Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder. It shows a characteristic progeria phenotype. The average life expectancy of HGPS patients is reported to be ~ 14.6 years. A case was a 33-year-old man with progeria phenotype, severe cardiac failure, and convulsion. He had several cardiac surgeries include Mitral and Aortic valve replacement, Atrial Septum Defect (ASD) closure and Coronary Artery Bypass Graft (CABG) .
Hutchinson-Gilford Progeria Syndrome (HGPS), Progeria, is a rare genetic and fatal disorder. Jonathan Hutchison (
The patient's consent was issued for the publication of a medical history. A 33- year-old man was known as progeria syndrome. He was the accountant of a factory. He was the first child of a family marriage and has one healthy sister and two healthy brothers.He was born at 35 weeks of pregnancy due to maternal trauma. The weight was 1700 grams at birth.He had been good growth until 8year-old. The high growth rate was progressively decreased. He was referred to an endocrinologist for evaluation of short status at 11 years.
He was complained from palpitation at 20 years old-age and leads to cardiac surgery for artificial aortic and mitral valve replacement. The ASD closure was performed. He was admitted to the hospital at 32 year- old with chest pain. Computerized Tomography(
Multislice CT angiography of coronary arteries displayed
calcified and noncalcified plaques and mild stenosis on left main coronary artery. In addition, CTscan disclosed diffuse calcified plaques, stenosis at all portion of the left anterior descending artery and left circumflex artery, calcified plaques and significant stenosis on right coronary artery. CABG was carried out for left anterior descending (LAD), obtuse marginal, Diagonal and Posterior Descending Artery( PDA).
He was good until about 20- years old. He complained hair loss of scalp and eyebrows. The first seizure was occurring at 30 years old with the repetition feature. Moreover, he had hospitalization history for severe pulmonary infection at 31 years old and gallbladder stone. In recent year, he was disabled due to cardiac failure.
physical examination showed a 32-year-old man with alopecia and prominent forehead, protuberant eyes, dental irregularity, deformed and atrophied nails of hands and foots. Height and weight were 140cm and 32kg, respectively. Blood pressure, pulse rate, and oxygen hemostases were 100/70mm Hg, 130 regular/ minutes and oxygen saturation 96 %, respectively. Cardiac examination was recorded the metallic sounds at aorta and mitral foci.He has normal speech with hearing loss.He also has keratoconus and eye frog. No edema and clubbing were found in the extremities. Fig1 and Fig 2 reveal the characteristic of face and ECG of the HGPS.
Electrocardiogram record (ECG)showed sinus tachycardia, normal axis, left bundle branch block, left atrium enlargement, prominent P wave in lead II, secondary ST segment changes to Left Bundle Branch Block (LBBB).
TransThoracic Echocardiography (TTE) and Tissue Doppler Imaging ( TDI) reported left ventricle size (LV) was mildly dilated, no LVH, severe systolic dysfunction. Global Ejection Fraction (GEF) was estimated 20%. A large area of regional wall motion abnormality( RWMA) was detected in both anterior and posterior coronary circulation.RV and RA size was normal. Moderate dysfunction was showed in RV. However, LA size was dilated.Mitral valve was bi-leaflet prosthetic. It was associated with the prosthetic Aortic valve.Tricuspid and Pulmonic valves were normal.
Progeria is a rare genetic disorder characterized by premature aging that eventually leads to death(
In the recent decades, remarkable progress has been made in the understanding of the mechanisms of premature aging. The point mutation in the Lamina A/C (LMNA)gene causes expression of a protein that influences on the normal duration of the aging process. It promotes the early aging. The progerin is a protein as inducing disease. Progerin causes extensive atherosclerosis and cardiac electrophysiological alterations that invariably lead to premature aging and death(
Conclusion: The progeria patients have short survival. Increased the knowledge of the pathophysiology disease, early diagnosis and surgical treatment for cardiovascular complications are effective in the lifespan.
With special thanks to doctor Marzieh masihpoor& Sadigheh Ebrahimi Daneshmand & Mehdi Nikbin, our dear colleges in social security organization.