A 39-year-old man comes to the physician after he loses consciousness. His wife reports that they were at a school play when she heard her husband making some "gurgling noises." When she looked over at him, he looked "out of it" and started slumping towards her. She could not awaken him. After about ten seconds, he regained consciousness. He denies any prodrome of chest pain or pressure, shortness of breath, or palpitations. He currently has no complaints.
He denies any prior history of syncope or presyncope. He is physically active and plays in a doubles tennis league three times per week. He takes no medications on a regular basis. His family history is unknown as he was adopted.
His blood pressure is 115/70 mm Hg, pulse is 67/min, and BMI is 23 kg/m². The patient is in no distress. There is a normal S1 and S2 and no murmurs are appreciated. His lungs are clear to auscultation. The abdomen is soft and non-distended. The peripheral pulses are 2+ and symmetric.
His EKG is shown is this exhibit.
Which of the following is the most likely diagnosis?

Question

A 39-year-old man comes to the physician after he loses consciousness. His wife reports that they were at a school play when she heard her husband making some "gurgling noises." When she looked over at him, he looked "out of it" and started slumping towards her. She could not awaken him. After about ten seconds, he regained consciousness. He denies any prodrome of chest pain or pressure, shortness of breath, or palpitations. He currently has no complaints.
He denies any prior history of syncope or presyncope. He is physically active and plays in a doubles tennis league three times per week. He takes no medications on a regular basis. His family history is unknown as he was adopted.
His blood pressure is 115/70 mm Hg, pulse is 67/min, and BMI is 23 kg/m². The patient is in no distress. There is a normal S1 and S2 and no murmurs are appreciated. His lungs are clear to auscultation. The abdomen is soft and non-distended. The peripheral pulses are 2+ and symmetric.
His EKG is shown is this exhibit.

Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

This patient's clinical presentation and EKG are consistent with Brugada syndrome, an autosomal dominant disorder due to a sodium channel gene (SCN5) mutation. Patients usually present with syncope and sudden cardiac death without structural heart disease. The majority of patients with Brugada syndrome and sudden death are male, and attacks typically occur at rest and during sleep. The typical EKG pattern (type 1) has > 2 mm of coved ST elevation in the right precordial leads (V1-V3) with associated T wave inversion and right bundle branch block appearance. Treatment is controversial for asymptomatic patients with a Brugada EKG pattern since it is difficult to predict which patients are at risk for sudden death. However, implantable cardioverter defibrillator placement is indicated in patients (such as this one) with syncope. (Choice A) Although this patient has ST elevation seen in the anterior precordial leads, the lack of reciprocal ST depression and symptoms of acute MI makes acute ischemia less likely. (Choice C) Hypertrophic cardiomyopathy (HCM) may cause syncope in younger patients. However, this patient's lack of EKG findings showing increased voltage with bizarre strain patterns makes HCM less likely. In addition, he has no apical (mitral regurgitation) or left sternal border (LV outflow tract) murmurs. Hypertrophic cardiomyopathy (Choice D) Vasovagal syncope usually presents with a precipitating event followed by nausea, diaphoresis, warmth, and syncope. However, it should be a diagnosis of exclusion and made only after thoroughly ruling out structural heart disease. (Choice E) Wolff-Parkinson-White syndrome usually presents with a "delta wave" on the EKG, which is a slurring of the QRS upstroke with a short PR interval representing ventricular activation via the bypass tract (bundle of Kent). Patients usually develop ventricular fibrillation and sudden cardiac death in the setting of atrial fibrillation. Wolff-Parkinson-White syndrome Educational objective: Brugada syndrome can cause syncope and sudden cardiac death in patients with apparently structurally normal hearts. EKG findings include > 2 mm of coved ST elevation in the right precordial leads with associated T wave inversion and right bundle branch block appearance. Implantable cardioverter defibrillator placement is indicated in patients with syncope. __________ References: Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. (http://www.ncbi.nlm.nih.gov/pubmed/15655131) Diagnosis and management of brugada syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/21943787)

A 39-Year-Old Man Comes to the Physician After He Loses