Clinical case of the cardiovascular system involvement in a patient with Charcot-Marie-Tooth disease

Abstract

Hereditary motor and sensory type 1A neuropathy (known as Charcot-Marie-Tooth disease) is a disease of peripheral nerves characterized by symptoms of progressive polyneuropathy with preferential damage of distal extremity muscles. Damage to the cardiovascular system is extremely rare and heterogenous in this pathology. This disease is not included in the list of indications for interventional antiarrhythmic aid. We could not find in available literature a clinical description of the development of sinus node dysfunction associated with this pathology. The present clinical report presents a case of detection and successful treatment of a damage to the cardiovascular system that manifested itself as sinus node dysfunction/sick sinus syndrome in the tachy-brady variant. A combination treatment approach using radiofrequency catheter ablation, implantation of a permanent pacemaker, and antiarrhythmic therapy associated with drug and non-drug treatment of motor sensory neuropathy resulted in recovery and long-term maintenance of sinus rhythm as well as in beneficial changes in the patient’s neurological status.

Damage to the esophagus in combination with hereditary motor and sensory neuropathy: description of a clinical case in a 12-year-old child

“…Мутации в гене MPZ приводят также к развитию нескольких клиническо-генетических вариантов болезни ШМТ, Дежерина-Сотта, Русси-Леви, врожденной гипомиелинизирующей нейропатии. К настоящему времени картировано более 40 локусов, отвечающих за наследственные моторно-сенсорные нейропатии, идентифицировано более двадцати генов, мутации в которых приводят к развитию клинического фенотипа ШМТ [6][7][8][9][10][11][12][13][14].…”

“…Формирующиеся изменения привлекают внимание специалистов к неврологическому статусу и изменениям опорнодвигательного аппарата. Действительно, анализ клинических случаев демонстрирует такие жалобы как нарушением походки, мелкой моторики (письма) и отсутствие описаний дисфагии и другой симптоматики со стороны ЖКТ, настораживающей клиницистов, в приводимых отечественных клинических наблюдениях [9][10][11][12][13][14].…”

Anesthetic Management of Coronary Artery Bypass Grafting in a Patient with Charcot-Marie-Tooth Disease and Multivessel Coronary Artery Disease

“…Proper perioperative evaluation of potential underlying cardiovascular manifestations is necessary. Previous reports of patients with CMT have described cases of individuals presenting with sinus node dysfunction, long QT syndrome, atrial flutter, atrioventricular block, and cardiomyopathy [ 17 – 19 ]. Left ventricular hypertrophy, which can occur secondary to autonomic dysfunction-induced cardiomyopathy in patients with CMT, should be given special scrutiny on evaluation with echo-cardiography [ 20 ].…”