LACHT (Lung Agenesis, Congenital Heart, and Thumb anomalies) syndrome is an extremely rare congenital anomaly and presents significant challenges in adults due to its poor survival rates. Herein, we report a case of late diagnosis and successful transcatheter treatment of aortic coarctation in a 58-year-old male patient with LACHT syndrome, medically resistant arterial hypertension, and left lung agenesis. Baseline CT angiography showed isthmic aortic coarctation and left lung agenesis, with compensatory right pulmonary artery and vein thickenings. The patient underwent balloon dilation and subsequent implantation of a covered NuMED 45 mm 8-ZIG CP stent with satisfactory outcomes. The pressure gradient decreased from 43 to 23 mmHg. The arterial pressures normalized during the follow-up with fewer medications. Genetic testing identified a heterozygous mutation (c.6583C > T) in the FBN2, supporting the diagnosis of variant Marfan syndrome.
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http://dx.doi.org/10.3389/fcvm.2023.1239624 | DOI Listing |
BMJ Case Rep
November 2024
Radiology, Narayana Hrudayalaya Health City Bangalore, Bengaluru, Karnataka, India
Indian J Psychol Med
May 2024
Dept. of Pediatrics, All India Institute of Medical Sciences, Bibinagar (Hyderabad Metropolitan Region), Bibinagar, Telangana, India.
Pediatr Surg Int
October 2024
Developmental and Stem Cell Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada.
Purpose: Amniotic fluid stem cell extracellular vesicles (AFSC-EVs) hold regenerative potential to treat hypoplastic lungs secondary to congenital diaphragmatic hernia (CDH). This study aims to investigate sex-specific differences in pulmonary hypoplasia severity and responses to AFSC-EV administration in an experimental CDH mouse model.
Methods: C57BL/6J dams were fed with nitrofen + bisdiamine (left-sided CDH) or olive oil only (control) at embryonic day (E) 8.
J Med Ultrasound
November 2023
Department of Obstetrics and Gynecology, University of Zulia, Maracaibo, Venezuela.
Pulmonary agenesis (PA) is a rare developmental malformation, with a frequency of approximately 1 in 10-15,000 pregnancies. Unilateral PA is often associated with other congenital anomalies, whereas bilateral PA is fatal. Prenatal diagnosis is rare and is diagnosed more frequently in the postnatal period than in the prenatal period.
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November 2024
Radiology Unit, "Santobono-Pausilipon" Children's Hospital, Naples, Italy.
The omphalocele is an abdominal wall defect at the base of the umbilical cord, with the worldwide prevalence of 2.6 per 10,000 births. Omphalocele contains herniated abdominal organs and is classified in small and giant based on the size of the defect.
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