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Year : 2012  |  Volume : 58  |  Issue : 2  |  Page : 167

Mitral stenosis in tuberous sclerosis: A case of dystrophic calcification

1 Department of Internal Medicine, Division of Cardiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA
2 Division of General Internal Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA

Date of Web Publication14-Jun-2012

Correspondence Address:
S Singla
Department of Internal Medicine, Division of Cardiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0022-3859.97192

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How to cite this article:
Singla S, Bansal M, Agarwal A. Mitral stenosis in tuberous sclerosis: A case of dystrophic calcification. J Postgrad Med 2012;58:167

How to cite this URL:
Singla S, Bansal M, Agarwal A. Mitral stenosis in tuberous sclerosis: A case of dystrophic calcification. J Postgrad Med [serial online] 2012 [cited 2023 Mar 28];58:167. Available from:


Tuberous sclerosis (TS) is a rare multisystem disease inherited in an autosomal dominant pattern and dominated by skin and neurological manifestations.[1] Cardiovascular involvement in this disease is most commonly evident as rhabdomyomas which may rarely manifest as mitral stenosis like physiology.[2]

Our patient is a 36 year old woman diagnosed with TS at the age of three years who presented with complaints of headache and vomiting followed by shortness of breath for a few hours. Her past medical history was significant for mental retardation, medulloblastoma (status post resection) and seizures. Her blood pressure in the hospital was 138/88 mmHg, pulse of 111/min and arterial oxygen saturation 80%. She had coarse crackles in bilateral lung fields, and on cardiac examination there was a soft diastolic rumble at the apex with no opening snap. Her affect and mental status examination were consistent with the stated history and no new focal deficits were present. Computed tomography of head done for evaluation of headache revealed small intraventricular hemorrhage (IVH) in the fourth ventricle, and stable multiple areas of calcification involving the bilateral tentorium, cerebellar vermis, and bilateral basal ganglia. A chest X ray showed bilateral infiltrates consistent with pulmonary edema.

Laboratory workup including blood hemoglobin, white count with differential, platelet count, serum electrolytes (Na and K), renal function and coagulation profile were normal. Serum calcium was 8.3 mg/dL. Troponin I and- Creatinine Kinase -MB fraction (CK MB ) were elevated at 3.8 ng/ml (peak 6.83 ng/ml) and 17 ng/ml, respectively. Electrocardiogram showed sinus rhythm and nonspecific ST T segment changes. A transthoracic echocardiogram showed normal left ventricular wall motion but severe mitral annular calcification (MAC) [Figure 1], with moderate to severe mitral stenosis (MS) with a mean gradient of 13.64 mmHg at heart rate of 101/min and calculated mitral valve area of 1.48 cm2. In the absence of chest pain and no left ventricular wall motion abnormality her troponin elevation was attributed to Type II myocardial infarction secondary to acute intracranial process. The pulmonary edema was felt to be secondary to tachycardia in the presence of MS. She was treated with beta blocker and diuretic with adequate response. The IVH was managed conservatively in consultation with neurology and neurosurgery services and she had uneventful recovery. On a follow up visit to the cardiology clinic, the patient and family were offered surgical correction of the mitral valve but they opted for a conservative approach.
Figure 1: 2D transthoracic echocardiogram showing severe mitral annular calcification in apical two-chamber view (arrow marks severe mitral annular calcification); LA - Left atrium, LV - Left ventricle

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MAC can present as MS like physiology,[3] but in our search of the English medical literature, we did not come across any reported cases of this entity in TS patients. Interestingly though, central nervous system calcification has been reported in association with TS.[4] Not only does this case highlight a very rare but potentially correctable cause of MS, it also provides evidence for one other manifestation of dystrophic calcification in patients with tuberous sclerosis. Moreover as reported by Pressman et al.,[3] the rate of progression of MS in patients with MAC can be variable with increase in gradient across the mitral valve up to 9 mmHg per year. This is particularly relevant in our index case given her young age and supports a close follow up.

 :: References Top

1.Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med 2006;355:1345-56.  Back to cited text no. 1
2.Mair DD, Titus JL, Davis GD, Ritter DG. Cardiac rhabdomyoma simulating mitral atresia. Chest 1977;71:102-5.  Back to cited text no. 2
3.Pressman GS, Agarwal A, Braitman LE, Muddassir SM. Mitral annular calcium causing mitral stenosis. Am J Cardiol 2010;105:389-91.  Back to cited text no. 3
4.Sener RN, Meral A, Farmaka H, Kalender N. CT of gyriform calcification in tuberous sclerosis. PediatrRadiol 1992;22:525-6.  Back to cited text no. 4


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