Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

17 February 2016 : Case report  USA

Absent Left Main Coronary Artery and Separate Ostia of Left Coronary System in a Patient with Holt-Oram Syndrome and Sinus Node Dysfunction

Challenging differential diagnosis, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)

Thein Tun AungBDEF, Edward Samuel RobertoADEF, Abdul WaseABDE

DOI: 10.12659/AJCR.896474

Am J Case Rep 2016; 17:93-96

Abstract

BACKGROUND: Holt-Oram syndrome (HOS) is a rare but significant syndrome consisting of structural heart defects, conduction abnormalities, and upper extremity anomalies. It was first described in the British Heart Journal in 1960 by Mary Holt and Samuel Oram as a report of atrial septal defect, conduction disturbances, and hand malformations occurring in family members. Patients can present with heart blocks or symptoms of underlying congenital heart defects.

CASE REPORT: A 41-year-old man with Holt-Oram syndrome presented with seizure-like activity and was found to have an underlying conduction disturbance. Physical exam showed bilateral atrophic upper extremities with anatomic disfiguration, and weakness of the intrinsic hand muscles. Cardiovascular exam revealed a slow heart rate with irregular rhythm. EKG showed sinus arrest with junctional escape rhythm. Cardiac catheterization revealed coronary anomalies, including absent left main coronary artery and separate ostia of the left anterior ascending and left circumflex coronary artery. Coronary arteries were patent. Following electrophysiology study, sick sinus syndrome and AV block were diagnosed, and the patient received implantation of a permanent pacemaker.

CONCLUSIONS: This patient presented with a seizure-like episode attributed to hypoxia during asystole from an underlying cardiac conduction defect associated with Holt-Oram syndrome. Arrhythmias and heart blocks are seen in these patients, and conduction defects are highly associated with congenital heart defects. Holt-Oram syndrome rarely presents with coronary artery anomalies. There is no reported case of separate coronary ostia and absent left main coronary artery. Prompt diagnosis is important since anomalies in coronary and upper extremity vasculature might be challenging for invasive procedures.

Keywords: Atrioventricular Block - diagnosis, Abnormalities, Multiple, Coronary Angiography, Coronary Vessel Anomalies - diagnosis, Heart Defects, Congenital - complications, Heart Septal Defects, Atrial - complications, Lower Extremity Deformities, Congenital - complications, Sick Sinus Syndrome - diagnosis, Upper Extremity Deformities, Congenital - complications

Add Comment 0 Comments

In Press

Case report  Japan

Successful Conservative Treatment of Tracheobronchial Injury as a Complication After Emergency Tracheal Int...

Am J Case Rep In Press; DOI: 10.12659/AJCR.947693  

Case report  USA

Aggressive Squamous Cell Lung Carcinoma in a Long-Term E-Cigarette User with Intracardiac Complications: A ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.947911  

Case report  Italy

Twenty Years of Continuous Bisphosphonate Use Leading to Atypical Bilateral Femoral Fractures: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.946435  

Case report  USA

Impact of Hypoglossal Nerve Stimulation on Nocturnal Asystole in a Patient with Severe Obstructive Sleep Ap...

Am J Case Rep In Press; DOI: 10.12659/AJCR.947160  

Most Viewed Current Articles

21 Jun 2024 : Case report  China (mainland) 100,331

Intracranial Parasitic Fetus in a Living Infant: A Case Study with Surgical Intervention and Prognosis Anal...

DOI :10.12659/AJCR.944371

Am J Case Rep 2024; 25:e944371

0:00

07 Mar 2024 : Case report  USA 53,693

Neurocysticercosis Presenting as Migraine in the United States

DOI :10.12659/AJCR.943133

Am J Case Rep 2024; 25:e943133

0:00

20 Nov 2023 : Case report  Saudi Arabia 36,172

Azithromycin Treatment for Acne Vulgaris: A Case Report on the Risk of Clostridioides difficile Infection

DOI :10.12659/AJCR.941424

Am J Case Rep 2023; 24:e941424

0:00

07 Jul 2023 : Case report  Saudi Arabia 24,938

A Classical Case of Cesarean Scar Endometriosis in a 35-Year-Old Woman Presenting with Cyclical Abdominal P...

DOI :10.12659/AJCR.940200

Am J Case Rep 2023; 24:e940200

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923