Pulmonary capillary haemangiomatosis coexistence with sinus venosus ASD: morphometric analysis and literature review

Abstract

aaPulmonary capillary haemangiomatosis (PCH) is a rare vascular abnormality confined to the lung which results in the development of chronic pulmonary hypertension. It is a fatal disease which is difficult to diagnose antemortem because the clinical features may be identical to those of primary pulmonary hypertension (PPH) or pulmonary venoocclusive disease (PVOD). It is a histological diagnosis based on the presence of numerous foci of proliferating thin walled capillaries which invade lung alveolar tissue, pleura, and bronchial and vascular walls. Since this lesion was first described by WAGENVOORT and co-workers in [1] 1978, 23 cases have been reported in the literature, 17 of which were diagnosed at autopsy, making the actual prevalence of PCH difficult to estimate [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] ABSTRACT: A 24 yr old white female presented with dyspnoea, orthopnoea, paroxysmal nocturnal dyspnoea, cough and fatigue. Transthoracic echocardiography revealed a sinus venosus atrial septal defect (ASD). Right heart catheterization confirmed severe pulmonary hypertension (80/37 mmHg). A chest radiograph showed enlarged pulmonary arteries with peripheral pruning. Surgical repair of the ASD and lung biopsy were performed. Two days later, she developed right heart failure and was treated with inhaled nitric oxide and then a calcium channel blocker. She failed to improve and was readmitted three months later with severe right heart failure and progressive dyspnoea. While waiting for lung transplantation, she developed haematochezia and died. Light microscopy of lung biopsy and autopsy tissue revealed the structural changes of pulmonary hypertension and focal increases in congested pulmonary capillaries consistent with the diagnosis of pulmonary capillary haemangiomatosis. Quantitative analysis demonstrated that the pathological changes were rapidly progressive. Eur Respir J 1998; 12: 240-244.

Neonatal Hemangiomatosis and Atrial Septal Defect: A Rare Cause of Right Heart Failure in Infancy

“…It is speculative whether the liver hemangiomas may also have directly influenced the pulmonary circulation. Pulmonary hypertension at presentation was neither confirmed nor refuted in this case; however, it has been found in association with hepatic hemangiomas (7,8), possibly from the release of vasoactive substances. In contrast, in conditions where a significant amount of blood flowing to the lungs has bypassed the liver, such as hepatopulmonary syndrome, end‐stage liver disease, and after superior vena cava to pulmonary artery anastomoses, pulmonary arteriovenous fistulas can develop (9–11).…”

Diffuse hemangiolymphangiomatosis in an infant

“…In general the term``angiomatosis'' is used for lymphangiomatosis or hemangiomatosis. However, both features may be present in the same patient, as in this case, and at all ages [1,4,8,10].…”

“…The conditions are life-threatening and often fatal because of rapid progression, there being no effective medical and surgical therapy. These diseases are often misdiagnosed or diagnosed only at autopsy [1,2,5,8]. Our experience with such a patient who also presented a diagnostic dilemma is recorded here.…”

“…Most cases of pulmonary or splenic hemangiomatosis or lymphangiomatosis are sporadic. Familial occurrence and coexistence with other minor or major nonvascular malformations of these diseases are rare [5,8]. In general the term``angiomatosis'' is used for lymphangiomatosis or hemangiomatosis.…”

Pulmonary capillary haemangiomatosis in children and adolescents: report of a new case and a review of the literature

“…Kartagener syndrome [47], Takayasu aortoarteritis [24], hypertrophic cardiomyopathy [23], vascular dementia [7], systemic lupus erythematosus [12] and scleroderma [17]; other associations, such as sleep apnoea/obesityhypertension syndrome [2], sinus venosus atrial septal defect [48] and fetal constrictive pericardiac defect [1] have likewise been noted. In the latter group of associations, the lesions either resembled those of PCH or were of a focal character.…”