Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

Maass PG, Aydin A, Luft FC, et al.

Nature genetics 2015; (47(6)):647-53 doi:10.1038/ng.3302.

[Hypertensive emergencies and urgencies].

Phan DG, Dreyfuss-Tubiana C, Blacher J

Presse medicale (Paris, France : 1983) 2015; (44(7-8)):737-44.

Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly.

Toka O, Tank J, Schächterle C, et al.

Hypertension (Dallas, Tex. : 1979) 2015; (66(4)):800-8 doi:10.1161/HYPERTENSIONAHA.115.06000.

[Management of arterial hypertension].

Groha P, Schunkert H

Herz 2015; (40(6)):929-40; quiz 941-2 doi:10.1007/s00059-015-4349-5.

Blood pressure lowering for prevention of cardiovascular disease and death: a systematic review and meta-analysis.

Ettehad D, Emdin CA, Kiran A, et al.

Lancet (London, England) 2016; (387(10022)):957-967 doi:10.1016/S0140-6736(15)01225-8.

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.

Jamsheer A, Sowińska-Seidler A, Olech EM, et al.

Journal of human genetics 2016; (61(5)):457-61 doi:10.1038/jhg.2015.172.

Evaluation and treatment of hypertensive crises in children.

Stein DR, Ferguson MA

Integrated blood pressure control 2016; (9()):49-58 doi:10.2147/IBPC.S50640.

The importance of genetic counseling and genetic screening: a case report of a 16-year-old boy with resistant hypertension and severe hypokalemia.

Kuang ZM, Wang Y, Wang JJ, et al.

Journal of the American Society of Hypertension : JASH 2017; (11(3)):136-139 doi:10.1016/j.jash.2017.01.012.

Management of Hypertension in Patients with Chronic Kidney Disease.

Hamrahian SM

Current hypertension reports 2017; (19(5)):43 doi:10.1007/s11906-017-0739-9.

A Prospective, Observational Study to Determine the Prevalence and Clinical Profile of Patients of Hypertensive Crisis in a Tertiary Care Hospital.

Salagre SB, Itolikar SM, Gedam K

The Journal of the Association of Physicians of India 2017; (65(6)):14-21.

Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents.

Flynn JT, Kaelber DC, Baker-Smith CM, et al.

Pediatrics 2017; (140(3)) doi:10.1542/peds.2017-1904.

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Mallett AJ, McCarthy HJ, Ho G, et al.

Kidney international 2017; (92(6)):1493-1506 doi:10.1016/j.kint.2017.06.013.

Monitoring and management of hypertension with obesity in adolescents.

Falkner B

Integrated blood pressure control 2017; (10()):33-39 doi:10.2147/IBPC.S125094.

Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.

Turan S

Journal of clinical research in pediatric endocrinology 2017; (9(Suppl 2)):58-68 doi:10.4274/jcrpe.2017.S006.

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

Pereda A, Garin I, , Perez de Nanclares G

BMC medical genetics 2018; (19(1)):32 doi:10.1186/s12881-018-0530-z.

First-line drugs for hypertension.

Wright JM, Musini VM, Gill R

The Cochrane database of systematic reviews 2018; (4()):CD001841 doi:10.1002/14651858.CD001841.pub3.

Arterial Hypertension.

Jordan J, Kurschat C, Reuter H

Deutsches Arzteblatt international 2018; (115(33-34)):557-568.

PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).

Renkema KY, Westermann JM, Nievelstein RAJ, et al.

Hypertension research : official journal of the Japanese Society of Hypertension 2018; (41(11)):981-988 doi:10.1038/s41440-018-0094-5.

Hypertensive crisis in children and adolescents.

Seeman T, Hamdani G, Mitsnefes M

Pediatric nephrology (Berlin, Germany) 2019; (34(12)):2523-2537 doi:10.1007/s00467-018-4092-2.

Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain.

Karaca A, Reyes M, Shumate LT, et al.

Bone 2019; (123()):153-158 doi:10.1016/j.bone.2019.03.028.

A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia.

Fan P, Zhao YM, Zhang D, et al.

American journal of hypertension 2019; (32(8)):752-758 doi:10.1093/ajh/hpz053.

Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.

Truelove A, Mulay A, Prapa M, et al.

American journal of medical genetics. Part A 2019; (179(7)):1330-1337 doi:10.1002/ajmg.a.61163.

Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation.

Fan P, Zhang D, Yang KQ, et al.

American journal of hypertension 2020; (33(2)):190-197 doi:10.1093/ajh/hpz151.

Liddle's syndrome mechanisms, diagnosis and management.

Enslow BT, Stockand JD, Berman JM

Integrated blood pressure control 2019; (12()):13-22 doi:10.2147/IBPC.S188869.

PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features.

Lee CG, Kang K, Yoon RG, et al.

European journal of medical genetics 2020; (63(4)):103781 doi:10.1016/j.ejmg.2019.103781.

Diagnosis and treatment of hypertensive emergencies and urgencies among Italian emergency and intensive care departments. Results from an Italian survey: Progetto GEAR (Gestione dell'Emergenza e urgenza in ARea critica).

Saladini F, Mancusi C, Bertacchini F, et al.

European journal of internal medicine 2020; (71()):50-56 doi:10.1016/j.ejim.2019.10.004.

Hypocalcemic Recurrent Generalized Seizures with Bilateral Basal Ganglia and Frontal Calcification as the Initial Manifestation of Albright's Hereditary Osteodystrophy in a Child: A Pictorial and Video-graphic Representations.

Nunavath AK, Manorenj S, Jawalker S, Naaz B

Journal of pediatric neurosciences 2019; (14(4)):232-235 doi:10.4103/jpn.JPN_86_19.

Phosphodiesterase 3A and Arterial Hypertension.

Ercu M, Markó L, Schächterle C, et al.

Circulation 2020; (142(2)):133-149 doi:10.1161/CIRCULATIONAHA.119.043061.

Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Bao M, Li P, Li Q, et al.

Journal of medical genetics 2020; (57(8)):571-580 doi:10.1136/jmedgenet-2019-106145.

Hypertension With Brachydactyly Syndrome: A Case Report.

Asim R, Reddy A, Grigorieva Olson O, et al.

Cureus 2020; (12(5)):e8329 doi:10.7759/cureus.8329.

Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.

Li X, Li Z, Chen P, et al.

BMC medical genetics 2020; (21(1)):144 doi:10.1186/s12881-020-01077-z.

The use of single-pill combinations as first-line treatment for hypertension: translating guidelines into clinical practice.

Campana E, Cunha V, Glaveckaite S, et al.

Journal of hypertension 2020; (38(12)):2369-2377 doi:10.1097/HJH.0000000000002598.

Photophobia as the Presenting Symptom of Internal Carotid Artery Dissection.

Pellegrini F, Cirone D, Stafa A

Neuro-ophthalmology (Aeolus Press) 2019; (44(5)):315-318 doi:10.1080/01658107.2019.1580298.

Cardiovascular genetics: the role of genetic testing in diagnosis and management of patients with hypertrophic cardiomyopathy.

Ahluwalia M, Ho CY

Heart (British Cardiac Society) 2021; (107(3)):183-189 doi:10.1136/heartjnl-2020-316798.

Hypertensive Crisis in Pediatric Patients: An Overview.

Raina R, Mahajan Z, Sharma A, et al.

Frontiers in pediatrics 2020; (8()):588911 doi:10.3389/fped.2020.588911.

Pseudohypoparathyroidism Type 1A with Normocalcaemia, due to the Novel C.389A>G Variant of Exon 5 of the Guanine Nucleotide-Binding Protein, α-Stimulating Gene.

Kotanidou EP, Tsinopoulou VR, Serbis A, et al.

Journal of bone metabolism 2021; (28(1)):85-89 doi:10.11005/jbm.2021.28.1.85.

Monogenic forms of low-renin hypertension: clinical and molecular insights.

Khandelwal P, Deinum J

Pediatric nephrology (Berlin, Germany) 2022; (37(7)):1495-1509 doi:10.1007/s00467-021-05246-x.

Posterior Reversible Encephalopathy Syndrome Associated With Coarctation of the Aorta.

Bilitardo IO, Watashi DM, Sene DR, Teixeira GS

Cureus 2021; (13(8)):e17456 doi:10.7759/cureus.17456.

[Hypertensive urgencies and emergencies in pediatric patients].

Skrzypczyk P, Markiewicz M, Tutka A, Pańczyk-Tomaszewska M

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2021; (49(292)):306-310.

CE: Hypertensive Emergencies: A Review.

Mathews EP, Newton F, Sharma K

The American journal of nursing 2021; (121(10)):24-35 doi:10.1097/01.NAJ.0000794104.21262.86.

Strategies for improving the treatment and control of hypertension in Japan.

Sakima A, Matayoshi T, Arima H

Journal of human hypertension 2024; (38(6)):510-515 doi:10.1038/s41371-022-00708-7.

Clinical Characteristics of Hospitalized Pediatric Patients With Hypertensive Crisis-A Retrospective, Single-Center Study in China.

Ba H, Peng H, Xu L, et al.

Frontiers in cardiovascular medicine 2022; (9()):891804 doi:10.3389/fcvm.2022.891804.

Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.

Ercu M, Mücke MB, Pallien T, et al.

Circulation 2022; (146(23)):1758-1778 doi:10.1161/CIRCULATIONAHA.122.060210.

Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage.

Ercu M, Walter S, Klussmann E

Hypertension (Dallas, Tex. : 1979) 2023; (80(6)):1171-1179 doi:10.1161/HYPERTENSIONAHA.122.19433.

Joint statement for assessing and managing high blood pressure in children and adolescents: Chapter 2. How to manage high blood pressure in children and adolescents.

Wühl E, Calpe J, Drożdż D, et al.

Frontiers in pediatrics 2023; (11()):1140617 doi:10.3389/fped.2023.1140617.

Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome.

Granhøj J, Nøhr TK, Hinrichs GR, et al.

Clinical journal of the American Society of Nephrology : CJASN 2024; (19(5)):610-619 doi:10.2215/CJN.0000000000000430.

Reversal of cardiac and renal damage in a teenager with hypertension: A case report.

Du H, Gao S, Dong W, et al.

Journal of clinical hypertension (Greenwich, Conn.) 2024; (26(3)):295-298 doi:10.1111/jch.14769.

A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.

Sun J, Yang N, Xu Z, et al.

Molecular genetics & genomic medicine 2024; (12(2)):e2393 doi:10.1002/mgg3.2393.

The Rationale for Using Fixed-Dose Combination Therapy in the Management of Hypertension in Colombia: A Narrative Review.

Molina de Salazar DI, Coca A, Alcocer L, Piskorz D

American journal of cardiovascular drugs : drugs, devices, and other interventions 2024; (24(2)):197-209 doi:10.1007/s40256-024-00634-8.

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.

Abbas MT, Baba Ali N, Farina JM, et al.

Biomedicines 2024; (12(3)) doi:10.3390/biomedicines12030682.

When and how to use ambulatory blood pressure monitoring and home blood pressure monitoring for managing hypertension.

Lee EM

Clinical hypertension 2024; (30(1)):10 doi:10.1186/s40885-024-00265-w.

The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.

Stafford-Smith B, Sullivan JA, McAllister M, et al.

Journal of genetic counseling 2025; (34(1)):e1894 doi:10.1002/jgc4.1894.

Hypertension and Brachydactyly Syndrome: Genetic Insights and a Novel Presentation.

Shahid A, Shetty NS, Patel N, et al.

JACC. Case reports 2024; (29(11)):102343 doi:10.1016/j.jaccas.2024.102343.

Genetic testing for inherited arrhythmia syndromes and cardiomyopathies: results of the European Heart Rhythm Association survey.

Zeljkovic I, Gauthey A, Manninger M, et al.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2024; (26(9)) doi:10.1093/europace/euae216.

Personal Genetic-Hypertension Odyssey From Phenotypes to Genotypes and Targets.

Luft FC

Hypertension (Dallas, Tex. : 1979) 2024; (81(12)):2395-2406 doi:10.1161/HYPERTENSIONAHA.124.21714.

Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA.

Franco PC, Patrocinio M, Costa-Riquetto AD, et al.

Archives of endocrinology and metabolism 2024; (68()):e230084 doi:10.20945/2359-4292-2023-0084.

Decoding Monogenic Hypertension: A Review of Rare Hypertension Disorders.

Gallegos FR, Delahunty MP, Hu J, et al.

American journal of hypertension 2025; (38(6)):333-351 doi:10.1093/ajh/hpaf005.

Key highlights of the Japanese Society of Hypertension Guidelines for the management of elevated blood pressure and hypertension 2025 (JSH2025).

Ohya Y, Sakima A, Arima H, et al.

Hypertension research : official journal of the Japanese Society of Hypertension 2025; (48(10)):2500-2511 doi:10.1038/s41440-025-02331-8.

A Multispecialty Consensus on Individualized Treatment Strategies for Hypertension Phenotypes and Comorbidities.

Wander GS, Tewary K, Muruganathan A, et al.

The Journal of the Association of Physicians of India 2025; (73(8)):77-84 doi:10.59556/japi.73.1092.

Fetal posterior cerebral artery infarction due to carotid dissection: a case report.

Majoul MS, Ben Lakhal A, Ben Mohamed D, et al.

Journal of medical case reports 2025; (19(1)):608 doi:10.1186/s13256-025-05686-1.

[The Turkish Hypertension Consensus Report 2025].

Özin B, Altun B, Cesur FM, et al.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir 2026; (54(3)):207-226 doi:10.5543/tkda.2026.23791.

Hypertension: Evaluation and Management.

Mishra K

Indian journal of pediatrics 2026; (93(5)):522-528 doi:10.1007/s12098-026-06121-z.

Hypertensive Emergency With End-Organ Damage and Multifocal Intracranial Lesions Mimicking Disseminated Metastatic Disease: A Case Report.

Ozdemir Ozturk B

Cureus 2026; (18(4)):e107515 doi:10.7759/cureus.107515.

[Clinical and genetic characteristics of 6 children with acrodysostosis].

Wang XO, Zhang T, Gong CX, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2026; (64(10)):1185-1189 doi:10.3760/cma.j.cn112140-20260530-00421.