Sudden death due to hypertrophic obstructive cardiomyopathy: A medico-social diagnosis

A 22-year-old male was rushed to the hospital and was declared dead on arrival, a case was registered with the police under section 174 Cr.P.C. The deceased complained of chest pain the night before and acidity the morning of the incident. Autopsy revealed a congested and edematous brain and congested lung, liver, spleen, kidneys. The left ventricular heart wall was 2.4 cm thick and the right ventricular wall was 0.9 cm thick with unremarkable valves and coronaries. Histopathological examination of heart revealed features compatible with hypertrophic obstructive cardiomyopathy. Blood tests revealed increased CPK, CK-MB, Troponin T levels. DNA analysis revealed mutations. In the interest of the relatives of the deceased, the family members were informed of the genetic mutation which is autosomal dominant and was advised to undergo genetic counselling. Hypertrophic obstructive cardiomyopathy is a condition in which a portion of the myocardium is enlarged, hence cardiac output falls. It is a common cause of death among athletes. It can be diagnosed by echocardiogram and has no preventive measure or cure. This disease is mostly asymptomatic or may present as dyspnea, angina, and palpitations or may lead to sudden death. When a case of sudden death is diagnosed to be due to hypertrophic obstructive cardiomyopathy does it have a genetic basis? Will the results obtained be useful even though it is a retrospective diagnosis? It is absolutely essential to ascertain if the cause of the disease was due to genetic mutation as this is autosomal dominant and the chances of it appearing in the family is high. The results will be useful as the relatives can be given genetic counselling. There is no preventive measure towards the mutations but checkups at regular intervals can lead to an early detection of hypertrophic myocardium which can be cured by medicine or surgery. Hence it is essential to screen for the mutations leading to hypertrophic obstructive cardiomyopathy and use this information to counsel the family in view of the well-being of the community.