Abstract:In 1673, the first case of lung agenesis was reported during an autopsy. Since then many more similar cases were reported and a classification of these cases developed for better medical management. Those cases ranged from hypoplasia to aplasia or agenesis of the lung tissue, with a survival rate of less than 50% by the age of 5 years in cases of agenesis. More commonly affecting the left side than the right, here we present a case of a late presentation of right lung agenesis in a young 24-year-old female. Wh… Show more
“…LACHT syndrome, or Mardini-Nyhan association, is an extremely rare disorder and is characterized by complex cardiac vascular malformations and skeletal abnormalities ( 2 , 3 ). Pulmonary agenesis is a rare congenital developmental defect and is classified into three types according to the complete or partial absence of the lung parenchyma, bronchus, and pulmonary artery ( 1 , 4 ). Nearly half of the cases of pulmonary agenesis are accompanied by other congenital abnormalities affecting various systems ( 2 ).…”
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.
“…LACHT syndrome, or Mardini-Nyhan association, is an extremely rare disorder and is characterized by complex cardiac vascular malformations and skeletal abnormalities ( 2 , 3 ). Pulmonary agenesis is a rare congenital developmental defect and is classified into three types according to the complete or partial absence of the lung parenchyma, bronchus, and pulmonary artery ( 1 , 4 ). Nearly half of the cases of pulmonary agenesis are accompanied by other congenital abnormalities affecting various systems ( 2 ).…”
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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