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Heterotaxy and Isomerism of the Atrial Appendages

Definitions The term heterotaxy comes from the Greek heteros, meaning “other” and taxis, meaning “arrangement.” The nomenclature and definition of heterotaxy have been a matter of debate for years and remain controversial. The complex combinations of cardiac malformations found in this syndrome make its description challenging. Heterotaxy can be defined as an abnormal arrangement of the internal thoracoabdominal organs across the left-right axis of the body.…

Atrioventricular Valve Atresia

In hearts with a univentricular atrioventricular connection both atria are connected to a single ventricle; this includes hearts with either atrioventricular valve (AVV) atresia or a double-inlet atrioventricular connection. Either the tricuspid or mitral valve may be atretic in a heart with AVV atresia. Mitral atresia is one of a heterogeneous group of conditions that comprise the hypoplastic left heart syndrome (HLHS). The incidence of this…

Double-Inlet Ventricle

Definition and Morphology The nomenclature for single ventricle has been a subject of debate for years. Double-inlet ventricle is commonly defined as the morphologic arrangement in which more than 50% of both atria are connected to one dominant ventricular chamber. The connection can be either through two separate atrioventricular (AV) valves (one of them may be imperforate) or through a common AV valve, excluding tricuspid or…

Double-Outlet Right Ventricle

Double-outlet right ventricle (DORV) is a “disease” that includes a family of anatomically related complex congenital heart lesions involving the right ventricular outflow tract (RVOT). There are several variations within the DORV diagnostic category that give rise to a wide spectrum of physiology ranging from tetralogy of Fallot to transposition of the great arteries (TGA) to true single-ventricle physiology. It therefore encompasses virtually the entire spectrum…

Congenitally Corrected Transposition of the Great Arteries

Definition and Morphology Congenitally corrected transposition of the great arteries (CCTGA) was described in 1875 by von Rokitansky and is characterized by atrioventricular (AV) and ventriculo-arterial (VA) discordance. CCTGA may also be referred to as ventricular inversion or L-transposition of the great arteries. Visceroatrial situs may be solitus or inversus. Ventricles may be L-looped or D-looped. The aorta (Ao) is typically located anterior and leftward. In…

Eisenmenger Syndrome

Definition and Morphology In 1897, Victor Eisenmenger, an Austrian physician, first described both the clinical and pathologic features of irreversible pulmonary vascular disease in a 32-year-old man with a nonrestrictive ventricular septal defect, cyanosis, and dyspnea since infancy. The patient had led a reasonably active life until 3 years before his death as an adult when he developed progressive congestive heart failure and died of hemoptysis.…

Transposition of the Great Arteries

Definition and Morphology The term transposition of the great arteries (TGA) describes the anatomic arrangement in which the aorta arises from the right ventricle (RV) and the pulmonary artery from the left ventricle (LV). This malformation was first described in 1797 by Baillie and later in 1814 by Farre. Associated abnormalities are relatively common, occurring in approximately 50% of patients. The most frequently associated lesions are…

Pulmonary Atresia With Intact Ventricular Septum

Definition and Morphology Pulmonary atresia with intact ventricular septum (PAIVS) was first described by John Hunter in 1783. It is a rare congenital cardiac malformation with considerable morphologic heterogeneity, and until recently, relatively poor outcome. There is complete atresia of the pulmonary valve in conjunction with a variable degree of hypoplasia of the tricuspid valve (TV) and right ventricular (RV) cavity. Invariably there is a usual…

Absent Pulmonary Valve Syndrome

Definition and Morphology Absent pulmonary valve syndrome is a rare congenital cardiac malformation that was first described anatomically by Chevers in 1847. The first clinical case report was published in 1927, the typical anatomy described in a 58-year-old with chronic cyanosis and clubbing. Fundamentally, the intracardiac anatomy is that of tetralogy of Fallot, but the characteristic morphologic feature of this lesion is the complete absence of…

Pulmonary Atresia With Ventricular Septal Defect

General Overview Pulmonary atresia (PA), or absence of a communication between the right ventricle (RV) and the main pulmonary artery (MPA), exists in two forms based on the presence or absence of a ventricular septal defect (VSD). Despite similar nomenclature, they are very disparate entities, each with a distinct management strategy and expected outcome. PA with a VSD (PA + VSD), discussed here, shares many structural…

Tetralogy of Fallot

Definition and Morphology It was Etienne-Louis Arthur Fallot who, in a series of papers in 1888, separated the malformation we now describe with his name from other anatomic lesions responsible for the “maladie bleue.” Although autopsy cases had been recognized previously, he was the first to correlate clinical features with pathologic findings. In anatomic terms, the malformation is composed of four constant features, namely, subpulmonary infundibular…

Double-Chambered Right Ventricle

Definition and Morphology Double-chambered right ventricle (DCRV) is characterized by anomalous or hypertrophied muscle bundles, which cause a form of subvalvar right ventricular outflow tract (RVOT) obstruction, dividing the right ventricle (RV) into a high-pressure proximal chamber and a low-pressure distal chamber. Anatomic descriptions of what was thought to be DCRV date back to at least the 1860s, but it was not until 100 years later,…

Pulmonary Stenosis

Definition and Morphology Pulmonary valvular stenosis is usually an isolated congenital anomaly and occurs in 7% to 12% of patients with congenital heart disease. It can sometimes be associated with other congenital heart defects such as atrial septal defect or peripheral pulmonary artery stenosis. It is the most common form of right-sided obstruction and results from the fusion of the valve leaflets. The pulmonary valve appears…

Tricuspid Regurgitation and Stenosis

Definitions and Morphology Isolated congenital anomalies of the tricuspid valve (TV) are rare structural malformations that involve one or more components of the TV apparatus and result more commonly in tricuspid regurgitation (TR) and less often tricuspid stenosis (TS). The normal components of the TV include the annulus, three leaflets, chordae, and variable papillary muscle anatomy. When viewed from the ventricular aspect, the annulus is shaped…

Ebstein Anomaly

Definition and Morphology Ebstein anomaly (EA) is a rare malformation of the tricuspid valve (TV) and right ventricle (RV). The anatomic and pathophysiologic characteristics are variable and lead to a wide spectrum of clinical scenarios. The clinical presentation in adults differs from that of children, particularly neonates and infants. Adult patients may present with an established diagnosis under medical management following surgical repair, or may have…

Vascular Rings, Pulmonary Slings, and Other Vascular Abnormalities

The aortic arch, branch pulmonary arteries, and the ductus arteriosus have a close spatial relationship to the airways and esophagus. Abnormalities of the position or course of these vascular structures can cause obstruction to the major airways or esophagus by external compression. The true incidence is difficult to estimate, because many cases are asymptomatic, but it has been reported to comprise 1% of all cardiovascular malformations…

Truncus Arteriosus

Definition and Morphology Truncus arteriosus (also known as persistent truncus arteriosus, truncus arteriosus communis, common arterial trunk, or common aorticopulmonary trunk) naturally involves a single arterial vessel exiting the base of the heart, which gives rise to the coronary, pulmonary, and systemic arteries. Embryologically, it is due to abnormal migration of the neural crest tissue, which results in failure of septation of the outflow tract into…

Aortic Coarctation and Interrupted Aortic Arch

Coarctation of the Aorta Definition and Morphology Coarctation of the aorta (CoA) is a complex cardiovascular disorder, and, as part of a generalized arteriopathy, a lifelong disease that persists after treatment. It was Morgagni who, in 1760, first described CoA, during the autopsy of a monk. More detailed pathoanatomic descriptions came from Jordan (1827) and Reynaud (1828). In the adult, CoA is almost always located at…

Patent Ductus Arteriosus and Aortopulmonary Window

Patent Ductus Arteriosus Embryology The patent ductus arteriosus (PDA) is a remnant of the distal left sixth aortic arch, which connects the proximal descending aorta to the main pulmonary artery near the origin of the left pulmonary artery. During fetal life it is a vital structure essential for normal fetal development, diverting blood flow away from the high-resistance pulmonary circulation through the aorta to the placenta.…

Sinus of Valsalva Aneurysms

Introduction Since its first description in 1840 by Thurman, varying terminologies and classifications have been used to describe the sinus of Valsalva aneurysm (SV aneurysm). Because this lesion lies on a spectrum of other aortic root pathologies, it is important that precise terminology is carefully defined before there can be a meaningful discussion regarding etiology, management, and outcome. In 1962, Sakakibara and Konno proposed a nomenclature…