Romano-Ward syndrome

Description

Congenital (autosomal dominant) long QT syndrome (LQTS). Unlike Jervell-Lange-Nielsen syndrome, there is no congenital hearing loss present

  • Multiple genetic mutations identified linked to cardiac potassium and beta-adrenergic channels.
  • Mainstay of treatment is beta-blockers.
  • Risk of sudden cardiac death – if any syncope or sustained ventricular arrhythmias for ablation / ICD implantation.

History of Romano-Ward syndrome

1963-1964: Independently described in 1963 by Cesarino Romano, Italian Paediatrician, and by Irish paediatrician Owen Conor Ward. Both reported an autosomal dominant long-term QT syndrome, later known as Romano-Ward syndrome.

1963 – Romano described an inherited functional syncopal heart disorder with prolonged QT interval in a 3-month-old female patient (“Aritmie cardiache rare dell’eta’pediatrica”). Two brothers of his patient had exhibited the same symptoms and died suddenly one at 44 days and one at 4 months of age.

Romano 1963 QT prolongation in 3 month old
QT interval in seconds in 3 month old with congenital cardiac arrhythmia. Romano 1963

1963 – Ward reported to the Royal Academy of Medicine in Ireland the clinical details of a family in whom prolongation of the QT interval in the ECG was associated in two cases with attacks of loss of consciousness due to ventricular fibrillation.

1964 – Ward published in the Journal of the Irish Medical Association. He detailed the case of a 6 year old girl suffering from recurrent syncope whenever she was distressed or exerted herself, from the age of 16 months. Her GP sent her for a cardiology review; she was admitted to hospital and her symptoms recreated by running her around the ward where she collapsed, pulseless and unconscious.

Her ECG changes included marked QT prolongation at baseline and ‘bizarre’ ventricular extrasystoles degenerating into ventricular fibrillation of an ‘abnormal configuration’ [we now know this to be Torsades de pointes, first defined by François Dessertenne in 1966]. Shortening the QT with digoxin, beta blockers and carbamazepine did not prevent her attacks. Regrettably, at the age of 14, she had a further single attack which proved fatal.

Her younger brother suffered similar attacks from the age of 15 months, associated with emotional distress. He was treated with thioridizine (Melleril) in association with a beta-blocker. He died in an attack a few months before the publication of the first paper identifying QT prolongation as an adverse effect of thioridizine.

The children’s mother, who was completely symptom free, had marked prolongation of her QT interval. Their father’s ECG was normal. These findings were taken to indicate that the condition had been inherited as a dominant trait.

Autopsy examination revealed no pathological change in the heart muscle or in the conducting system, and no vascular structural abnormality.

1964 – An editorial review of Ward’s article appeared in the July 4 edition of the Lancet as ‘Congenital cardiac arrhythmia‘ noting this be the ‘first time this condition had been described’ and recommending that an ECG be carried out on all fainting children. 

This prompted a series of letter responses from Romano in Italy (2), Barlow in South Africa (5), and Gamstorp in Sweden (1) taking the global case tally to 10.

1964Barlow, Bosman and CraigCochrane published a family tree of three generations in
South Africa and five cases in which prolongation of the QT interval was associated with attacks of loss of consciousness, presumably duc to a cardiac arrhythmia.

1965 – Romano’s letter to the Lancet, March 20 1965 in response to JervellLange-Nielsen and Ward’s findings:

We pointed to the resemblance between our case and the syndrome of deafmutism, syncopal attacks, lengthening of the QT interval, and sudden death, but, as in Ward’s case, there was no evidence of deafmutism in our patient or in her family. The syndrome reported by us and by Ward may be a distinct entity.

[Romano C, 1963] [Ward OC, 1964]

1970Karhunen et al published the eleventh case and referred to the condition as the Romano-Ward Syndrome, a term which became widely adopted thereafter 

Kringelbach and Wennevold

1979International Long-QT Syndrome Registry (ILQTSR) was initiated to collect data on any patient with LQTS.

2001 – Advances in research with paper by Schwrartz et al concluded that life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner. These data allow new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene-specific approaches.

2005 – 25th Anniversary International LQTS Registry collating clinical discoveries from the past 25 years and setting ongoing aims for future research in this challenging field: ‘Our quest for uncovering the secrets of LQTS continues


Associated Persons

Alternative names
  • Ward-Romano Syndrome; Ward’s syndrome
  • Congenital cardiac arrhythmia
  • Congenital Long QT syndrome without deafness

References

Historical articles

Review articles


[cite]


eponymictionary

the names behind the name

Associate Professor Curtin Medical School, Curtin University. Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM Sir Charles Gairdner Hospital.  Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |

Leave a Reply

This site uses Akismet to reduce spam. Learn how your comment data is processed.