Results 191 to 200 of about 44,851 (309)

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian   +7 more
wiley   +1 more source

Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1‐Related Noonan Syndrome (p.Ser257Leu): A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT This case describes a female infant with RAF1‐related Noonan syndrome who developed severe hypertrophic obstructive cardiomyopathy, pulmonary hypertension, and cardiorespiratory failure that responded to trametinib treatment but ultimately progressed to death following dose tapering and discontinuation of therapy. To the best of our knowledge,
C. Noah Nilsson   +8 more
wiley   +1 more source

Atrial Flutter as a Late Presentation of Scimitar Vein in an Adult With Prior ASD Repair

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Adult patients with unexplained atrial arrhythmias and right heart dilation should prompt consideration of congenital anomalies such as scimitar vein, even decades after atrial septal defect repair. Early recognition using multi‐modality imaging may prevent delayed diagnosis and progressive cardiopulmonary complications.
Fereshte Rastegarnasab   +3 more
wiley   +1 more source

Two Cases of Post‐Operative Coronary–Cameral Fistulas After Unusual Myectomy Procedures

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
Post‐surgical coronary–cameral fistulas (CCF) can occur after various myectomy procedures. Here we present one case of CCF after resection of the hypertrophied RV muscle bundle in double‐chambered RV (DCRV) and one case of CCF after subaortic web resection.
Neda Toofaninejad   +3 more
wiley   +1 more source

A Case of Chronic Thromboembolic Pulmonary Hypertension and Pregnancy, Managed With Pulmonary Endarterectomy: Clinical Challenges, Case Report, and Literature Review

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, potentially curable form of pulmonary hypertension, with limited data in pregnancy. We describe a 37‐year‐old woman with progressive dyspnea, back pain, and cough, whose evaluation revealed severe right ventricular enlargement, high pulmonary pressures, and extensive V/Q ...
Hassan Ahangar   +3 more
wiley   +1 more source

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