Cardiac interventions in patients with achondroplasia: a systematic review

Abstract

Patients with achondroplasia and other causes of dwarfism suffer from increased rates of cardiovascular disease relative to the remainder of the population. Few studies have examined these patients when undergoing cardiac surgery or percutaneous intervention. This systematic review examines the literature to determine outcomes following cardiac intervention in this unique population. An electronic search was performed in the English literature to identify all reports of achondroplasia, dwarfism, and cardiac intervention. Of the 5,274 articles identified, 14 articles with 14 cases met inclusion criteria. Patientlevel data was extracted and analyzed. Median patient age was 55.5 [interquartile ranges (IQR), 43.8, 59.8] years, median height 102.0 [98.8, 112.5] cm, median BMI 32.1 [27.0, 45.9], and 57.1% (8/14) were male.Of these 14 patients, nine had the following documented skeletal abnormalities: 66.7% (6/9) had scoliosis, 66.7% (6/9) had kyphosis, 11.1% (1/9) had lordosis, 11.1% (1/9) pectus carinatum and 11.1% (1/9) spinal stenosis. Coronary artery disease was present in 53.8% (7/13), and 30.8% (4/13) patients previously suffered a myocardial infarction. Of the eight patients who underwent cardiac surgery, 37.5% (3/8) underwent multivessel coronary artery bypass grafting, 37.5% (3/8) underwent aortic valve replacement, 25.0% (2/8) underwent type A aortic dissection repair, and the remaining 12.5% (1/8) underwent pulmonary thromboendarterectomy. Six patients underwent percutaneous intervention. Median cardiopulmonary bypass time was 136.5 [110.0, 178.8] minutes. Median arterial cannula size was 20.0 [20.0, 24.0] Fr. Bicaval cannulation was performed in all cases describing cannulation strategy (5/5). Median superior vena cava cannula size was 28.0 [28.0, 28.0] Fr, and inferior vena cava cannula size was 28.0 [28.0, 28.0] Fr. Nomortality was reported with a median follow up time of 6.0 [6.0, 10.5] months. In conclusion, Common cardiac procedures can be performed with reasonable safety in this patient population. Operative adjustments may need to be made with respect to equipment to accommodate patient-specific needs.

Siblings With Familial Dwarfism Presenting With Acute Myocardial Infarction at Adolescence

“…From earlier reports, dwarfs are known to have an increased risk for cardiovascular disease. This was hypothesized to be due to a narrower cross-sectional diameter of the vessels ( 8 ). Our 2 patients not only had extremely short stature but also possessed powerful risk factors, such as hyperlipidemia and thrombocytosis, as previously described.…”

Rare case of severe non-calcific aortic stenosis in an achondroplastic dwarf: surgical consideration

“…Although achondroplasia itself is not a contraindication for cardiac surgery [ 1 ], only 3 cases of aortic valve replacement for AS in patients with achondroplasia have been reported to date (see Supplementary Material, Table S1 ). Previous reports and our case illustrate that an extremely small aortic root complicates the treatment of AS with achondroplasia ( Supplementary Material, Table S1 ).…”

“…Achondroplasia, the most common form of human dwarfism, involves an increased risk of cardiovascular diseases [ 1 ]. Here, we report a rare case of achondroplasia with severe non-calcific aortic stenosis (AS) treated using aortic valve replacement combined with aortic root enlargement.…”

Mitral and tricuspid repair in an adult achondroplastic patient

“…1 Associated cardiac pathology is not uncommon in the setting achondroplasia, however, data concerning cardiac interventions in these patients are scarce. To the best of our knowledge, there have been to date 16 reports of cardiac interventions in achondroplastic patients, [2][3][4] and none for the treatment of mitral or tricuspid pathology. Herein, we add to the literature the first case of combined mitral and tricuspid valve repair in an adult achondroplastic patient.…”