Spectrum of congenital heart disease in Malta. An excess of lesions causing right ventricular outflow tract obstruction in a population-base study

Abstract

Aims: To quantify birth prevalence and spectrum of congenital heart disease in the Island population of Malta, and compare these rates with previous studies.

Methods: All patients diagnosed as having congenital heart disease by echocardiography, cardiac catheterization, surgery or post-mortem by 1 year of age between 1990-1994 were included. There were 231 cases of live born congenital heart disease with a birth prevalence of 8.8/1000 live births. The commonest lesions were ventricular septal defect, pulmonary stenosis and tetralogy of Fallot. The rates of individual lesions were compared with two recent epidemiological studies with similar methodologies.

Results: Although the overall birth prevalence of congenital heart disease was similar in three studies, significantly higher rates of pulmonary stenosis, tetralogy of Fallot and double outlet right ventricle were found in Malta, all of which predispose to right ventricular outflow tract obstruction. In contrast, there were lower rates of lesions causing left ventricular outflow tract obstruction. A higher rate of ventricular septal defect was also found. The Maltese gene pool may contain an inherent predisposition towards lesions causing right ventricular outflow tract obstruction.