A 41-year-old man in Diyarbakır was diagnosed with the rare inherited heart condition Bundgaard syndrome after seeking care for dizziness, fainting and chest pain.
A 41-year-old man in Diyarbakır, southeastern Turkey, was diagnosed with Bundgaard syndrome, a rare inherited heart condition, after presenting with dizziness, fainting episodes and chest pain. According to a case report published in JACC: Case Reports, the patient and affected relatives represent the first reported family with Bundgaard syndrome in Turkey. The condition is associated with characteristic ECG abnormalities and an increased risk of cardiac arrhythmias and sudden cardiac death.
A 41-year-old man in Diyarbakır, southeastern Turkey, was diagnosed with Bundgaard syndrome, a rare inherited heart condition, after presenting to an emergency department with dizziness, fainting episodes and chest pain, according to a case report published in JACC: Case Reports.
The report describes the patient and affected members of his family as the first documented family with Bundgaard syndrome in Turkey.
The case was reported by Ferdi Ekinci, Metin Okşul, Yusuf Ziya Şener, Serdar Söner, Sacide Yekta Öztoprak, Hamza Polat, Erkan Baysal and Henning Bundgaard, the cardiologist after whom the syndrome is named. The report was published online on April 3, 2026.
According to the authors’ institutional affiliations, the patient was evaluated by the Department of Cardiology at Gazi Yaşargil Training and Research Hospital in Diyarbakır.
ECG findings raised suspicion
According to the case report, the patient experienced chest pain lasting about an hour accompanied by episodes of fainting. His physical examination and vital signs showed no significant abnormalities.
An electrocardiogram, or ECG, showed widespread ST-segment depression across multiple leads, along with ST-segment elevation in lead aVR.
The findings initially raised concern about a possible coronary condition, prompting physicians to perform coronary angiography.
The examination identified an atherosclerotic plaque and slow coronary flow in the left anterior descending artery, but no significant obstruction was found.
Persistent ECG abnormalities and the patient’s family history eventually prompted doctors to consider Bundgaard syndrome.
Family history supported diagnosis
A myocardial perfusion scan performed one month later showed no evidence of myocardial ischemia. An exercise test, however, demonstrated more pronounced ST-segment depression during physical exertion.
The patient’s family history provided additional clues. The case report documented sudden cardiac death in his maternal grandmother and paternal great-aunt.
Family screening found ECG abnormalities meeting diagnostic criteria for Bundgaard syndrome in the patient’s father, two sisters and 4-year-old daughter.
The findings were consistent with the dominant inheritance pattern associated with the condition.
What is Bundgaard syndrome?
Bundgaard syndrome, also known in the medical literature as familial ST-segment depression syndrome, is a recently characterized inherited cardiac disorder.
One of its defining features is persistent and widespread ST-segment depression on an ECG that cannot be explained by myocardial ischemia or other more common causes.
The syndrome has been associated with atrial and ventricular arrhythmias, impaired cardiac function, heart failure and an increased risk of sudden cardiac death.
The clinical course and individual level of risk can vary considerably, however, making specialist assessment and long-term monitoring important for people diagnosed with the condition.
Cardiac MRI revealed unusual finding
Cardiac magnetic resonance imaging in the Turkish patient identified mild myocardial edema and late gadolinium enhancement in some areas.
Doctors also detected mitral annular disjunction, or MAD, an anatomical abnormality involving the structures around the heart’s mitral valve.
The case report’s authors said the coexistence of MAD and Bundgaard syndrome had not previously been reported, making the finding potentially relevant to further research into the cardiac characteristics of the condition.
Patient placed under monitoring
A 24-hour heart rhythm recording did not identify significant arrhythmias. Based on the patient’s findings and risk assessment, the medical team concluded that an implantable cardioverter-defibrillator, or ICD, was not indicated at that stage.
The patient was instead placed under regular follow-up, with assessments planned every six months to monitor for new symptoms, arrhythmias and changes in cardiac function.
The authors said Bundgaard syndrome should be considered in patients with persistent, unexplained and widespread ST-segment depression, particularly when there is a relevant family history.
Why It Matters
Bundgaard syndrome is a rare inherited heart disorder that remains supported by a relatively limited body of clinical research. Reporting the first documented family in Turkey could improve recognition of the condition across different populations. Its association with serious arrhythmias and sudden cardiac death also highlights the importance of accurate diagnosis, family screening and individualized long-term cardiac monitoring.
Frequently Asked Questions
What is Bundgaard syndrome?
Bundgaard syndrome is an inherited cardiac disorder characterized by persistent and widespread ST-segment depression on an ECG. In some patients, it is associated with atrial or ventricular arrhythmias, impaired heart function and an increased risk of sudden cardiac death.
Is Bundgaard syndrome inherited?
Yes. Current evidence indicates that Bundgaard syndrome follows an autosomal dominant inheritance pattern. This means assessment of relatives may be clinically relevant when a patient is diagnosed with the condition.
How is Bundgaard syndrome diagnosed?
Diagnosis involves ECG findings, clinical assessment, family history and excluding other conditions that can cause similar ST-segment abnormalities. Evaluation and individual risk assessment should be performed by a cardiology specialist.
Is dizziness a symptom of Bundgaard syndrome?
Dizziness, fainting episodes and chest pain were reported in the Turkish patient, but these symptoms are not specific to Bundgaard syndrome and can have many causes. People experiencing unexplained fainting, persistent chest pain or other concerning cardiovascular symptoms should seek appropriate medical evaluation.
Source: JACC: Case Reports, European Heart Journal, PubMed
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