The Holt–Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt–Oram syndrome patients and should be added to the list of possible associated cardiac defects.

The most common benign cardiac tumours are the myxomas, the rhabdomyomas, and the fibromas, with the latter 2 variants being the most common tumours encountered in children. The size and location of tumours within the heart create a variety of clinical findings, such as murmurs, chest pain, tachyarrythmias, and congestive cardiac failure. Nowadays, the tumours are usually diagnosed by echocardiography, magnetic resonance imaging and cardiac catheterization. Surgical excision is the treatment of choice if the tumour causes either arrhythmia or cavitary obstruction. In this report, we describe a giant ventricular fibroma co-existing with an atrial septal defect in a girl aged 15 years.

Malta is a small island with minimal changes in its population, making it an ideal location for epidemiological and historical studies dealing with congenital heart malformations. Ventricular septal defect was studied retrospectively from 1930 to 1994. A sharp and significant decline in age at diagnosis was found, predating echocardiography. All defects are now diagnosed by echocardiography, which has resulted in an increased prevalence of this lesion as seen at birth, particularly of minor defects. The prevalence of ventricular septal defect from 1990 to 1994 was 3.85/1000 live births, with 3.O3/1OOO not needing surgery and 0.83/1000 requiring operative intervention. Half the defects closed spontaneously. The majority of ventricular septal defects overall, and those spontaneously closing, were muscular defects. The overall prevalence at birth was significantly higher than that reported in recent studies using similar methodologies, implying that the reported rate is more likely to be the true prevalence at birth of clinically detectable defects.

We report a patient in whom the circumflex coronary artery arose anomalously from the right aortic sinus. The patient also had atrial and ventricular septal defects in the setting of Eisenmenger physiology. We recommended transplantation of the heart and lungs.