Asociación LACHT con hipoplasia de la vía aérea superior. Caso clínico

Gómez, Iván; Rodríguez, Diana Alejandra Ruiz; Carrero, María Rosalba Pardo

doi:10.4067/s0370-41062017000600781

Cited by 1 publication

(1 citation statement)

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“…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 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Transcatheter treatment of aortic coarctation in a 58-year-old patient with LACHT syndrome and left lung agenesis

Tu,

Huang,

Guo

et al. 2023

Front. Cardiovasc. Med.

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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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