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Mitral and tricuspid valve surgery for Coffin-Lowry syndrome

Takeshi Yoshida1, Takeki Ohashi, Masato Furui

  • 1Cardiovascular Surgery Department, Matsubara Tokushukai Hospital, 7-13-26 Amamihigashi, Matsubara, Osaka, 580-0032, Japan.

General Thoracic and Cardiovascular Surgery
|July 23, 2013
PubMed

Insights

Coffin-Lowry syndrome patients can develop severe heart valve issues. Surgical repair of mitral and tricuspid valve regurgitation successfully improved cardiac function in an 18-year-old male.

Area of Science:

  • Cardiology
  • Genetics
  • Thoracic Surgery

Background:

  • Coffin-Lowry syndrome is a rare X-linked genetic disorder.
  • It presents with craniofacial, skeletal abnormalities, intellectual disability, short stature, and hypotonia.
  • Cardiac involvement, particularly valve disease, can be a serious complication.

Observation:

  • An 18-year-old male with Coffin-Lowry syndrome exhibited worsening cardiac failure.
  • Echocardiography revealed severe mitral valve regurgitation and tricuspid valve regurgitation.
  • Associated findings included a hypoplastic ascending aorta and shortened mitral papillary muscles and chordae.

Findings:

  • The patient underwent successful mitral valve implantation with a biological valve.
  • Tricuspid annular plication with a ring was also performed.
  • Postoperative recovery was uneventful, with significant improvement in cardiac failure.

Implications:

  • This case highlights the importance of cardiac surveillance in Coffin-Lowry syndrome.
  • Surgical intervention for severe valvular disease is feasible and effective.
  • Successful management can improve quality of life and cardiac outcomes in affected individuals.

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