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Congenital defects / diseases

#953540

20 Sep 2026 : Case report  Ecuador

Eisenmenger Syndrome After Delayed Atrial Septal Defect Closure at High Altitude: A Case Report

Angelica Guaman-Gavilema ORCID logo, Domenica Villacres-Alarcon ORCID logo, Andres Arteaga-Arellano ORCID logo, Roberto Arregui-Costales, Jordan Llerena-Velastegui ORCID logo, Ruth Jimbo-Sotomayor ORCID logo, Xavier Sanchez ORCID logo

DOI: 10.12659/AJCR.953540

Am J Case Rep 2026; 27:e953540

478 342 0

#953540

20 Sep 2026 : Case report  Ecuador

Eisenmenger Syndrome After Delayed Atrial Septal Defect Closure at High Altitude: A Case Report

Angelica Guaman-Gavilema ORCID logo, Domenica Villacres-Alarcon ORCID logo, Andres Arteaga-Arellano ORCID logo, Roberto Arregui-Costales, Jordan Llerena-Velastegui ORCID logo, Ruth Jimbo-Sotomayor ORCID logo, Xavier Sanchez ORCID logo

DOI: 10.12659/AJCR.953540

Am J Case Rep 2026; 27:e953540

478 342 0

#952213

16 Sep 2026 : Case report  Indonesia

Late Diagnosis of Noonan Syndrome Presenting With Infective Endocarditis: A Multidisciplinary Challenge in an Underserved Population

Nur Farhanah ORCID logo, Jessica Novia Hadiyanto ORCID logo, Sefri Noventi Sofia ORCID logo, Tania Tedjo Minuljo, Tri Indah Winarni ORCID logo

DOI: 10.12659/AJCR.952213

Am J Case Rep 2026; 27:e952213

429 259 0

#952213

16 Sep 2026 : Case report  Indonesia

Late Diagnosis of Noonan Syndrome Presenting With Infective Endocarditis: A Multidisciplinary Challenge in an Underserved Population

Nur Farhanah ORCID logo, Jessica Novia Hadiyanto ORCID logo, Sefri Noventi Sofia ORCID logo, Tania Tedjo Minuljo, Tri Indah Winarni ORCID logo

DOI: 10.12659/AJCR.952213

Am J Case Rep 2026; 27:e952213

429 259 0

#952912

26 Aug 2026 : Case report  China

Perioperative Airway Management in Treacher Collins Syndrome With Obstructive Sleep Apnea: A Case Report

Yaqiong Jiang, Zhikeng Deng, Bo Yao, Xiaohua Liang, Zhaojun Qin

DOI: 10.12659/AJCR.952912

Am J Case Rep 2026; 27:e952912

594 665 0

#952912

26 Aug 2026 : Case report  China

Perioperative Airway Management in Treacher Collins Syndrome With Obstructive Sleep Apnea: A Case Report

Yaqiong Jiang, Zhikeng Deng, Bo Yao, Xiaohua Liang, Zhaojun Qin

DOI: 10.12659/AJCR.952912

Am J Case Rep 2026; 27:e952912

594 665 0

#953106

06 Jul 2026 : Case report  Guatemala

Diagnostic Challenge of Sequential Appendicitis in a Patient With Appendiceal Duplication: A Case Report

Adonys Hidalgo López ORCID logo, Héctor Rafael Ochomogo García, Juan Sebastian Asteguieta Castillo, Carlos Diaz Q ORCID logo

DOI: 10.12659/AJCR.953106

Am J Case Rep 2026; 27:e953106

508 712 0

#953106

06 Jul 2026 : Case report  Guatemala

Diagnostic Challenge of Sequential Appendicitis in a Patient With Appendiceal Duplication: A Case Report

Adonys Hidalgo López ORCID logo, Héctor Rafael Ochomogo García, Juan Sebastian Asteguieta Castillo, Carlos Diaz Q ORCID logo

DOI: 10.12659/AJCR.953106

Am J Case Rep 2026; 27:e953106

508 712 0

#952577

05 Aug 2026 : Case report  China

Chest Pain Due to Anomalous Origin of the Left Circumflex Artery From the Opposite Sinus of Valsalva in a 70-Year-Old Woman

Tian Luo, Kang Luo, JunBing Lin, Qiang Huang

DOI: 10.12659/AJCR.952577

Am J Case Rep 2026; 27:e952577

568 678 0

#952577

05 Aug 2026 : Case report  China

Chest Pain Due to Anomalous Origin of the Left Circumflex Artery From the Opposite Sinus of Valsalva in a 70-Year-Old Woman

Tian Luo, Kang Luo, JunBing Lin, Qiang Huang

DOI: 10.12659/AJCR.952577

Am J Case Rep 2026; 27:e952577

568 678 0

#952887

22 Jun 2026 : Case report  Saudi Arabia

Suspected Adult-Onset Congenital Myasthenic Syndrome Associated With a Heterozygous CHRND Variant in a Patient With Seropositive Rheumatoid Arthritis: A Case Report

Khaled Abdulwahab Amer ORCID logo, Hanan Hassan Almalki ORCID logo, Faisal Saud Alhudaithi

DOI: 10.12659/AJCR.952887

Am J Case Rep 2026; 27:e952887

612 963 0

#952887

22 Jun 2026 : Case report  Saudi Arabia

Suspected Adult-Onset Congenital Myasthenic Syndrome Associated With a Heterozygous CHRND Variant in a Patient With Seropositive Rheumatoid Arthritis: A Case Report

Khaled Abdulwahab Amer ORCID logo, Hanan Hassan Almalki ORCID logo, Faisal Saud Alhudaithi

DOI: 10.12659/AJCR.952887

Am J Case Rep 2026; 27:e952887

612 963 0

#953243

23 Jul 2026 : Case report  USA

A Novel Presentation of Hemodynamic Decompensation With Cardiogenic Shock in a Patient With Partial Anomalous Pulmonary Venous Return

Wafaa Mansour, Jamil Qiqieh ORCID logo, Johnathan Stephan ORCID logo, Sara Gezahegn ORCID logo, Fadi Ayoub, Dawit K. Worku ORCID logo, Alehegn Gelaye ORCID logo

DOI: 10.12659/AJCR.953243

Am J Case Rep 2026; 27:e953243

489 732 0

#953243

23 Jul 2026 : Case report  USA

A Novel Presentation of Hemodynamic Decompensation With Cardiogenic Shock in a Patient With Partial Anomalous Pulmonary Venous Return

Wafaa Mansour, Jamil Qiqieh ORCID logo, Johnathan Stephan ORCID logo, Sara Gezahegn ORCID logo, Fadi Ayoub, Dawit K. Worku ORCID logo, Alehegn Gelaye ORCID logo

DOI: 10.12659/AJCR.953243

Am J Case Rep 2026; 27:e953243

489 732 0

#952679

07 Jul 2026 : Case report  USA

A Communicating Anomalous Vessel Between the Brachial and Radial Artery: A Cadaver Case Report

Joseph N. Henen, Miles M. Fearn, Grace A. Arcuri, Lindsey Davidson, Anika Banerjee, Adel Maklad

DOI: 10.12659/AJCR.952679

Am J Case Rep 2026; 27:e952679

481 757 0

#952679

07 Jul 2026 : Case report  USA

A Communicating Anomalous Vessel Between the Brachial and Radial Artery: A Cadaver Case Report

Joseph N. Henen, Miles M. Fearn, Grace A. Arcuri, Lindsey Davidson, Anika Banerjee, Adel Maklad

DOI: 10.12659/AJCR.952679

Am J Case Rep 2026; 27:e952679

481 757 0

#951885

21 May 2026 : Case report  Mexico

A Singleton Male Infant With Aplasia Cutis Congenita Type V Associated With Single Umbilical Artery and Atrial Septal Defect: A Case Report

Jesús J. Martínez-García ORCID logo, Lourdes Elizabeth Zamudio-García, Melissa Martínez-Félix, Uriel A. Angulo-Zamudio, Hector Flores-Villaseñor ORCID logo, Erika Acosta-Smith ORCID logo, Adrian Canizalez-Román ORCID logo, Nidia León-Sicairos ORCID logo

DOI: 10.12659/AJCR.951885

Am J Case Rep 2026; 27:e951885

718 1,235 0

#951885

21 May 2026 : Case report  Mexico

A Singleton Male Infant With Aplasia Cutis Congenita Type V Associated With Single Umbilical Artery and Atrial Septal Defect: A Case Report

Jesús J. Martínez-García ORCID logo, Lourdes Elizabeth Zamudio-García, Melissa Martínez-Félix, Uriel A. Angulo-Zamudio, Hector Flores-Villaseñor ORCID logo, Erika Acosta-Smith ORCID logo, Adrian Canizalez-Román ORCID logo, Nidia León-Sicairos ORCID logo

DOI: 10.12659/AJCR.951885

Am J Case Rep 2026; 27:e951885

718 1235 0

#952024

19 May 2026 : Case report  Saudi Arabia

Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication

Mohammed Shahab Uddin ORCID logo, Maan Albehair ORCID logo, Fayez Nashi Motlaq Alshammari ORCID logo, Amr Esmail, Khaled Shafeen ORCID logo, Abdullah Bin Hassan ORCID logo, Hana Bawazier

DOI: 10.12659/AJCR.952024

Am J Case Rep 2026; 27:e952024

690 1,426 0

#952024

19 May 2026 : Case report  Saudi Arabia

Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication

Mohammed Shahab Uddin ORCID logo, Maan Albehair ORCID logo, Fayez Nashi Motlaq Alshammari ORCID logo, Amr Esmail, Khaled Shafeen ORCID logo, Abdullah Bin Hassan ORCID logo, Hana Bawazier

DOI: 10.12659/AJCR.952024

Am J Case Rep 2026; 27:e952024

690 1426 0

#951645

11 May 2026 : Case report  China

Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity

Weiwei Zeng, Sheng Lin, Junge Zheng, Zheng Zheng, Cunhai Li, Guihua Yang, Jilong Yao, Shan Duan

DOI: 10.12659/AJCR.951645

Am J Case Rep 2026; 27:e951645

702 1,224 0

#951645

11 May 2026 : Case report  China

Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity

Weiwei Zeng, Sheng Lin, Junge Zheng, Zheng Zheng, Cunhai Li, Guihua Yang, Jilong Yao, Shan Duan

DOI: 10.12659/AJCR.951645

Am J Case Rep 2026; 27:e951645

702 1224 0

#952252

10 May 2026 : Case report  USA

Culture-Negative Infective Endocarditis Presenting as ANCA-Positive Glomerulonephritis

Mohammad Eshaq Kyhan ORCID logo, Adam M. Bressler

DOI: 10.12659/AJCR.952252

Am J Case Rep 2026; 27:e952252

1,055 2,628 0

#952252

10 May 2026 : Case report  USA

Culture-Negative Infective Endocarditis Presenting as ANCA-Positive Glomerulonephritis

Mohammad Eshaq Kyhan ORCID logo, Adam M. Bressler

DOI: 10.12659/AJCR.952252

Am J Case Rep 2026; 27:e952252

1055 2628 0

#951886

28 Apr 2026 : Case report  Serbia

Prosthesis-Free Repair of Partial Atrioventricular Septal Defect in Down Syndrome: A Valve-Sparing Technique

Živojin S. Jonjev ORCID logo, Aleksandar M. Milosavljevic ORCID logo, Mirko Todić ORCID logo, Jovan Rajić, Kristina Jonjev ORCID logo

DOI: 10.12659/AJCR.951886

Am J Case Rep 2026; 27:e951886

684 1,105 0

#951886

28 Apr 2026 : Case report  Serbia

Prosthesis-Free Repair of Partial Atrioventricular Septal Defect in Down Syndrome: A Valve-Sparing Technique

Živojin S. Jonjev ORCID logo, Aleksandar M. Milosavljevic ORCID logo, Mirko Todić ORCID logo, Jovan Rajić, Kristina Jonjev ORCID logo

DOI: 10.12659/AJCR.951886

Am J Case Rep 2026; 27:e951886

684 1105 0

#951855

25 Apr 2026 : Case report  Malaysia

Unilateral Linguofacial Trunk of the External Carotid Artery: A Cadaveric Case Report From Myanmar

Thazin ORCID logo, Muhammad Danial Che Ramli ORCID logo, Che Mohd Nasril Che Mohd Nassir ORCID logo, Zaw Myo Hein ORCID logo

DOI: 10.12659/AJCR.951855

Am J Case Rep 2026; 27:e951855

959 1,503 0

#951855

25 Apr 2026 : Case report  Malaysia

Unilateral Linguofacial Trunk of the External Carotid Artery: A Cadaveric Case Report From Myanmar

Thazin ORCID logo, Muhammad Danial Che Ramli ORCID logo, Che Mohd Nasril Che Mohd Nassir ORCID logo, Zaw Myo Hein ORCID logo

DOI: 10.12659/AJCR.951855

Am J Case Rep 2026; 27:e951855

959 1503 0

#951665

24 Apr 2026 : Case report  China

Diagnostic and Treatment Strategies for Adult Non-Ossifying Fibromas: A Case Report and Literature Review

Zhibin Zhao, Jiawei Li, Shaoke Wu

DOI: 10.12659/AJCR.951665

Am J Case Rep 2026; 27:e951665

1,312 5,004 0

#951665

24 Apr 2026 : Case report  China

Diagnostic and Treatment Strategies for Adult Non-Ossifying Fibromas: A Case Report and Literature Review

Zhibin Zhao, Jiawei Li, Shaoke Wu

DOI: 10.12659/AJCR.951665

Am J Case Rep 2026; 27:e951665

1312 5004 0

#951250

18 Apr 2026 : Case report  Poland

Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report

Maisa Manasar-Dyrbuś ORCID logo, Rafał Stojko ORCID logo, Monika Paul-Samojedny ORCID logo, Ewa Winkowska ORCID logo, Jakub Staniczek ORCID logo

DOI: 10.12659/AJCR.951250

Am J Case Rep 2026; 27:e951250

879 1,540 0

#951250

18 Apr 2026 : Case report  Poland

Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report

Maisa Manasar-Dyrbuś ORCID logo, Rafał Stojko ORCID logo, Monika Paul-Samojedny ORCID logo, Ewa Winkowska ORCID logo, Jakub Staniczek ORCID logo

DOI: 10.12659/AJCR.951250

Am J Case Rep 2026; 27:e951250

879 1540 0

#950257

17 Apr 2026 : Case report  China

Bronchoscopy-Guided Bronchial Blocker for Acute Right Pulmonary Artery Hemorrhage in an Infant With Berry Syndrome: A Case Report

Yi Yang, Feizhou Zhang, Huafeng Wang, Jiangmei Wang, Li Yang, Xiaofen Tao ORCID logo, Lei Wu

DOI: 10.12659/AJCR.950257

Am J Case Rep 2026; 27:e950257

604 1,053 0

#950257

17 Apr 2026 : Case report  China

Bronchoscopy-Guided Bronchial Blocker for Acute Right Pulmonary Artery Hemorrhage in an Infant With Berry Syndrome: A Case Report

Yi Yang, Feizhou Zhang, Huafeng Wang, Jiangmei Wang, Li Yang, Xiaofen Tao ORCID logo, Lei Wu

DOI: 10.12659/AJCR.950257

Am J Case Rep 2026; 27:e950257

604 1053 0

#951696

17 Mar 2026 : Case report  Indonesia

Congenital Limb Duplication and Spinal Dysraphism: A Rare Case Report Highlighting Single-Stage Multidisciplinary Surgery and Life-Changing Outcome

Iman Dwi Winanto ORCID logo, Jefryan Sofyan ORCID logo, Tommy Mandagi ORCID logo, Ricovially Davya Guci ORCID logo, Abdurrahman Mouza ORCID logo, Arya Tjipta Prananda ORCID logo

DOI: 10.12659/AJCR.951696

Am J Case Rep 2026; 27:e951696

801 2,096 0

#951696

17 Mar 2026 : Case report  Indonesia

Congenital Limb Duplication and Spinal Dysraphism: A Rare Case Report Highlighting Single-Stage Multidisciplinary Surgery and Life-Changing Outcome

Iman Dwi Winanto ORCID logo, Jefryan Sofyan ORCID logo, Tommy Mandagi ORCID logo, Ricovially Davya Guci ORCID logo, Abdurrahman Mouza ORCID logo, Arya Tjipta Prananda ORCID logo

DOI: 10.12659/AJCR.951696

Am J Case Rep 2026; 27:e951696

801 2096 0

#951421

11 Mar 2026 : Case report  Saudi Arabia

Unrepaired Truncus Arteriosus Type 1 With Eisenmenger Syndrome and Recurrent Embolic Strokes: An Adult Case Report

Osama A. Abdulrahman, Mohammad F. Babgi, Jameel T. Alrefai, Atiqah H. Alfahmi, Shaimaa H. Oraif, Nada Bakhsh, Fatma Aboul-Enein ORCID logo, Ahemd M. Samman

DOI: 10.12659/AJCR.951421

Am J Case Rep 2026; 27:e951421

805 1,281 0

#951421

11 Mar 2026 : Case report  Saudi Arabia

Unrepaired Truncus Arteriosus Type 1 With Eisenmenger Syndrome and Recurrent Embolic Strokes: An Adult Case Report

Osama A. Abdulrahman, Mohammad F. Babgi, Jameel T. Alrefai, Atiqah H. Alfahmi, Shaimaa H. Oraif, Nada Bakhsh, Fatma Aboul-Enein ORCID logo, Ahemd M. Samman

DOI: 10.12659/AJCR.951421

Am J Case Rep 2026; 27:e951421

805 1281 0

#949545

08 Mar 2026 : Case report  Poland

Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series

Oliwia Wicik, Maksymilian Baryła ORCID logo, Jacek Pliszczyński ORCID logo, Aleksandra Popławska-Ferenc

DOI: 10.12659/AJCR.949545

Am J Case Rep 2026; 27:e949545

700 1,150 0

#949545

08 Mar 2026 : Case report  Poland

Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series

Oliwia Wicik, Maksymilian Baryła ORCID logo, Jacek Pliszczyński ORCID logo, Aleksandra Popławska-Ferenc

DOI: 10.12659/AJCR.949545

Am J Case Rep 2026; 27:e949545

700 1150 0

#951257

20 Feb 2026 : Case report  Saudi Arabia

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant

Faisal Al-Qahtani, Motazz A. Alarfaj, Abdulelah Al-Abdullah

DOI: 10.12659/AJCR.951257

Am J Case Rep 2026; 27:e951257

815 2,330 0

#951257

20 Feb 2026 : Case report  Saudi Arabia

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant

Faisal Al-Qahtani, Motazz A. Alarfaj, Abdulelah Al-Abdullah

DOI: 10.12659/AJCR.951257

Am J Case Rep 2026; 27:e951257

815 2330 0

#950665

01 Jan 2026 : Case report  Saudi Arabia

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening

Lujain K. Halawani

DOI: 10.12659/AJCR.950665

Am J Case Rep 2026; 27:e950665

1,453 94 0

#950665

01 Jan 2026 : Case report  Saudi Arabia

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening

Lujain K. Halawani

DOI: 10.12659/AJCR.950665

Am J Case Rep 2026; 27:e950665

1453 94 0

#951532

06 Feb 2026 : Case report  USA

Management of Acute Cholecystitis in a Patient With Eisenmenger Syndrome and Abdominal Heterotaxy: A Case Report

Jes M. Sanders ORCID logo, Matthew Harris ORCID logo, Juan Carlos Caicedo, Steven J. Schwulst

DOI: 10.12659/AJCR.951532

Am J Case Rep 2026; 27:e951532

685 1,470 0

#951532

06 Feb 2026 : Case report  USA

Management of Acute Cholecystitis in a Patient With Eisenmenger Syndrome and Abdominal Heterotaxy: A Case Report

Jes M. Sanders ORCID logo, Matthew Harris ORCID logo, Juan Carlos Caicedo, Steven J. Schwulst

DOI: 10.12659/AJCR.951532

Am J Case Rep 2026; 27:e951532

685 1470 0

#951298

05 Feb 2026 : Case report  China

Paraduodenal Hernia With Intestinal Obstruction During Pregnancy

Yuhang You, Fangxin Wan, Guodong Song

DOI: 10.12659/AJCR.951298

Am J Case Rep 2026; 27:e951298

611 1,216 0

#951298

05 Feb 2026 : Case report  China

Paraduodenal Hernia With Intestinal Obstruction During Pregnancy

Yuhang You, Fangxin Wan, Guodong Song

DOI: 10.12659/AJCR.951298

Am J Case Rep 2026; 27:e951298

611 1216 0

In Press

Case report  China

Exertional Rhabdomyolysis With Moderate Creatine Kinase Elevation and Marked Transaminase Elevation but Pre...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954163  

Case report  Brazil

Image-Guided Cervicotomy and Recurrent Laryngeal Nerve Reinnervation in Zone II Glass Neck Trauma: A Case R...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954178  

Case report  USA

When Infection Mimics Vasculitis: Hydralazine-Induced ANCA-Associated Crescentic Glomerulonephritis in the ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.954110  

Case report  China

Treatment of External Auditory Canal Hemangioma by Surgical Excision and Flap Reconstruction: 2 Case Reports

Am J Case Rep In Press; DOI: 10.12659/AJCR.953469  

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