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Simultaneous pulmonary artery and Stanford type B aortic dissections via the ductus arteriosus

ABSTRACT: Pulmonary artery dissection is an exceedingly rare and highly lethal diagnosis that can result in arterial rupture; hence, it is most often identified postmortem. Moreover, pulmonary artery complications resulting from aortic dissection are uncommon occurrences that have seemingly only been reported in cases of Stanford type A aortic dissections. Due to the rarity of pulmonary artery dissections, there is no current established algorithm for treatment of these patients, unlike aortic dissections. We herein present a case of a 40-year-old male with history of uncontrolled hypertension who developed acute back and leg pain that was subsequently diagnosed with a Stanford type B aortic dissection that extended into the main pulmonary artery by way of the ductus arteriosus. Although the patient received appropriate care for his aortic dissection and hypertensive emergency, he eventually died due to development of extensive additional vascular insults: cerebrovascular accidents, compartment syndrome, and myocardial infarction. To our knowledge, this is the first case of combined pulmonary artery dissection and Stanford type B dissection in the literature, which unfortunately adds to the understanding that cases of pulmonary artery dissection tend to have a grim prognosis.

SUBMITTER: Revels J

PROVIDER: S-EPMC7515976 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Project description:Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous subset of congenital heart disease for which gene identification has been difficult. We describe a 46,XY,t(1;5)(p36.11;q31.2)dn translocation carrier with pervasive developmental delay who also exhibited LVOT defects, including bicuspid aortic valve (BAV), coarctation of the aorta (CoA) and patent ductus arteriosus (PDA). The 1p breakpoint disrupts the 5' UTR of AHDC1, which encodes AT-hook DNA-binding motif containing-1 protein, and AHDC1-truncating mutations have recently been described in a syndrome that includes developmental delay, but not congenital heart disease [Xia, F., Bainbridge, M.N., Tan, T.Y., Wangler, M.F., Scheuerle, A.E., Zackai, E.H., Harr, M.H., Sutton, V.R., Nalam, R.L., Zhu, W. et al. (2014) De Novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am. J. Hum. Genet., 94, 784-789]. On the other hand, the 5q translocation breakpoint disrupts the 3' UTR of MATR3, which encodes the nuclear matrix protein Matrin 3, and mouse Matr3 is strongly expressed in neural crest, developing heart and great vessels, whereas Ahdc1 is not. To further establish MATR3 3' UTR disruption as the cause of the proband's LVOT defects, we prepared a mouse Matr3(Gt-ex13) gene trap allele that disrupted the 3' portion of the gene. Matr3(Gt-ex13) homozygotes are early embryo lethal, but Matr3(Gt-ex13) heterozygotes exhibit incompletely penetrant BAV, CoA and PDA phenotypes similar to those in the human proband, as well as ventricular septal defect (VSD) and double-outlet right ventricle (DORV). Both the human MATR3 translocation breakpoint and the mouse Matr3(Gt-ex13) gene trap insertion disturb the polyadenylation of MATR3 transcripts and alter Matrin 3 protein expression, quantitatively or qualitatively. Thus, subtle perturbations in Matrin 3 expression appear to cause similar LVOT defects in human and mouse.

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Simultaneous pulmonary artery and Stanford type B aortic dissections via the ductus arteriosus

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