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Phenotypes
Short report
RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports
  1. Mostafa El Hajjam1,2,3,
  2. Ahmed Mekki1,4,5,
  3. Aurelien Palmyre1,6,
  4. Melanie Eyries1,7,
  5. Florent Soubrier1,7,
  6. Isabelle Bourgault Villada1,8,
  7. Augustin Ozanne1,9,
  8. Robert Yves Carlier1,10,
  9. Thierry Chinet1,11
  1. 1 Hereditary Hemorrhagic Telangiectasia Center of Paris, AP-HP, Boulogne-Billancourt, Île-de-France, France
  2. 2 DMU Smart Imaging, AP-HP, Boulogne-Billancourt, France
  3. 3 Medical Imaging department, APHP, Boulogne-Billancourt, France
  4. 4 DMU Smart Imaging, AP-HP, Garches, France
  5. 5 Medical Imaging department, APHP, Garches, France
  6. 6 Genetics, AP-HP, Boulogne-Billancourt, Île-de-France, France
  7. 7 Genetics, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Paris, Île-de-France, France
  8. 8 Department of Dermatology, AP-HP, Boulogne-Billancourt, France
  9. 9 Department of Interventional Neuroradiology, Bicêtre Teaching Hospital, AP-HP, Le Kremlin-Bicêtre, France
  10. 10 Assistance Publique des Hôpitaux de Paris (AP-HP), GHU Paris-Saclay University, DMU Smart Imaging, Medical Imaging Department, Raymond Poincaré Teaching Hospital, Garches, France; INSERM U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ) Paris-Saclay, Paris, France
  11. 11 Department of Respiratory Diseases and Thoracic Oncology, AP-HP, Boulogne-Billancourt, Île-de-France, France
  1. Correspondence to Dr Ahmed Mekki, Hereditary Hemorrhagic Center of Paris, DMU Smart Imaging, Medical Imaging department., Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Boulogne-Billancourt, France; ahmed.mekki{at}aphp.fr

Abstract

Background We report two cases of RASA1-related capillary malformation-arteriovenous malformation (CM-AVM1) syndrome mimicking hereditary haemorrhagic telangiectasia (HHT).

Methods and results A 28-year-old man, previously embolised for cerebral arteriovenous malformations (AVMs), presented with epistaxis and typical nasal telangiectasias of HHT. CT scan revealed a large portocaval shunt. The second patient was a 9-year-old girl presenting with cyanosis and several mucocutaneous telangiectasias, similar to those observed in typical cases of HHT. CT scan revealed a huge and complex pulmonary AVM of the right lower lobe and a hepatic AVM within the left lobe. HHT diagnosis was considered possible according to the Curaçao criteria for the two patients, with at least two criteria for each. Genetic tests did not find any mutation in the three classic genes (Endoglin, Activin receptor-like kinase 1 or Mothers against decapentaplegic homolog 4), but identified in both cases an RASA1 mutation, known to cause CM-AVM1 syndrome.

Conclusions Pulmonary AVM and portocaval shunt, usually encountered in HHT, have not yet been described in the CM-AVM1 syndrome. RASA1 screening may be considered in case of HHT suspicion, particularly when mutations are not found in the usually affected genes.

  • cardiovascular medicine
  • clinical genetics

https://doi.org/10.1136/jmedgenet-2019-106792

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    Footnotes

    • MEH and AM are joint first authors.

    • MEH, AM, RYC and TC contributed equally.

    • Contributors MEH and AM designed and supervised the study and wrote the first draft. MEH, AM, AP, ME, FS, IB, AO, RYC and TC participated in the diagnosis. MEH, AM, RYC and TC analysed the imaging data. AP, ME and FS were involved in genetic data analysis. IB was responsible for the analysis of skin anomalies. All authors read and approved the final manuscript. The authors wish it to be known that, in their opinion, RYC and TC are joint last authors.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.