Cantú syndrome as a rare cause of pericardial effusion in a young woman

Jesani, Hannah; Elangovan, Senthil; Zaidi, Abbas

doi:10.12968/hmed.2019.80.12.732

Cited by 2 publications

(3 citation statements)

References 5 publications

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“…Indeed, an overall view on the general clinical manifestations is frequently missing and this can cause diagnostic and therapeutic delays. 11 , 12 , 13 Furthermore, in our case, during the first 2 years of follow‐up there has been a rapid progression of the cardiac conditions that required the introduction of a systemic treatment at the age of 9 years, highlighting the importance of early diagnosis and a comprehensive follow‐up. Moreover, brain imaging, including evaluation of the cerebral vasculature, should be considered as an increased frequency of stroke was reported in a cohort of 74 CS patients, although long‐term risk is still unclear.…”

Section: Discussionmentioning

confidence: 72%

“…Despite the patient underwent through numerous medical counseling since birth and although suspicion of a genetic disorder, she did not have any formal diagnosis until the dermatological evaluation. Indeed, an overall view on the general clinical manifestations is frequently missing and this can cause diagnostic and therapeutic delays 11–13 . Furthermore, in our case, during the first 2 years of follow‐up there has been a rapid progression of the cardiac conditions that required the introduction of a systemic treatment at the age of 9 years, highlighting the importance of early diagnosis and a comprehensive follow‐up.…”

Section: Discussionmentioning

confidence: 82%

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Cantú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up

Mattiucci

Girolomoni

Cassina

et al. 2023

Clinical Case Reports

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Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly. We report on a 7‐year‐old girl with congenital generalized hypertrichosis, coarse facial appearance and cardiac involvement, with a de novo heterozygous mutation (c.3461G > A) in the ABCC9 gene. During the annual cardiac follow‐up at the age of nine the echocardiogram showed mild left ventricular dilatation in consideration of which she started ramipril treatment. The progression of the clinical manifestations of Cantú syndrome highlights the relevance of an early diagnosis, including genetic analysis, and a multidisciplinary approach with long‐term follow‐up.

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Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 82%

Cantú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up

Mattiucci

Girolomoni

Cassina

et al. 2023

Clinical Case Reports

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“…Progressive pericardial effusion in patients with Cantu syndrome can lead to fatigue, dyspnea and reduced exercise tolerance and may therefore necessitate further intervention. In some extreme cases, patients have required intervention in the form of repeated pericardiocentesis, pericardial stripping or pericardial window [ 9 , 16 ]. Our patient initially presented with evidence of a small pericardial effusion on echocardiogram, which became progressively worse despite medical management, resulting in intermittent right atrial collapse.…”

Section: Discussionmentioning

confidence: 99%

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature

Daas,

Gupta,

Kiblawi

2023

BMC Pediatr

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Background Cantu syndrome is a rare and complex multisystem disorder characterized by hypertrichosis, facial dysmorphism, osteochondroplasia and cardiac abnormalities. With only 150 cases reported worldwide, Cantu syndrome is now gaining wider recognition due to molecular testing and a growing body of literature that further characterizes the syndrome and some of its most important features. Cardiovascular pathology previously described in the literature include cardiomegaly, pericardial effusion, vascular dilation and tortuosity, and other congenital heart defects. However, cardiovascular involvement is highly variable amongst individuals with Cantu syndrome. In some instances, it can be extensive and severe requiring surgical management and long term follow up. Case presentation Herein we report a case of a fourteen-year-old female who presented with worsening pericardial effusion of unknown etiology, and echocardiographic findings of concentric left ventricular hypertrophy, a mildly dilated aortic root and ascending aorta. Her medical history was notable for hemoptysis and an episode of pulmonary hemorrhage secondary to multiple aortopulmonary collaterals that were subsequently embolized in early childhood. She was initially managed with Ibuprofen and Colchicine but continued to worsen, and ultimately required a pericardial window for the management of refractory pericardial effusion. Imaging studies obtained on subsequent visits revealed multiple dilated and tortuous blood vessels in the head, neck, chest, and pelvis. A cardiomyopathy molecular studies panel was sent, and a pathogenic variant was identified in the ABCC9 gene, confirming the molecular diagnosis of autosomal dominant Cantu syndrome. Conclusions Vascular anomalies and significant cardiac involvement are often present in Cantu syndrome, however there are currently no established screening recommendations or surveillance protocols in place. The triad of hypertrichosis, facial dysmorphism, and unexplained cardiovascular involvement in any patient should raise suspicion for Cantu syndrome and warrant further investigation. Initial cardiac evaluation and follow up should be indicated in any patient with a clinical and/or molecular diagnosis of Cantu syndrome. Furthermore, whole body imaging should be utilized to evaluate the extent of vascular involvement and dictate long term monitoring and care.

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Cantú syndrome as a rare cause of pericardial effusion in a young woman

Cited by 2 publications

References 5 publications

Cantú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up

Cantú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature

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