Jerwell-Lange-Nielsen Syndrome

Jerwell-Lange-Neelsen syndrome: A rare inherited heart disease

Jerwell-Lange-Nielsen syndrome (DLNS) is a rare inherited heart disease characterized by disruption of the conduction of electrical impulses in the heart. This syndrome got its name in honor of American cardiologists Arthur Jerwell, Frederik Lange-Nielsen and Carl Nielsen, who first described its features in 1992.

The main clinical manifestations of DLNS are cardiac arrhythmias such as prolonged QT interval and tachycardia, especially during exercise or emotional stress. These arrhythmias can lead to serious complications, including fainting, seizures, and even sudden death. In some cases, the syndrome may appear from early childhood, while in others it may appear only in adulthood.

DLNS is a hereditary disease and is transmitted according to an autosomal recessive inheritance pattern. This means that both parents must be carriers of the gene for a child to inherit the syndrome. The main cause of DLNS is mutations in genes that encode ion channels in the heart, responsible for the normal conduction of electrical impulses.

The diagnosis of DLNS is based on clinical signs, electrocardiography (ECG), and genetic testing. The ECG usually shows a prolonged QT interval, which is one of the key diagnostic criteria. Genetic testing can identify specific mutations associated with DLNS.

Treatment of DLNS is aimed at preventing serious arrhythmic complications. In most cases, patients are prescribed antiarrhythmic drugs that help stabilize the heart rhythm. In some cases, a pacemaker or defibrillator may need to be implanted to prevent sudden death.

In addition, an important aspect of the management of DLNS is the awareness of patients and their families about possible complications and the need to promptly seek medical help. Regular monitoring by a cardiologist and adherence to recommendations to limit physical activity and avoid potentially stressful situations also play an important role in managing this syndrome.

Despite the fact that DLNS is a serious and potentially dangerous disease, modern diagnostic and treatment methods can significantly improve the prognosis for patients. Early detection of the syndrome and timely treatment play a crucial role in preventing serious complications and improving the quality of life of patients suffering from DLNS.

In conclusion, Jerwell-Lange-Neelsen syndrome is a rare inherited heart disease characterized by disruption of the conduction of electrical impulses in the heart. It can lead to serious arrhythmic complications and even sudden death. Early detection, genetic testing and adequate treatment play an important role in the management of this syndrome. Thanks to modern methods of diagnosis and therapy, the prognosis for patients with DLNS is significantly improved, allowing them to lead a full and active life subject to doctor’s recommendations and regular medical supervision.

John Howell Jervell, Carl Harvey Lange Nielsen, Earl Cox and Arnold Langenburg from the USA independently proposed to describe dysfunction of the mitral valve and left ventricle in coronary heart disease in the 60-70s of the last century. The authors grouped these disorders under the name “GLN syndrome” after their last names. For several years, the diagnosis of HFN syndrome seemed to have an advantage over others as the authors of these papers gained fame and support among researchers. However, in subsequent years, most English and American authors came to the conclusion that patients meeting the criteria for GLN syndrome do not necessarily have the same pathology. This has led to the fact that at present a number of authors have stopped using this formulation to refer to dysfunction of the left chamber. Instead, preference is given to its synonym **"aortic syndrome**", which suggests the presence of a structural lesion of the mitral or even aortic valve leaflet, associated with stagnation of blood in the pulmonary and systemic circulation and leading to functional dysfunction of the left ventricle. This is now the only formulation widely accepted in the United States and Europe.