After a scientific search of more than 30 years, researchers in the Faculty of Health Sciences at Stellenbosch University, in collaboration with international partners, pinpointed the gene that causes the inherited heart disease known as progressive familial heart block type I, in a group of South African families whose ancestor can be traced to one immigrant who landed at the Cape in 1722.
The disease was first described by Professor Andries BRINK, a cardiac specialist and former Dean of the Faculty, in 1977. In 1986, his son, Professor Paul BRINK, in collaboration with Professor Valerie CORFIELD, embarked on the search for the genetic mutation that triggers the condition and causes a disruption of the electrical impulses that control heart contractions. They traced this to a small area on chromosome 19 which contained about 80 genes. This search came to an end when Brink and Corfield, in collaboration with German scientists managed to pinpoint the exact gene amongst this group.
The study of progressive familial heart block started at Stellenbosch University in the 1970s when Professor Andries Brink, then practicing as a cardiac specialist at the Tygerberg Hospital, treated a baby who was born with a very slow heart rate. The child's condition was so serious that she had to be fitted with a pacemaker, becoming the first baby in South Africa to be treated with a pacemaker. At the time, pacemakers were at an early stage of development and were almost the size of a brick. While Brink was treating the baby, he became aware of another child who also needed a pacemaker. This child was a close relative of the baby under his care. He then examined the mother and found evidence of a similar underlying disease, but not as advanced as that of the baby. This lead Brink to believe that he was dealing with a family problem and he asked Dr Marie TORRINGTON to trace other families. She found most of them living in the Eastern Cape and that the carrier of the defective gene arrived at the Cape from Portugal. He married a woman of Dutch descent in Stellenbosch in 1735. Today, all South Africans affected by progressive familial heart block I are descendants of this couple.
Roughly 50% of children born to an affected person will be carriers. Of these about two thirds will need a pacemaker at some stage, according to Corfield. A very small percentage of them will show no evidence of the disease on an electrocardiogram, even though they carry the gene, while others will display an underlying electrical glitch. The disease can occur any time from birth until old age and in some cases it has been identified in utero. Today it can be managed with the timely implantation of a pacemaker, but before the advent of this device it often claimed the lives of patients affected by the condition.
Ignácio FERREIRA was born in 1695 in Lisbon, Portugal to Manuel FERREIRA and Antónia Francisca (from Alcântara, a suburb of Lisbon). He was baptised on 01 Nov 1695 in the Catholic church "Nossa Senhora da Ajuda". On 16-17 June 1722 a powerful north-westerly wind hit the Cape. On the morning of the 17th, ten ships were found wrecked and stranded, including the Chandos, an English East India Company ship. The Chandos was on its return voyage from Bengal to England. Today the Chandos is buried under reclaimed land near the Castle in Cape Town. The 27-year-old Ignácio FERREIRA was a surviving sailor on the Chandos. He decided to stay at the Cape and entered the service of the Dutch East India Company as a soldier.
On 06 November 1735, Ignácio (later Ignatius) FERREIRA married the 18-year-old Martha TERBLANCHE in Stellenbosch. They had 10 children. All the children were given Dutch names. In 1748, Ignácio applied for tenure of a stock farm called "De Hartebeest Kuijl" near Mossel Bay. The original homestead and a portion of the farm is today under the water of the dam supplying Mossel Bay. From here the family spread through the Langkloof, Karoo, to the Gamtoos Valley, throughout the Eastern Cape and beyond. Ignácio FERREIRA died on 24 May 1772 at the age of 77 years.