Autopsy in adults with congenital heart disease (ACHD)

Abstract

The adult congenital heart diseases (ACHD) population is exceeding the pediatric congenital heart diseases (CHD) population and is progressively expanding each year, representing more than 90% of patients with CHD. Of these, about 75% have undergone surgical and/or percutaneous intervention for palliation or correction. Autopsy can be a very challenging procedure in ACHD patients. The approach and protocol to be used may vary depending on whether the pathologists are facing native disease without surgical or percutaneous interventions, but with various degrees of cardiac remodeling, or previously palliated or corrected CHD. Moreover, interventions for the same condition have evolved over the last decades, as has perioperative myocardial preservations and postoperative care, with different long-term sequelae depending on the era in which patients were operated on. Careful clinicopathological correlation is, thus, required to assist the pathologist in performing the autopsy and reaching a diagnosis regarding the cause of death. Due to the heterogeneity of the structural abnormalities, and the wide variety of surgical and interventional procedures, there are no standard methods for dissecting the heart at autopsy. In this paper, we describe the most common types of CHDs that a pathologist could encounter at autopsy, including the various types of surgical and percutaneous procedures and major pathological manifestations. We also propose a practical systematic approach to the autopsy of ACHD patients.

Keywords: Adult congenital heart diseases; Autopsy; Cardiovascular pathology; Congenital heart diseases; Protocol.

Fig. 1

Drawings of the most common types of atrial (a), atrioventricular (b) and ventricular septal defects (c), and their locations inside the cavities

Fig. 2

Diagram of ToF after surgical repair, with a patch inserted to enlarge the pulmonary valve and the RV outflow tract (*) and closure of the interventricular defect with a patch (ç) (a). Operated TOF at adult age; the patient died of heart failure (b, c, d). Anterior view of the heart with transannular patch (*) and dilatation of the right ventricle with enlargement of the right heart silhouette (b); internal view of the RV outlet showing the site of the ventricular septal defect closed by an endothelialized patch (ç) and dilatation of the RV (c); close view of the calcified RV outflow patch (*) (d)

Fig. 3

Histology of RV wall of an adult patient with operated ToF. Transmural section showing hypertrophic myocardium and fibrosis of interstitial reactive and replacement type. Elastic van Gieson stain

Fig. 4

Hybrid procedures in a case of ToF with previous surgery and stenting of the pulmonary valve with a percutaneous intervention, using a Melody valve

Fig. 5

Bicuspid aortic valve in a 50-year-old man, with dystrophic calcification causing aortic valve stenosis

Fig. 6

Diagram of the different types of CoA (a). A case of an adult patient with asymptomatic aortic coarctation (arrows without tail), who died because of iatrogenic laceration and dissection (white arrows) of the aorta during percutaneous aortic valve implantation. (TA, thoracic aorta). The patient also had bicuspid aortic valve (b)

Fig. 7

Transposition of the great arteries (a–c): Drawing of the native defect, with the aorta originating from the RV and the pulmonary artery from the left ventricle (a). Drawing of the atrial switch (Mustard or Senning procedure), redirecting the systemic venous blood flow into the left ventricle and the pulmonary trunk, and the oxygenated blood from the lungs into the right ventricle and the aorta (b). Drawing of the arterial switch procedure with repositioning the great vessels above the appropriate ventricles and re-implantation of the coronary arteries (c)

Fig. 8

Transposition of the great arteries after Mustard correction at adult age (a–d). Outflow tract of left ventricle is connected to the pulmonary artery (a). Outflow of the right ventricle is connected to the aorta, with “anomalous” origin of the coronary arteries (b). Anterior (atrial) baffle directing the caval blood toward left ventricle (c). Pulmonary venous baffle (with prosthetic material visible) directing blood toward the tricuspid valve and right ventricle (d)

Fig. 9

The different types of Fontan-type procedures, grouped in main patterns (a–c). Direct atriopulmonary connection without interposition of conduits (a). Intracardiac lateral tunnel draining the IVC into the pulmonary circulation bypassing the right ventricle (b). Extracardiac conduit draining the IVC blood into the pulmonary arteries (c). In (b) and (c), a bidirectional Glenn anastomosis drains SVC blood to the right pulmonary artery

Fig. 10

Failing Fontan circulation with hepatic cirrhosis and pulmonary hemorrhage (a–f): macroscopic view of the liver at autopsy, with evidence of cirrhosis (a); histology showing fibrosis with disorganization of the structure, dilatation of the veins, and regenerative nodules using hematoxylin-eosin staining (b); Masson trichrome staining highlighting the fibrosis in green (c); high-power view of c (d); lung hemorrhage, hematoxylin and eosin staining (e); lung thrombosis (white arrows), Masson trichrome staining (f)

Fig. 11

Congenital coronary arteries anomalies in two adult patients. Left coronary artery originating from the wrong sinus, running in front of the pulmonary trunk, at low risk of SCD (a); drawing of a coronary artery anomaly with abnormal course between the aorta and the pulmonary arteries, at high risk of SCD (b). High takeoff of the right coronary artery above the sinotubular junction, at low risk of SCD (c)

Fig. 12

Histology of vascular remodeling in pulmonary arterial hypertension (a–d). Concentric non-laminar intimal thickening Azan Mallory staining (a), hematoxylin-eosin staining (b); medial muscular hypertrophy, Wiegert van Gieson staining (c); plexiform lesions, hematoxylin-eosin staining (d)