Subclavian Artery Supply Disruption Research Articles

A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment

Poland’s syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported. Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, “the subclavian artery supply disruption sequence” (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function. Most patients have subtle presentation at birth and milder forms in childhood. Functional limitations due to PS are usually minimal. Surgical treatment aims to improve pulmonary functions arising from severe thoracic deformities but is more often done to enhance the cosmesis. The use of adipose-derived mesenchymal stem cells and fat transfer have shown promising results in recent times for correction of chest defects and breast augmentation. Gaining deeper insights into the etiopathogenesis and clinical presentation of PS will improve the clinical recognition and management of this rare condition. In this review article, we aim to outline the details of this syndrome including its etiopathogenesis, evolution, spectrum of clinical manifestations, other systemic associations, diagnostic modalities, and recent advances in treatment.

Pedicled Supraclavicular Flap for Neck Defect Reconstruction in Poland Syndrome.

The most accepted pathogenesis for Poland syndrome is the subclavian artery supply disruption sequence during embryonic growth. The result is associated with a constellation of abnormalities of structures supplied by the subclavian artery. We present a case of a neck defect reconstructed with a fasciocutaneous supraclavicular flap in a patient with Poland syndrome with the absence of a pectoralis major muscle. To the best of our knowledge, this is the first report of the use of the supraclavicular flap in patients with Poland syndrome. An 80-year-old patient with a 14-mm-Breslow-thickness melanoma had undergone a 3-cm-wide local excision of the scar on his right neck and reconstruction with a pedicled supraclavicular flap despite him having Poland syndrome on the same side. The flap was well perfused, and the patient was discharged at postoperative day 5. Complete healing of the flap was observed without any flap loss. The supraclavicular fasciocutaneous flap is a versatile and useful pedicled flap reconstruction for head and neck defects. It is possible in patients with Poland syndrome as shown, and the pedicle should be checked with preoperative Doppler and an exploratory incision before completely raising it.

Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report

BackgroundPoland syndrome is a congenital malformation characterized by ipsilateral hand and chest wall depression, including an absence or hypoplasia of the breast and pectoral muscles. These hypoplastic defects are reportedly caused by a subclavian artery supply disruption sequence.Case presentationA 45-year-old Japanese woman, an out-patient, underwent an emergency examination for intense left lower abdominal pain. Computed tomography images revealed a hydronephrotic left kidney and dilatation of the left ureter. No ureteral calculus or neoplasm was found. In addition, no abnormalities connected to her left abdominal pain were found. Nephritis was diagnosed based on the results of urine analysis, and a course of antibiotics was administered. Computed tomography images also revealed a history of breast reconstruction with a custom-made silicone implant in her right breast. The present case showed symptoms of Poland syndrome, which were absence of the sternal head of the right pectoralis major and asymmetrical malformation of the chest wall due to hypoplasia of the right rib cage. In addition to typical Poland syndrome symptoms, she had hypoplasia of her right kidney, hypoplasia of the right gluteus minimus muscle, right-sided pelvic hypoplasia, spinal curvature to the right, and a cystic mass in her right ovary.ConclusionsIn the present case of Poland syndrome, computed tomography images revealed malformation of the chest wall, absence of the pectoral muscle, and hypoplasia of a left kidney. Unilateral visceral hypoplasia is reported to be caused by a subclavian artery supply disruption sequence that occurs around 7 to 8 weeks of gestation. The present case can be considered a rare atypical phenotype of Poland syndrome with possible subclavian artery supply disruption sequence with internal iliac artery supply disruption.

Isolated congenital amastia: A subclavian artery supply disruption sequence?

Isolated congenital amastia: A subclavian artery supply disruption sequence?

Further support for the vascular aetiology of Poland syndrome – a case report

The aetiology of Poland syndrome remains unclear. It has been postulated that a developmentally normal foetus experiences a destructive process that subsequently results in cascading consequences eventually resulting in its characteristic features. We report the case of a male patient with Poland's anomaly who presented at birth with a large lymphangioma also affecting the right side of his chest. We propose that the pressure exerted by the space occupying lesion during embryological development lends further support to the existence of a subclavian artery supply disruption sequence as the causative insult.

Cavernous malformation with Poland–Möbius syndrome

This 17-year-old boy presented with a history of seizures. Physical examination revealed the absence of a left pectoralis major, an asymmetrical mandibula, and left hand symbrachydactyly. On neurological examination the patient was found to have congenital bilateral abducent nerve palsy and left peripheral facial paresis (Fig. 1). Magnetic resonance images and computed tomography scans of the brain revealed a cerebral cavernous malformation (CCM) in the left superior temporal gyrus, which had bled recently. There were no other abnormalities in the brainstem (Fig. 2 left). A lesionectomy was performed (Fig. 2 right), and the results of the histopathological examination were consistent with the diagnosis of CCM. The patient reported no seizure recurrence at the 5-year follow-up examination. The combination of the bilateral cranial nerve deficits of Mobius syndrome with the hand and chest wall anomalies of Poland syndrome is called Poland‐Mobius syndrome.2 The “subclavian artery supply disruption hypothesis” 2

Association of aortic arch anomalies and subclavian artery supply disruption with neurofibromatosis

We report an 8-year-old Japanese girl with von Recklinghausen disease, who presented with aortic arch anomalies and left hemilateral oculo-otolaryngeal abnormalities including strabismus, blepharoptosis, a dysplastic external ear and hearing loss. The aortic arch anomalies including subclavian artery obstruction that appeared to be a consequence of the neurofibromatosis, and the hemilateral oculo-otolaryngeal abnormalities could be explained by disruption of the subclavian artery supply during embryogenesis.

On the association of Poland anomaly and primary microcephaly

In this report we describe a moderately mentally retarded female child with the association of Poland's anomaly and primary microcephaly with marked neuronal migration disturbances, cortical atrophy and white substance hypoplasia. This observation further supports the suggestion that the subclavian artery supply disruption sequence may be part of a broader event of interruption of the early embryonic blood supply also involving the cerebral arterial vessels.

Isolation of the right subclavian artery with subclavian steal in a child with Klippel-Feil anomaly: an example of the subclavian artery supply disruption sequence.

We studied a patient with Klippel-Feil anomaly and subclavian steal due to isolation of the right subclavian artery. Other anomalies included hypoplasia of the right clavicle and right vertebral artery, low bifurcation of the left common carotid artery and left choanal atresia. The patient was mentally retarded with corticospinal, cerebellar, and brain stem signs. The entire brain and cervical spinal cord were small; there was no central nervous system malformation, hydrocephalus, or bony impingement on neural structures. Embryologic vascular disorders have been found to be responsible for various congenital systemic and neurologic anomalies such as intestinal atresia and hydranencephaly. Subclavian artery supply disruption sequence has been hypothesized to result in Klippel-Feil, Poland, and Möbius anomalies. In this case the vertebral and facial abnormalities may well be related to anomalous subclavian and carotid supply. An embryonic vascular "steal" has been thought to cause the sirenomelia anomaly. We postulate that the subclavian steal, during the embryonic period, may have been responsible for the small size of this patient's cerebral hemispheres, brain stem, cerebellum, and cervical spinal cord.

Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.

A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse limb defects, and the Sprengel anomaly. We propose that these conditions are the result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and/or their branches, and hypothesize that the occlusions occur at specific locations in these vessels during or around the sixth week of embryologic development and produce predictable patterns of defects. The term subclavian artery supply disruption sequence (SASDS) is suggested for the group of birth defects represented by the above conditions. Possible causes for interruption of embryonic blood supply are discussed.