(II-1C.O) 54-year old male with severe kyphoscoliosis and pulmonary hypertension Sobień B., Kopeć G., Rubiś P., Tomkiewicz Pająk L., Barczyk K., Podolec P.
Experts: Prokop-Staszecka A., Kłosiński P., Fijałkowska A., Bederski K., Podolec P.

A 54-year-old caucasian male was admitted to our clinic with symptoms of cardiac and pulmonary failure. The patient suffered from inherited severe kyphoscoliosis of unknown etiology. At the time of admission he was compensated, in NYHA functional class III. Exercise dyspnea and a drop in effort tolerance were main complaints.

Case presentation
The patient was admitted to our clinic in May 2011due to clinical worsening of cardiopulmonary insufficiency. On admission he was in NYHA functional class III. No peripheral swellings or symptoms of pulmonary edema were present. Physical examination revealed severe malformation of the whole trunk. His height was 154 centimeters and weight 51 kilograms with body-mass index of 21.52 kg/m2. His heart rate was 82 bpm, blood pressure 150/90 mmHg, respiratory rate 15 breaths/min, O2 saturation 95%. Crepitations were present over both lungs. No other pathology was observed. ECG revealed sinus rhythm of 66 bpm with no significant pathology. All biochemistry and blood test results were normal. The patient’s 6-minute walk distance was 330 meters with a significant drop in O2 saturation from 95% to 85%. Fatigue intensity reached 5 points on the Borg scale. Cardiopulmonary exercise test was interrupted after 4 minutes and 24 seconds with maximal load of 2.5 METs due to dyspnea. Maximal O2 consumption was 13.9 ml/kg/min. No pathologies in ECG were recorded. Standard A-P and lateral chest X-ray initially did not show any specific findings because of the degree of thoracic malformation. However, complex and specialist radiological analysis revealed rotated chest, hump circumference from 96 cm on top to 81 cm at the bottom, top of hump moved to the left, impaired flexion of the spine, vertical pelvis position, left scapular hump and left-sided trunk muscle atrophy. Echocardiography was very difficult to perform and its quality was poor due to anatomical conditions. Nevertheless the only pathology found was moderate tricuspid regurgitation with right ventricular systolic pressure of 60 mmHg. The size of heart cavities, thickness of heart muscle, contractility and function of other valves were normal. Computed tomography of the thorax confirmed severe kyphoscoliosis and revealed emphysema as well as slight subpleural fibrosis in the lower lobes. MRI revealed normal size of all heart cavities and hypokinesis of posterior right ventricular wall. Pulmonary function tests were performed. Bodypletysmography revealed the high grade of obturation and increased respiratory resistance. Vital capacity (VC) was 0.99 liters (30.9% of predicted value), forced expiratory volume in one second (FEV1) 0.75 liters (29.3% of predicted value) and forced vital capacity (FVC) 0.91 liters (29.5% of predicted value). FEV1/FVC was 82.1%. The ventilation/perfusion scan revealed areas of nonperfusion corresponding with areas of impaired ventilation, suggesting non-embolic etiology of pulmonary hypertension. To confirm the diagnosis of pulmonary hypertension right-heart catheterization was performed. Pulmonary artery systolic and diastolic pressure was 50/21 mmHg with the mean pressure of 32 mmHg. After nitric oxide inhalation we observed a slight drop in pressure to 45/23 mmHg with the mean pressure of 30 mmHg. We also recorded a significant drop in O2 saturation in the aorta from 96 to 86%.

There are only a few published cases and no guidelines concerning the treatment of patients with thoracic deformations. Nevertheless we can apply some of the ESC/ERS recommendations for pulmonary hypertension due to lung diseases:
Echocardiography is recommended as a screening tool for the assessment of pulmonary hypertension (PH) due to lung diseases (class of recommendation I, evidence level C), right heart catheterization is recommended for a definite diagnosis of PH due to lung diseases (I C), the optimal treatment of the underlying disease including long-term oxigen therapy in
patients with chronic hypoxaemia is recommended in patients with PH due to lung diseases (I C), patients with “out of proportion” PH due to lung diseases should be enrolled in randomized clinical trials targeting PAH-specific drugs (IIa C), the use of PAH-specific drug therapy is not recommended in patients with PH due to lung diseases (III C).

1. Guidelines for the diagnosis and treatment of pulmonary hypertension. European Heart Journal (2009) 30, 2493–2537
2. Schroeder A, Schumacher T, Tromm A.: Kyphoskoliose als Ursache einer pulmonalen Hypertonie. Medizinische Klinik 2003; 98: 100-103
3. Richter P, Gottwik M.: Cor Pulmonale: Interaktion mit pulmonaler Hypertonie, Schlafapnoe unfd Lungenerkrankungen. Internist (Berl) 2002; 43: 19-32

Experts’ comments:
1. Piotr Podolec MD PhD, Anna Fijałkowska MD PhD: Therapy with vasodilatators excluded because no data support their use in PH due to pulmonary diseases. Additionally there was a saturation drop in pulmonary arteries, vasoreactivity test, right heart catheterization;
2. Anna Prokop – Staszecka MD, MD, PhD: Recommended orthopaedic surgeon consultation, professional rehabilitation, appropriate hydration, pharmacotherapy with thiotropium, salmeterol and vitamin D3;
3. Piotr Kłosiński MD: Patient disqualified from surgical treatment due to advanced grade of orthopaedic changes;

Pulmonary hypertension secondary to inherited thorax malformation, COPD. Patient disqualified from surgical treatment. Recommended standard pharmacotherapy of heart failure, intensified pulmonological pharmacotherapy with thiotropium, salmetreol, vitamin D3 and professional rehabilitation.

Bartosz Sobień, Grzegorz Kopeć, Paweł Rubiś, Lidia Tomkiewicz Pająk, Karolina Barczyk, Piotr Podolec

Anna Prokop-Staszecka2, Piotr Kłosiński3, Anna Fijałkowska4, Krzysztof Bederski5, Piotr Podolec1

1 Department of Cardiac and Vascular Diseases, John Paul II Hospital, Kraków, Poland
2 Department of Pulmonology in John Paul II Hospital, Kraków
3 Department of Traumatology, Orthopedics and Neuroorthopedics in Ludwik Rydygier Hospital, Kraków
4 Department of Chest Medicine, Institute of Tuberculosis and Lung Disease, Warszawa
5 Department of Thoracic Surgery, John Paul II Hospital


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