Cocaine-Induced Sudden Cardiac Death Unravelling a SCN5A-Related Disease

Cocaine-Induced Sudden Cardiac Death Unravelling a SCN5A-Related Disease

Cocaine is a global problem with an estimated 20 million users worldwide. These individuals have a signiﬁcantly higher risk of dying from any cause and sudden cardiac death is a possible complication, particularly among individuals <40 years of age. The role of underlying genetic heart conditions in this remains unknown. This case report highlights that genetic factors may contribute, and that a dedicated program, based on a team of different heart specialists, systematically evaluating sudden death in young individuals is essential to unveil this association. Integrating clinical information with traditional post-mortem examination and genetic testing after death is crucial to determine the cause of death and support testing of close family members.

This case report describes a 42-year-old man who was admitted for a seizure involving muscle stiffening and jerking due to cocaine overdose, with evidence by heart rhythm test (ECG) of a dangerously fast heart rhythm from the lower chambers successfully treated with a drug used to stabilize heart rhythm. ECG after a procedure to restore normal rhythm, revealed a particular pattern called Brugada pattern* type 1, which is associated with unstable heart rhythms that can be life threatening. Diagnostic tests showed a normal heart ultrasound and normal coronary arteries (the vessels that provide blood supply to the heart). The patient was discharged and offered close follow-up, which he declined. Four years later, he died suddenly while driving alone: the car hit the guardrail without the driver sustaining any visible injuries. Considering the previous dangerous heart rhythm and the cocaine-induced Brugada pattern type 1, the case was referred to the specialist heart pathology service of St. Orsola Hospital (Bologna), hub center of the Emilia-Romagna (Italy) network for sudden death in the young program. A detailed post-mortem revealed no visible problems with the heart’s structure, but toxicology testing confirmed recent cocaine use. DNA testing identified a change in the SCN5A gene, which plays a crucial role in regulating heart rhythm and is associated with Brugada syndrome. Considering all the evidence at hand, our conclusion was that the sudden death was due to a heart rhythm problem triggered by cocaine in a patient affected by SCN5A-related disease.

The effects on the heart and blood vessels of cocaine are worse at higher doses. At low doses, it increases the heart rate and the blood pressure and reduces blood flow to the heart muscle by stimulating narrowing of the heart arteries, and promoting blood clotting. Additionally, chronic use may accelerate narrowing of the arteries. At high doses, cocaine blocks the activity of the proteins that help control the heart’s electrical signals causing slowing until complete loss of electrical activity, and can induce a Brugada pattern type 1. Accordingly, dangerous heart rhythms and complete loss of heart activity are common causes of death in cocaine users.

This case report provides two relevant messages: 1. genetic factors may contribute to sudden cardiac death among cocaine users which remains a public health concern, 2. establishing a coordinated team of experts for the systematic investigation of sudden death in young individuals is crucial to avoid missed diagnoses and enable genetic testing of relatives.

* Brugada syndrome is a genetic heart condition that affects the heart’s electrical system, increasing the risk of life-threatening arrhythmias (abnormal heart rhythms). It is characterised by a specific abnormal pattern on an heart rhythm test (ECG) and can cause fainting or sudden cardiac death, especially in young adults. Often, it remains silent until a dangerous rhythm occurs. It is a condition passed through families, most frequently associated with changes in the gene coding for the SCN5A protein that helps control the heart’s electrical activity. Testing close relatives is crucial to identify others who may also be at risk.

Translated by Raffaello Ditaranto and Sophie Muir.

Raffaello Ditaranto, Guido Pelletti, Cesare Rossi, Mauro Bifﬁ, Arthur A.M. Wilde, Elena Biagini, Antonietta D’Errico, Maddalena Graziosi. (JACC: Case Reports. Volume 30, Issue 5, 5 March 2025)

Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.