND: Anomalies of the systemic venous return to the heart are infrequent, occurring more often in patients with congenital heart disease.
METHODS: We present a patient with heterotaxy, univentricular circulation, and hemiazygos return who underwent a Kawashima procedure at 3 years of age. Fourteen years later, she developed increased cyanosis and tiredness. The symptoms clearly improved after an off-pump derivation of the hepatic drainage from the common atrium to the hemiazygos system.
CONCLUSIONS: This rare case report addresses the surgical challenges imposed by patients with complex congenital heart disease combined with anomalies in systemic venous return. Although improvement in arterial oxygenation after redirecting hepatic flow to the hemiazygos system in patients previously submitted to a Kawashima procedure has already been reported, the existence of a hepatic factor remains to be recognized.

BACKGROUND: Intermediate type atrioventricular septal defect is less frequent than complete or partial atrioventricular septal defect, and is rarely encountered in the elderly and the utility of three dimensional transesophageal echocardiography in the diagnosis has not been reported to date.
METHODS: In this case report, we described a rare case of an intermediate atrioventricular septal defect in an adult patient and we showed the valuable utility of real time 3D transesophageal echocardiography in the diagnosis and future surgical planning. The patient was referred to a tertiary center for an elective surgical repair. Finally, we provided a detailed review of the literature concerning the intermediate type of atrioventricular septal defect.
CONCLUSIONS: Although 2D transthoracic and transesophageal echocardiography enables diagnosis of the intermediate type atrioventricular septal defect, precise assessment of anatomy of atrioventricular septal defects and common atrioventricular valve was enabled only by real time 3D echocardiography.

BACKGROUND: Atrioventricular canal defect is a rare congenital disorder of the heart and describes the presence of an atrial septal defect, a variable presentation of ventricular septal alterations including ventricular septal defect malformations in the mitral and tricuspid valves. The defect has been described in human beings, dogs, cats, pigs, and horses.
METHODS: This paper describes the case of a complete atrioventricular canal defect in a four-year-old intact male pet ferret (Mustela putorius furo), which was presented due to posterior weakness, ataxia, and decreased appetite. A loud systolic murmur, dyspnea, and hind limb paraparesis were detected during the clinical examination. Thoracic radiographs showed generalized cardiomegaly and lung edema. ECG showed sinus rhythm with prolonged P waves and QRS complexes. Echocardiography showed a large atrial septal defect, atrioventricular dysplasia, and a ventricular septal defect. Palliative treatment with oxygen, furosemide, spironolactone, enalapril, diltiazem, and supportive care was chosen as the therapy of choice. The ferret recovered gradually during hospitalization. A follow-up examination at three and six months showed stabilization of cardiac function.
CONCLUSIONS: To the authors knowledge, this is the first time an atrioventricular canal defect has been described in a pet ferret.