Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

Central conducting lymphatic anomaly: from bench to bedside

“…Evaluation of central lymphatic flow patterns demonstrated distinct features in individuals with various genetic disorders, such as RASopathies, Down syndrome (trisomy of chromosome 21), and PIEZO1 generalized lymphatic dysplasia ( Figure 2, B–D ). RASopathies, which include Noonan syndrome, tend to have abnormalities of the thoracic duct and intercostal flow ( 61 , 79 – 81 ). Individuals with Down syndrome have dilation of the lymphatics of the head and neck ( 61 ).…”

“…RASopathies, which include Noonan syndrome, tend to have abnormalities of the thoracic duct and intercostal flow ( 61 , 79 – 81 ). Individuals with Down syndrome have dilation of the lymphatics of the head and neck ( 61 ). Characteristic imaging findings in individuals with PIEZO1 –generalized lymphatic dysplasia include connections between the hepatic and peribronchial lymphatics ( 61 ).…”

“…Individuals with Down syndrome have dilation of the lymphatics of the head and neck ( 61 ). Characteristic imaging findings in individuals with PIEZO1 –generalized lymphatic dysplasia include connections between the hepatic and peribronchial lymphatics ( 61 ). Importantly, if genetic testing is negative or unavailable, the abnormal lymphatic flow patterns identified by DCMRL may hint at genetic diagnosis and possibly guide medical treatment.…”

“…CCLA is one of the most heterogeneous types of CLA, as it encompasses any anomaly or dysfunction affecting the central lymphatic channels (thoracic duct and/or the cisterna chyli), which may become dilated, tortuous, or leaky. CCLA can be further classified as primary, with lymphatic dysfunction identified as the primary malformation, sometimes due to an identifiable genetic cause; or secondary, with lymphatic dysfunction acquired due to high central venous pressures or traumatic leaks ( 61 , 62 ). Individuals affected by CCLA may present with nonimmune fetal hydrops, pleural effusions, ascites, anasarca, protein-losing enteropathy, plastic bronchitis, pulmonary lymphatic perfusion, and even lymphedema ( 44 , 61 , 63 – 65 ).…”

“…CCLA can be further classified as primary, with lymphatic dysfunction identified as the primary malformation, sometimes due to an identifiable genetic cause; or secondary, with lymphatic dysfunction acquired due to high central venous pressures or traumatic leaks ( 61 , 62 ). Individuals affected by CCLA may present with nonimmune fetal hydrops, pleural effusions, ascites, anasarca, protein-losing enteropathy, plastic bronchitis, pulmonary lymphatic perfusion, and even lymphedema ( 44 , 61 , 63 – 65 ). These symptoms can be severely debilitating and even lead to death.…”